Disease on EC 1.14.14.16 - steroid 21-monooxygenase
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11beta-hydroxysteroid dehydrogenase deficiency
A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia.
11beta-hydroxysteroid dehydrogenase deficiency
Epidemiologic study of adrenal gland disorders in Japan.
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
3 alpha-Androstanediol glucuronide in premature and normal pubarche.
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
Adrenal androgen hyperresponsiveness to adrenocorticotropin in women with acne and/or hirsutism: adrenal enzyme defects and exaggerated adrenarche.
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia in pregnancy.
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment.
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women.
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
[3 beta-hydroxysteroid dehydrogenase deficiency and 21-hydroxylase deficiency in hirsutism]
3beta-hydroxy-delta5-steroid dehydrogenase deficiency
Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test.
3beta-hydroxy-delta5-steroid dehydrogenase deficiency
Severe Salt-Losing 3?-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
3beta-hydroxy-delta5-steroid dehydrogenase deficiency
Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome.
3beta-hydroxysteroid 3-dehydrogenase deficiency
Definitive diagnosis of enzymatic deficiencies of steroidogenesis in at-risk newborns and infants by urinary marker analysis using GC/MS-SIM.
3beta-hydroxysteroid 3-dehydrogenase deficiency
Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.
46, XX Disorders of Sex Development
A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7.
46, XX Disorders of Sex Development
Female pseudohermaphroditism and inefficient peak bone mass in an untreated subject affected by 21-hydroxylase congenital adrenal hyperplasia.
46, XX Disorders of Sex Development
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome.
46, XX Disorders of Sex Development
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.
46, XX Disorders of Sex Development
Prenatal diagnosis/treatment in families at risk for infants with steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
46, XX Disorders of Sex Development
[A case of female pseudohermaphroditism caused by adrenal deficiency in 21-hydroxylase and 11-hydroxylase.]
46, XX Disorders of Sex Development
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
46, XX Disorders of Sex Development
[Female pseudohermaphroditism in congenital adrenogenital syndrome as an incidental intraoperative finding in a 68 year old patient]
46, XX Disorders of Sex Development
[Surgical correction of genital virilization in girls with congenital adrenal hyperplasia]
Abortion, Spontaneous
Major histocompatibility complex located complement C4 and steroid 21-hydroxylase gene rearrangements in couples with recurrent spontaneous abortions.
Abortion, Spontaneous
Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency.
Acanthosis Nigricans
Acanthosis nigricans in association with congenital adrenal hyperplasia: resolution after treatment. Case report.
Acne Vulgaris
Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne.
Acne Vulgaris
Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.
Acne Vulgaris
Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia.
Acne Vulgaris
Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia.
Acne Vulgaris
Late onset adrenal hyperplasia in a group of Irish females who presented with hirsutism, irregular menses and/or cystic acne.
Acne Vulgaris
Prevalence of non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with acne: a hospital-based cross-sectional study.
Acne Vulgaris
Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.
Acne Vulgaris
The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China.
Acne Vulgaris
The frequency of 21-alpha hydroxylase enzyme deficiency and related sex hormones in Iraqi healthy male subjects versus patients with acne vulgaris.
Acne Vulgaris
The incidence of non-classical 21-hydroxylase deficiency in hirsute adolescent girls.
Acne Vulgaris
The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both.
Addison Disease
21-hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Belgian Diabetes Registry.
Addison Disease
21-hydroxylase autoantibody-negative Addison's disease in a 5-year-old boy with adrenal crisis and type 1 diabetes mellitus.
Addison Disease
21-Hydroxylase epitopes are targeted by CD8 T cells in autoimmune Addison's disease.
Addison Disease
A conformation-dependent epitope in Addison's disease and other endocrinological autoimmune diseases maps to a carboxyl-terminal functional domain of human steroid 21-hydroxylase.
Addison Disease
A study of the epitopes on steroid 21-hydroxylase recognized by autoantibodies in patients with or without Addison's disease.
Addison Disease
Addison Disease: The First Presentation of the Condition May be at Autopsy.
Addison Disease
Adrenal autoantibodies and organ-specific autoimmunity in patients with Addison's disease.
Addison Disease
Adrenal-cortex autoantibodies and steroid-producing cells autoantibodies in patients with Addison's disease: comparison of immunofluorescence and immunoprecipitation assays.
Addison Disease
An unusual association: pheochromocytoma on an atrophied adrenal gland due to addison's disease.
Addison Disease
Analysis of the interaction between human steroid 21-hydroxylase and various monoclonal antibodies using comparative structural modelling.
Addison Disease
Autoantibodies against 21-hydroxylase and side-chain cleavage enzyme in autoimmune Addison's disease are mainly immunoglobulin G1.
Addison Disease
Autoantibodies against CYP2D6 and other drug-metabolizing enzymes in autoimmune hepatitis type 2.
Addison Disease
Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17alpha-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III.
Addison Disease
Autoantibodies to adrenal cytochrome P450 antigens in isolated Addison's disease and autoimmune polyendocrine syndrome type II.
Addison Disease
Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease.
Addison Disease
Autoantibody "subspecificity" in type 1 diabetes: risk for organ-specific autoimmunity clusters in distinct groups.
Addison Disease
Autoantibody epitope mapping of the 21-hydroxylase antigen in autoimmune Addison's disease.
Addison Disease
Autoimmune Addison's disease--evidence for a role of steroid 21-hydroxylase autoantibodies in adrenal insufficiency.
Addison Disease
Autoimmune Addison's disease. Analysis of autoantibody binding sites on human steroid 21-hydroxylase.
Addison Disease
Characterization of adrenal autoantigens recognized by sera from patients with autoimmune polyglandular syndrome (APS) type I.
Addison Disease
Concomitant presentation of IgG4-negative idiopathic retroperitoneal fibrosis and Addison's disease.
Addison Disease
CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles.
Addison Disease
Determination of 21-hydroxylase autoantibodies: inter-laboratory concordance in the Euradrenal International Serum Exchange Program.
Addison Disease
Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry.
Addison Disease
DRB1*04 and DQ alleles: expression of 21-hydroxylase autoantibodies and risk of progression to Addison's disease.
Addison Disease
Endocrine and immunogenetic testing in individuals with type 1 diabetes and 21-hydroxylase autoantibodies: Addison's disease in a high-risk population.
Addison Disease
Genetic determinants of 21-hydroxylase autoantibodies amongst patients of the type 1 diabetes genetics consortium.
Addison Disease
High diagnostic accuracy for idiopathic Addison's disease with a sensitive radiobinding assay for autoantibodies against recombinant human 21-hydroxylase.
Addison Disease
HLA similarities indicate shared genetic risk in 21-hydroxylase autoantibody positive South African and United States Addison's disease.
Addison Disease
Homozygosity of the Polymorphism MICA5.1 Identifies Extreme Risk of Progression to Overt Adrenal Insufficiency among 21-Hydroxylase Antibody-Positive Patients with Type 1 Diabetes.
Addison Disease
I. Adrenal cortex and steroid 21-hydroxylase autoantibodies in adult patients with organ-specific autoimmune diseases: markers of low progression to clinical Addison's disease.
Addison Disease
Identification of the main gonadal autoantigens in patients with adrenal insufficiency and associated ovarian failure.
Addison Disease
II. Adrenal cortex and steroid 21-hydroxylase autoantibodies in children with organ-specific autoimmune diseases: markers of high progression to clinical Addison's disease.
Addison Disease
Immunological cross-reactivity to multiple autoantigens in patients with liver kidney microsomal type 1 autoimmune hepatitis.
Addison Disease
Immunoprecipitation assay for autoantibodies to steroid 21-hydroxylase in autoimmune adrenal diseases.
Addison Disease
Interleukin-2 and subunit alpha of its soluble receptor in autoimmune Addison's disease - An association study and expression analysis.
Addison Disease
Levels of adrenocortical autoantibodies correlate with the degree of adrenal dysfunction in subjects with preclinical Addison's disease.
Addison Disease
Low dose (1 microg) ACTH test in the evaluation of adrenal dysfunction in pre-clinical Addison's disease.
Addison Disease
Major histocompatibility complex class II and III in Addison's disease. MHC alleles do not predict autoantibody specificity and 21-hydroxylase gene polymorphism has no independent role in disease susceptibility.
Addison Disease
Mapping of B cell epitopes on steroid 17 alpha-hydroxylase, an autoantigen in autoimmune polyglandular syndrome type I.
Addison Disease
Measuring adrenal autoantibody response: Interlaboratory concordance in the first international serum exchange for the determination of 21-hydroxylase autoantibodies.
Addison Disease
Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease.
Addison Disease
NONCLASSICAL 21-HYDROXYLASE DEFICIENCY PRESENTED AS ADDISON'S DISEASE AND BILATERAL ADRENAL INCIDENTALOMAS.
Addison Disease
Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype.
Addison Disease
Perioperative care of congenital adrenal hyperplasia - a disparity of physician practices in Canada.
Addison Disease
Predicting the Onset of Addison's Disease: ACTH, Renin, Cortisol, and 21-hydroxylase Autoantibodies.
Addison Disease
Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I.
Addison Disease
Prevalence of adrenal antibodies in Addison's disease among north Indian Caucasians.
Addison Disease
Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency.
Addison Disease
Screening for X-linked adrenoleukodystrophy among adult males with Addison's disease.
Addison Disease
Secondary amenorrhoea associated with high serum 17-hydroxyprogesterone levels revealing a heterozygous CYP21A2 mutation in a woman with Addison disease.
Addison Disease
Steroid 21-hydroxylase autoantibodies in insulin-dependent diabetes mellitus. Childhood Diabetes in Finland (DiMe) Study Group.
Addison Disease
Steroid 21-hydroxylase autoantibodies: measurements with a new immunoprecipitation assay.
Addison Disease
Steroid 21-hydroxylase is a major autoantigen involved in adult onset autoimmune Addison's disease.
Addison Disease
T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency.
Addison Disease
Target proteins in human autoimmunity: cytochromes P450 and UDP- glucuronosyltransferases.
Addison Disease
THE NATURAL HISTORY OF AUTOIMMUNE ADDISON'S DISEASE FROM THE DETECTION OF AUTOANTIBODIES TO DEVELOPMENT OF THE DISEASE: A LONG FOLLOW-UP STUDY ON 143 PATIENTS.
Addison Disease
The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: The major autoantigen in autoimmune Addison's disease.
Addison Disease
The substrate-binding domain of 21-hydroxylase, the main autoantigen in autoimmune Addison's disease, is an immunodominant T cell epitope.
Addison Disease
Time course of 21-hydroxylase antibodies and long-term remission of subclinical autoimmune adrenalitis after corticosteroid therapy: case report.
Addison Disease
Type II polyglandular autoimmune syndrome: a case of Addison's disease precipitated by use of levothyroxine.
Addison Disease
[21-hydroxylase autoantibodies as a marker of adrenal involvement in patients with autoimmune endocrinopathies]
Adenocarcinoma
Female pseudohermaphroditism due to congenital adrenal hyperplasia complicated by adenocarcinoma of the prostate and clear cell carcinoma of the endometrium.
Adenoma
A case of Cushing's syndrome due to bilateral cortisol-secreting adenomas with unilateral DHEAS oversecretion.
Adenoma
A case of silent 21-hydroxylase deficiency with persistent adrenal insufficiency after removal of an adrenal incidentaloma.
Adenoma
ACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma.
Adenoma
ACTH-independent macronodular adrenocortical hyperplasia: immunohistochemical and in situ hybridization studies of steroidogenic enzymes.
Adenoma
Adrenal tumors associated with inadequately treated congenital adrenal hyperplasia.
Adenoma
Adrenocortical adenoma associated with inadequately treated congenital adrenal hyperplasia.
Adenoma
Adrenocortical tumor in a patient with untreated congenital adrenocortical hyperplasia owing to 21-hydroxylase deficiency: characterization of steroidogenic lesions.
Adenoma
Clinical characteristics of primary hyperaldosteronism due to adrenal microadenoma.
Adenoma
Decreased levels of steroid 21-hydroxylase [P450(c21)] and its mRNA in an adrenocortical adenoma associated with 21-hydroxylase deficiency.
Adenoma
Disordered expression of adrenal steroidogenic P450 mRNAs in incidentally discovered nonfunctioning adrenal adenoma.
Adenoma
Expression of steroidogenic enzyme messenger ribonucleic acids and corticosteroid production in aldosterone-producing and "nonfunctioning" adrenal adenomas.
Adenoma
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels.
Adenoma
Increased plasma 17-hydroxyprogesterone response to ACTH in patients with nonhyperfunctioning adrenal adenomas is not due to a deficiency in 21-hydroxylase activity.
Adenoma
Ovarian suppression with triptorelin and adrenal stimulation with adrenocorticotropin in functional hyperadrogenism: role of adrenal and ovarian cytochrome P450c17 alpha.
Adenoma
Steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fraction of functioning adrenocortical tumors.
Adenoma
Steroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors.
Adenoma
Testosterone-secreting virilizing adrenal adenoma with human chorionic gonadotrophin receptors and 21-hydroxylase deficiency.
Adenoma
Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency.
Adenoma
[A case of virilizing adrenal cortical adenoma whose steroid profile evokes a partial 21-hydroxylase deficiency (author's transl)]
Adenoma
[Image diagnosis of adrenal disorders. III. "Nonfunctioning" adrenal adenoma, weak mineralocorticoids producing adrenal carcinoma, congenital adrenogenital syndrome due to 21-hydroxylase deficiency--simple virilizing form, and pheochromocytoma]
Adrenal Cortex Neoplasms
[A simple method for the estimation of a urinary steroids profile using glass capillary gas chromatography with a solventless injection system]
Adrenal Gland Neoplasms
The modification and expression of 21-hydroxylase gene in normal human adrenal gland and adrenal cancer.
Adrenal Hyperplasia, Congenital
"Acquired" adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorders as congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population.
Adrenal Hyperplasia, Congenital
'Exaggerated adrenarche' in children presenting with premature adrenarche.
Adrenal Hyperplasia, Congenital
17-Hydroxyprogesterone response to ACTH in bilateral and monolateral adrenal incidentalomas.
Adrenal Hyperplasia, Congenital
17OH-progesterone response to acute dexamethasone administration in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
2+0 CYP21A2 deletion carrier - a limitation of the genetic testing and counseling: A case report.
Adrenal Hyperplasia, Congenital
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
21-hydroxylase deficiency congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.
Adrenal Hyperplasia, Congenital
21-Hydroxylase deficiency: from molecular genetics to clinical presentation.
Adrenal Hyperplasia, Congenital
21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification.
Adrenal Hyperplasia, Congenital
21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
3 alpha-androstanediol glucuronide in virilizing congenital adrenal hyperplasia: a useful serum metabolic marker of integrated adrenal androgen secretion.
Adrenal Hyperplasia, Congenital
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.
Adrenal Hyperplasia, Congenital
46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: association or coincidence?
Adrenal Hyperplasia, Congenital
A 31-year-old woman with infertility and polycystic ovaries diagnosed with non-classic congenital adrenal hyperplasia due to a novel CYP21 mutation.
Adrenal Hyperplasia, Congenital
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations.
Adrenal Hyperplasia, Congenital
A 42-year-old man presented with adrenal incidentaloma due to non-classic congenital adrenal hyperplasia with a novel CYP21A2 mutation.
Adrenal Hyperplasia, Congenital
A Case of 11beta-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS.
Adrenal Hyperplasia, Congenital
A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
A case of congenital adrenal hyperplasia with concomitant abnormalities of steroid 21- and 11 beta-hydroxylase activities.
Adrenal Hyperplasia, Congenital
A case of recurrent labial adhesions in a 15-month-old child with asymptomatic non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature.
Adrenal Hyperplasia, Congenital
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency.
Adrenal Hyperplasia, Congenital
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction.
Adrenal Hyperplasia, Congenital
A Comparative Study of Sexual Experiences: Women with Diabetes and Women with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
A Cross-Section Study of the Ontogeny of Gender Roles in Women with DSD.
Adrenal Hyperplasia, Congenital
A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia.
Adrenal Hyperplasia, Congenital
A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy.
Adrenal Hyperplasia, Congenital
A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes.
Adrenal Hyperplasia, Congenital
A Liquid Chromatography/Tandem Mass Spectometry Profile of 16 Serum Steroids, Including 21-Deoxycortisol and 21-Deoxycorticosterone, for Management of Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
A neonatal mass-screening for congenital adrenal hyperplasia in Japan.
Adrenal Hyperplasia, Congenital
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
Adrenal Hyperplasia, Congenital
A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
A novel 13-bp deletion in exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods.
Adrenal Hyperplasia, Congenital
A novel 9?bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
A Novel CYP21A2 Gene Mutation in Classic Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online.
Adrenal Hyperplasia, Congenital
A novel frameshift mutation in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family.
Adrenal Hyperplasia, Congenital
A novel function of CYP21A2 in regulating cell migration and invasion via Wnt signaling.
Adrenal Hyperplasia, Congenital
A novel homozygous CYP19A1 gene mutation: Aromatase deficiency mimicking congenital adrenal hyperplasia in an infant without obvious maternal virilisation.
Adrenal Hyperplasia, Congenital
A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
A paradox: elevated 21-hydroxypregnenolone production in newborns with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region.
Adrenal Hyperplasia, Congenital
A pilot study on CYP21 gene deletions among a cohort of Sri Lankan children with congenital adrenal hyperplasia
Adrenal Hyperplasia, Congenital
A posterior-based omega-shaped flap vaginoplasty in girls with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
A practical approach to the diagnosis of polycystic ovary syndrome.
Adrenal Hyperplasia, Congenital
A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.
Adrenal Hyperplasia, Congenital
A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
Adrenal Hyperplasia, Congenital
A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
Adrenal Hyperplasia, Congenital
A rare duplicated 21-hydroxylase haplotype and a de novo mutation: a family analysis.
Adrenal Hyperplasia, Congenital
A rare TaqI polymorphism in a human complement C4 gene is caused by an additional restriction site in the first intron.
Adrenal Hyperplasia, Congenital
A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
A Retrospective Analysis of the Growth Pattern in Patients with Salt-wasting 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
A SEQUENCE VARIATION IN 3'UTR OF CYP21A2 GENE CORRELATES WITH A MILD FORM OF CONGENITAL ADRENAL HYPERPLASIA.
Adrenal Hyperplasia, Congenital
A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
A test for heterozygocity of 21-hydroxylase deficiency: preliminary report.
Adrenal Hyperplasia, Congenital
A Three-dimensional Structure of Steroid 21-Hydroxylase (Cytochrome P450 21A2) with Two Substrates Reveals Locations of Disease-associated Variants.
Adrenal Hyperplasia, Congenital
A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
Adrenal Hyperplasia, Congenital
A woman with salt-wasting congenital adrenal hyperplasia presenting with a mucinous ovarian cystadenoma during pregnancy.
Adrenal Hyperplasia, Congenital
Abnormalities of various serum enzyme activities in patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Acanthosis nigricans in association with congenital adrenal hyperplasia: resolution after treatment. Case report.
Adrenal Hyperplasia, Congenital
Accelerated dental development as a presenting symptom of 21-hydroxylase deficient nonclassic congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
ACTH receptor blockade: a novel approach to treat congenital adrenal hyperplasia, or Cushing's disease.
Adrenal Hyperplasia, Congenital
Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight.
Adrenal Hyperplasia, Congenital
Adiponectin levels are high in children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency have vascular dysfunction.
Adrenal Hyperplasia, Congenital
Adrenal 21-hydroxylase deficiency in childhood: 25 years' experience.
Adrenal Hyperplasia, Congenital
Adrenal androgen hyperresponsiveness to adrenocorticotropin in women with acne and/or hirsutism: adrenal enzyme defects and exaggerated adrenarche.
Adrenal Hyperplasia, Congenital
Adrenal incidentalomas: adrenal hemangioma in a patient with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Adrenal myelolipoma associated with endocrine dysfunction: review of the literature.
Adrenal Hyperplasia, Congenital
Adrenal Myelolipomas in Patients with Congenital Adrenal Hyperplasia: Review of the Literature and a Case Report.
Adrenal Hyperplasia, Congenital
Adrenal nodules in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: regression after adequate hormonal control.
Adrenal Hyperplasia, Congenital
Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.
Adrenal Hyperplasia, Congenital
Adrenal steroidogenic defects in children with precocious pubarche.
Adrenal Hyperplasia, Congenital
Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Adrenal tumors associated with inadequately treated congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Adrenarche and puberty in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Adrenarche does not occur in treated patients with congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Adrenocortical tumor in a patient with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Adrenocorticotrophin stimulation and HLA polymorphisms suggest a high frequency of heterozygosity for steroid 21-hydroxylase deficiency in patients with Turner's syndrome and their families.
Adrenal Hyperplasia, Congenital
Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Adrenomedullary Function in Patients with Nonclassic Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease.
Adrenal Hyperplasia, Congenital
Adult women with 21-hydroxylase deficient congenital adrenal hyperplasia, surgical and psychological aspects.
Adrenal Hyperplasia, Congenital
Age of appearance of circadian rhythm in blood 17-hydroxyprogesterone in 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Age-related changes in adrenal size during the first year of life in normal newborns, infants and patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: comparison of ultrasound and hormonal parameters.
Adrenal Hyperplasia, Congenital
Age-specific changes in sex steroid biosynthesis and sex development.
Adrenal Hyperplasia, Congenital
Aldosterone production despite absence or defectiveness of the CYP21 genes in two patients with salt-losing congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase.
Adrenal Hyperplasia, Congenital
Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Allele-dropout using PCR-based diagnosis for the splicing mutation in intron-2 of the CYP21B-gene: successful amplification with a Taq/Pwo-polymerase mixture.
Adrenal Hyperplasia, Congenital
Alterations in Lipid and Carbohydrate Metabolism in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Altered 24-hour blood pressure profiles in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.
Adrenal Hyperplasia, Congenital
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.
Adrenal Hyperplasia, Congenital
Amniotic 17-alpha hydroxyprogesterone and HLA typing for the prenatal diagnosis of 21-alpha hydroxylase deficiency--congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Amniotic fluid levels of 17 alpha-hydroxyprogesterone during human pregnancy: pre-natal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
An acth-secreting pituitary tumour arising in a patient with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
Adrenal Hyperplasia, Congenital
An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report.
Adrenal Hyperplasia, Congenital
An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.
Adrenal Hyperplasia, Congenital
An update to 21-hydroxylase deficient congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ionization and electrospray ionization using multiple reaction monitoring.
Adrenal Hyperplasia, Congenital
Analysis of 52 C19 and C21 steroids by UPC2-MS/MS: Characterising the C11-oxy steroid metabolome in serum.
Adrenal Hyperplasia, Congenital
Analysis of Four Common Salt-Wasting Mutations in CYP21 (Steroid 21-Hydroxylase) by Cleavase Fragment Length Polymorphism Analysis and Characterization of a Frequent Polymorphism in Intron 6.
Adrenal Hyperplasia, Congenital
Analysis of mutations causing steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Analysis of phenotypes and genotypes in 84 patients with 21-Hydroxylase deficiency in southern China.
Adrenal Hyperplasia, Congenital
Analysis of steroid 21-hydroxylase gene mutations in the Spanish population.
Adrenal Hyperplasia, Congenital
Analysis of the CYP21A1P pseudogene: Indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes.
Adrenal Hyperplasia, Congenital
Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module.
Adrenal Hyperplasia, Congenital
Androgen excess is due to elevated 11-oxygenated androgens in treated children with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Androgen synthesis in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Androglottia in a young female adolescent with congenital adrenal hyperplasia and 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Angiotensin and adrenal steroidogenesis: study of 21-hydroxylase-deficient congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Antenatal treatment for classic 21-hydroxylase forms of congenital adrenal hyperplasia and the issues.
Adrenal Hyperplasia, Congenital
Application of polymerase chain reaction with oligoligation assay to determine genotype in individuals presenting with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Application of Principal Component Analysis to Newborn Screening for Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Approach to the patient: the adult with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Aromatase Inhibitor Increases the Height of Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Ascertainment of 21-hydroxylase deficiency in individuals with HLA-B14 haplotype.
Adrenal Hyperplasia, Congenital
Assessing the risk of having a child with classic 21-hydroxylase deficiency: a new paradigm.
Adrenal Hyperplasia, Congenital
Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
Adrenal Hyperplasia, Congenital
Association of HLA alleles and haplotypes with CYP21A2 gene p. V282L mutation in the Croatian population.
Adrenal Hyperplasia, Congenital
Association of p.His38Leu, a rare CYP21A2 mutation, with the classical simple virilizing phenotype of 21-hydroxylase deficiency in a 6-year-old boy.
Adrenal Hyperplasia, Congenital
Attenuated forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Audit of care of patients with congenital adrenal hyperplasia due to 21-Hydroxylase deficiency in a referral hospital in South India.
Adrenal Hyperplasia, Congenital
Augmented 17 alpha-hydroxyprogesterone response to ACTH stimulation as evidence of decreased 21-hydroxylase activity in patients with incidentally discovered adrenal tumours ('incidentalomas').
Adrenal Hyperplasia, Congenital
Automated, fast and sensitive quantification of 17 alpha-hydroxy-progesterone, androstenedione and testosterone by tandem mass spectrometry with on-line extraction.
Adrenal Hyperplasia, Congenital
Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.
Adrenal Hyperplasia, Congenital
Auxological and biochemical parameters in assessing treatment of infants and toddlers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Behavioral effects of prenatal versus postnatal androgen excess in children with 21-hydroxylase-deficient congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Bilateral adrenalectomy for severe hypertension in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency: Long term follow-up.
Adrenal Hyperplasia, Congenital
Bilateral laparoscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Bilateral testicular tumors in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Biochemical and genetic diagnosis of 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Bioelectrical Impedance Phase Angle and Its Determinants in Patients with Classic Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Birth Sizes of Neonates with Congenital Adrenal Hyperplasia Secondary to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Blood pressure in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Blood Pressure in the First Year of Life in Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: A Pilot Study.
Adrenal Hyperplasia, Congenital
Blood pressure, fludrocortisone dose and plasma renin activity in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency followed from birth to 4 years of age.
Adrenal Hyperplasia, Congenital
Blunted adrenarche in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Bone density in young patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Bone growth oscillation: longitudinal metabolic process of bone growth in congenital adrenal hyperplasia and nonendocrine short stature.
Adrenal Hyperplasia, Congenital
Bone Mass in Young Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Bone mineral density in girls with classical congenital adrenal hyperplasia due to CYP21 deficiency.
Adrenal Hyperplasia, Congenital
Bone mineral status in Egyptian children with classic congenital adrenal hyperplasia. A single-center study from Upper Egypt.
Adrenal Hyperplasia, Congenital
Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene.
Adrenal Hyperplasia, Congenital
Brain development and cognitive, psychosocial, and psychiatric functioning in classical 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Brain Differences in the Prefrontal Cortex, Amygdala, and Hippocampus in Youth with Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Cardiovascular disease risk in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Cardiovascular dysfunction risk in young adults with congenital adrenal hyperplasia caused by 21-hydroxylase enzyme deficiency.
Adrenal Hyperplasia, Congenital
Cardiovascular risk factors and increased carotid intima-media thickness in young patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Carotid Intima-Media Thickness Is Associated with Increased Androgens in Adolescents and Young Adults with Classical Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese.
Adrenal Hyperplasia, Congenital
Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.
Adrenal Hyperplasia, Congenital
Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne.
Adrenal Hyperplasia, Congenital
Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test.
Adrenal Hyperplasia, Congenital
Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.
Adrenal Hyperplasia, Congenital
Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Changes of several adrenal delta 4-steroids measured by HPLC-UV spectrometry in neonatal patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.
Adrenal Hyperplasia, Congenital
Characterization of a novel DNA polymorphism in the human CYP21 gene and application for DNA diagnosis of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles.
Adrenal Hyperplasia, Congenital
Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members--a preliminary report.
Adrenal Hyperplasia, Congenital
Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module.
Adrenal Hyperplasia, Congenital
Circadian blood pressure profiles and ambulatory arterial stiffness index in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.
Adrenal Hyperplasia, Congenital
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland.
Adrenal Hyperplasia, Congenital
Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria.
Adrenal Hyperplasia, Congenital
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs).
Adrenal Hyperplasia, Congenital
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006.
Adrenal Hyperplasia, Congenital
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in croatia between 1995 and 2006.
Adrenal Hyperplasia, Congenital
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density.
Adrenal Hyperplasia, Congenital
Classical Forms of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Adults.
Adrenal Hyperplasia, Congenital
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
Adrenal Hyperplasia, Congenital
Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
Adrenal Hyperplasia, Congenital
Clinical audit concerning the quality of management in patients with classic form of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the pre-screening era.
Adrenal Hyperplasia, Congenital
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.
Adrenal Hyperplasia, Congenital
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.
Adrenal Hyperplasia, Congenital
Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche.
Adrenal Hyperplasia, Congenital
Clinical forms of congenital adrenal hyperplasia: restriction length polypmorphism patterns in the CYP21 gene.
Adrenal Hyperplasia, Congenital
Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes.
Adrenal Hyperplasia, Congenital
Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.
Adrenal Hyperplasia, Congenital
Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Adrenal Hyperplasia, Congenital
Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families.
Adrenal Hyperplasia, Congenital
Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Cloning and expression of cDNA encoding a bovine adrenal cytochrome P-450 specific for steroid 21-hydroxylation.
Adrenal Hyperplasia, Congenital
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).
Adrenal Hyperplasia, Congenital
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
Adrenal Hyperplasia, Congenital
Coexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?
Adrenal Hyperplasia, Congenital
Cognitive Outcome in Adult Women Affected by Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Cold stress and congenital adrenal hyperplasia heterozygotes.
Adrenal Hyperplasia, Congenital
Comments about the need for prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Comments to "A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency"
Adrenal Hyperplasia, Congenital
Comments to a rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Comparison of different glucocorticoid regimens in the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Comparison of separation techniques in radioimmunoassays for 17-hydroxyprogesterone.
Adrenal Hyperplasia, Congenital
Comparison of three commercial assays for the measurement of 17alpha-hydroxyprogesterone (17alpha-OHPR): limitations of the quality control system.
Adrenal Hyperplasia, Congenital
Comparison of two different radioimmunoassays to measure 17-hydroxyprogesterone during treatment monitoring of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Compensatory maturational deceleration of growth or "catch-down growth" in patients with congenital adrenal hyperplasia after delayed initiation of therapy.
Adrenal Hyperplasia, Congenital
Complement C4 allotypes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: further evidence for different allelic variants at the 21-hydroxylase locus.
Adrenal Hyperplasia, Congenital
Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients.
Adrenal Hyperplasia, Congenital
Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Comprehensive Mutation Analysis of the CYP21A2 Gene: An Efficient Multistep Approach to the Molecular Diagnosis of Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Computed tomography findings of testicular adrenal rest tumors resulted from 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations.
Adrenal Hyperplasia, Congenital
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia and multiple sclerosis: is there an increased risk of multiple sclerosis in individuals with congenital adrenal hyperplasia?
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia and the function of adrenal medulla.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia because of 21-hydroxylase deficiency. A genetic disorder of interest to obstetricians and gynecologists.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Its molecular basis and its remaining therapeutic problems.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia caused by defect in steroid 21-hydroxylase. Establishment of definitive urinary steroid excretion pattern during first weeks of life.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia diagnosed in a man during workup for bilateral adrenal masses.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia diagnosed in a middle-aged woman.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency associated with bilateral keratoconus.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age.
Adrenal Hyperplasia, Congenital
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY PRESENTING AS ADRENAL INCIDENTALOMA: A SYSTEMATIC REVIEW AND META-ANALYSIS.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--the adult woman.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A five-year retrospective study in the Children's Hospital of Damascus, Syria.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review of current knowledge.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty.
Adrenal Hyperplasia, Congenital
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency. A study of five cases.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.
Adrenal Hyperplasia, Congenital
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia family studies using the short ACTH test.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia in adolescents: diagnosis and management.
Adrenal Hyperplasia, Congenital
Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Growth, development, and therapeutic considerations.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia presenting as massive adrenal incidentalomas in the sixth decade of life: report of two patients with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia presenting as pelvic inflammatory disease in a phenotypic male: A case report.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia with 11 beta-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia--a clinical and genetic survey. Are we detecting male salt-losers?
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia. Plasma and urinary steroid conjugates in seven children with steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia: epidemiology, management and practical drug treatment.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia: management during critical illness.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia: molecular mechanisms resulting in 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia: renin and steroid values during treatment.
Adrenal Hyperplasia, Congenital
Congenital Adrenal Hyperplasia: Review from a Surgeon's Perspective in the Beginning of the Twenty-First Century.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia: surgical considerations required to repair a 46,XX patient raised as a boy.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.
Adrenal Hyperplasia, Congenital
Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol.
Adrenal Hyperplasia, Congenital
Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
Adrenal Hyperplasia, Congenital
Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.
Adrenal Hyperplasia, Congenital
Consanguinity in question in two patients with congenital adrenal hyperplasia who bear an identical first and last name--second look.
Adrenal Hyperplasia, Congenital
Continuous subcutaneous hydrocortisone infusion (CSHI) in a young adolescent with congenital adrenal hyperplasia (CAH).
Adrenal Hyperplasia, Congenital
Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Cortical bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Cortisol and 17-hydroxyprogesterone kinetics in saliva after oral administration of hydrocortisone in children and young adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Coupling of HLA-A3,Cw6,Bw47,DR7 and a normal CA21HB steroid 21-hydroxylase gene in the Old Order Amish.
Adrenal Hyperplasia, Congenital
Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Current status of neonatal screening for congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.
Adrenal Hyperplasia, Congenital
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.
Adrenal Hyperplasia, Congenital
CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
CYP21 mutations in simple virilizing congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
Adrenal Hyperplasia, Congenital
CYP21A2 gene mutation in South Indian children with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children.
Adrenal Hyperplasia, Congenital
CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
Adrenal Hyperplasia, Congenital
CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.
Adrenal Hyperplasia, Congenital
CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
CYP21A2 intronic variants causing 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assay.
Adrenal Hyperplasia, Congenital
CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica.
Adrenal Hyperplasia, Congenital
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.
Adrenal Hyperplasia, Congenital
CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.
Adrenal Hyperplasia, Congenital
Daily profiles of salivary cortisol in hydrocortisone treated children with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Data on the 21-Hydroxylase deficient CAH patients and the identification of known/novel mutations in CYP21A2 gene.
Adrenal Hyperplasia, Congenital
Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients.
Adrenal Hyperplasia, Congenital
de novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings.
Adrenal Hyperplasia, Congenital
Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Decreased bone mineral density and vertebral compression fractures in a young adult male with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH): is CAH an unrecognized population at risk for glucocorticoid-induced osteoporosis?
Adrenal Hyperplasia, Congenital
Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Dehydroepiandrosterone induces a neuroendocrine phenotype in nerve growth factor-stimulated chromaffin pheochromocytoma PC12 cells.
Adrenal Hyperplasia, Congenital
Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening.
Adrenal Hyperplasia, Congenital
Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency.
Adrenal Hyperplasia, Congenital
Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism.
Adrenal Hyperplasia, Congenital
Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in macedonian patients with congenital adrenal hyperplasia and their relatives.
Adrenal Hyperplasia, Congenital
Detection of a novel severe mutation affecting the CYP21A2 gene in a Chilean male with salt wasting congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Detection of heterozygotes for congenital adrenal hyperplasia: 21-hydroxylase deficiency-a comparison of HLA typing and 17-OH progesterone response to ACTH infusion.
Adrenal Hyperplasia, Congenital
Detection of late onset steroid 21-hydroxylase deficiency by capillary gas chromatographic profiling of urinary steroids in children and adolescents.
Adrenal Hyperplasia, Congenital
Detection of late-onset 21-hydroxylase deficiency congenital adrenal hyperplasia in adolescents.
Adrenal Hyperplasia, Congenital
Detection of late-onset adrenal hyperplasia in girls with peripubertal virilization.
Adrenal Hyperplasia, Congenital
Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction.
Adrenal Hyperplasia, Congenital
Detection of the heterozygous state in siblings of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis.
Adrenal Hyperplasia, Congenital
Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus.
Adrenal Hyperplasia, Congenital
Development of a direct fluoroimmunoassay for serum levels of 17-hydroxyprogesterone.
Adrenal Hyperplasia, Congenital
Development of a direct [125I]radioimmunoassay for serum levels of 17-hydroxyprogesterone.
Adrenal Hyperplasia, Congenital
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Dexamethasone Induces Germ Cell Apoptosis in the Human Fetal Ovary.
Adrenal Hyperplasia, Congenital
Dexamethasone treatment of congenital adrenal hyperplasia in utero: an experimental therapy of unproven safety.
Adrenal Hyperplasia, Congenital
Diagnosis and management of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Diagnosis of 21-hydroxylase deficiency in newborn infants by GC-MS of urinary steroids.
Adrenal Hyperplasia, Congenital
Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry.
Adrenal Hyperplasia, Congenital
Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment.
Adrenal Hyperplasia, Congenital
Difference in transcriptional activity of two homologous CYP21A genes.
Adrenal Hyperplasia, Congenital
Different states of clinical control are associated with changes in IGF-I and IGFBPs in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.
Adrenal Hyperplasia, Congenital
Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification.
Adrenal Hyperplasia, Congenital
Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Disorders of sex development and female reproductive capacity: A literature review.
Adrenal Hyperplasia, Congenital
Disproportionate suppression of dehydroepiandrosterone sulfate (DHEAS) in treated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Dissociation of plasma renin activity and plasma aldosterone level during dexamethasone suppression test in non-salt-losers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Distribution of the V281L mutation of the CYP21 gene in Israeli congenital adrenal hyperplasia patients and its association with HLA- B14.
Adrenal Hyperplasia, Congenital
Diurnal variation in blood 17-hydroxyprogesterone concentrations in untreated congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
DNA and RNA analysis of cytochrome P-450 21-hydroxylase: transcriptional activity in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
DNA polymorphism unique for a complotype with deletion of HLA-linked C4B and 21-hydroxylase B genes causing congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency?
Adrenal Hyperplasia, Congenital
Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes.
Adrenal Hyperplasia, Congenital
Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.
Adrenal Hyperplasia, Congenital
E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Early diagnosis of congenital adrenal hyperplasia by measurement of 17-hydroxyprogesterone.
Adrenal Hyperplasia, Congenital
Early prenatal diagnosis of 21-hydroxylase deficiency using amniotic fluid 17-hydroxyprogesterone determination and DNA probes.
Adrenal Hyperplasia, Congenital
Ectopic adrenal rests in congenital adrenal hyperplasia as a cause of androgen excess after adrenalectomy detected by pelvic venous sampling.
Adrenal Hyperplasia, Congenital
Effect of aminoglutethimide on urinary steroid excretion in patients with congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Effect of androgen excess and glucocorticoid exposure on metabolic risk profiles in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Effect of carbenoxolone on the plasma renin activity and hypothalamic-pituitary-adrenal axis in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Effect of congenital adrenal hyperplasia treated by glucocorticoids on plasma metabolome: a machine-learning-based analysis.
Adrenal Hyperplasia, Congenital
Effect of cortisol treatment on hormonal relationships in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Effect of hydrocortisone dose schedule on adrenal steroid secretion in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Effects of adrenal steroids on the bone metabolism of children with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21).
Adrenal Hyperplasia, Congenital
Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients.
Adrenal Hyperplasia, Congenital
Efficacy and safety of prenatal dexamethasone treatment in offspring at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A systematic review and meta-analysis.
Adrenal Hyperplasia, Congenital
Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003.
Adrenal Hyperplasia, Congenital
Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Endocrinologic and psychologic evaluation of 21-hydroxylase deficiency carriers and matched normal subjects: evidence for physical and/or psychologic vulnerability to stress.
Adrenal Hyperplasia, Congenital
Energy Expenditure in 21-Hydroxylase Congenital Adrenal Hyperplasia Patients and Comparison with Predictive Equations.
Adrenal Hyperplasia, Congenital
Enzyme immunoassay for plasma renin activity: II. Clinical application.
Adrenal Hyperplasia, Congenital
Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.
Adrenal Hyperplasia, Congenital
Establishment of Clinical and Lab Algorithms for the Identification of Carriers of Mutations in CYP21A2 - A Study of 365 Children and Adolescents.
Adrenal Hyperplasia, Congenital
Estimation of percent body fat based on anthropometric measurements in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients.
Adrenal Hyperplasia, Congenital
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Etiology of primary adrenal insufficiency in children: a 29-year single-center experience.
Adrenal Hyperplasia, Congenital
Evaluating the accuracy of Malformations Surveillance Program in detecting virilization due to congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Everything the pediatrician ever wanted to know about HLA but was afraid to ask.
Adrenal Hyperplasia, Congenital
Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Excess weight and precocious pubarche in children: alterations of the adrenocortical hormones.
Adrenal Hyperplasia, Congenital
Exchangeable sodium and aldosterone secretion in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Executive functioning in children with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.
Adrenal Hyperplasia, Congenital
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Adrenal Hyperplasia, Congenital
Experts' Opinion on the Prenatal Therapy of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency - Guideline of DGKED in cooperation with DGGG (S1-Level, AWMF Registry No.?174/013, July 2015).
Adrenal Hyperplasia, Congenital
Expression and functional study of wild-type and mutant human cytochrome P450c21 in Saccharomyces cerevisiae.
Adrenal Hyperplasia, Congenital
Expression of human 21-hydroxylase (P450c21) in bacterial and mammalian cells: a system to characterize normal and mutant enzymes.
Adrenal Hyperplasia, Congenital
Extensive Bilateral Adrenal Rest Testicular Tumors in a Patient With 3?-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
Adrenal Hyperplasia, Congenital
Extensive clinical experience: nonclassical 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Extraadrenal steroid 21-hydroxylase activity in a woman with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Extraovarian steroid cell tumor 'not otherwise specified' as a rare cause of virilization in twelve-year-old girl.
Adrenal Hyperplasia, Congenital
Failure of steroid replacement to consistently normalize pituitary function in congenital adrenal hyperplasia: hormonal and MRI data.
Adrenal Hyperplasia, Congenital
False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Familial hypersecretion of adrenal androgens transmitted as a dominant, non-HLA linked trait.
Adrenal Hyperplasia, Congenital
Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands.
Adrenal Hyperplasia, Congenital
Fat Distribution and Lipid Profile of Young Adults with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Enzyme Deficiency.
Adrenal Hyperplasia, Congenital
Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening.
Adrenal Hyperplasia, Congenital
Female pseudohermaphroditism and inefficient peak bone mass in an untreated subject affected by 21-hydroxylase congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Female pseudohermaphroditism due to congenital adrenal hyperplasia complicated by adenocarcinoma of the prostate and clear cell carcinoma of the endometrium.
Adrenal Hyperplasia, Congenital
Fertility and body composition after laparoscopic bilateral adrenalectomy in a 30-year-old female with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Fertility and pregnancy outcome in a woman with classic congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Final Adult Height in Children with Congenital Adrenal Hyperplasia Treated with Growth Hormone.
Adrenal Hyperplasia, Congenital
Final height in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the Italian experience.
Adrenal Hyperplasia, Congenital
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy.
Adrenal Hyperplasia, Congenital
First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination.
Adrenal Hyperplasia, Congenital
First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).
Adrenal Hyperplasia, Congenital
Five patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (one with associated neuroblastoma) discovered in three generations of one family.
Adrenal Hyperplasia, Congenital
Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Flutamide decreases cortisol clearance in patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.
Adrenal Hyperplasia, Congenital
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
Adrenal Hyperplasia, Congenital
Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Frequency of a polymorphism in the regulatory region of the 17 alpha-hydroxylase-17,20-lyase (CYP17) gene in hyperandrogenic states.
Adrenal Hyperplasia, Congenital
Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.
Adrenal Hyperplasia, Congenital
Frequent deletion and duplication of the steroid 21-hydroxylase genes.
Adrenal Hyperplasia, Congenital
Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Functional and structural analysis of four novel mutations of CYP21A2 gene in italian patients with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
Adrenal Hyperplasia, Congenital
Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.
Adrenal Hyperplasia, Congenital
Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Functional studies of novel mutations in CYP21A2 detected in Norwegian patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene.
Adrenal Hyperplasia, Congenital
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.
Adrenal Hyperplasia, Congenital
Gender assignment for children with intersex problems: An Egyptian perspective.
Adrenal Hyperplasia, Congenital
Gender Dichotomy in Long Term Growth Trajectories of Children with 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Gender related differences in glucocorticoid therapy and growth outcomes among pubertal children with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH).
Adrenal Hyperplasia, Congenital
Gender role across development in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.
Adrenal Hyperplasia, Congenital
Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21-hydroxylase deficiency) in the Spanish population.
Adrenal Hyperplasia, Congenital
Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein.
Adrenal Hyperplasia, Congenital
Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types.
Adrenal Hyperplasia, Congenital
Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.
Adrenal Hyperplasia, Congenital
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.
Adrenal Hyperplasia, Congenital
Genetic aetiology of primary adrenal insufficiency in Chinese children.
Adrenal Hyperplasia, Congenital
Genetic analysis of Japanese patients with 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21.
Adrenal Hyperplasia, Congenital
Genetic analysis of the steroid 21-hydroxylase gene following in vitro amplification of genomic DNA.
Adrenal Hyperplasia, Congenital
Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.
Adrenal Hyperplasia, Congenital
Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21.
Adrenal Hyperplasia, Congenital
Genetic linkage and HLA association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.
Adrenal Hyperplasia, Congenital
Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation.
Adrenal Hyperplasia, Congenital
Genital surgery among females with congenital adrenal hyperplasia: changes over the past five decades.
Adrenal Hyperplasia, Congenital
Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Genotype, Phenotype and Hormonal Levels Correlation in Nonclassical Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.
Adrenal Hyperplasia, Congenital
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.
Adrenal Hyperplasia, Congenital
Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.
Adrenal Hyperplasia, Congenital
Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia.
Adrenal Hyperplasia, Congenital
Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba.
Adrenal Hyperplasia, Congenital
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients.
Adrenal Hyperplasia, Congenital
Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
Adrenal Hyperplasia, Congenital
Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: case report and literature review.
Adrenal Hyperplasia, Congenital
Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Genotyping of CYP21A2 for congenital adrenal hyperplasia screening using allele-specific primer extension followed by bead array hybridization.
Adrenal Hyperplasia, Congenital
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data.
Adrenal Hyperplasia, Congenital
Gestational age correlates to genotype in girls with CYP21 deficiency.
Adrenal Hyperplasia, Congenital
Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma.
Adrenal Hyperplasia, Congenital
Giant Bilateral Symptomatic Adrenal Myelolipomas Associated with Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Glucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Glucocorticoid receptors in patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Glucocorticoid treatment of girls with congenital adrenal hyperplasia: effects on height, sexual maturation, and fertility.
Adrenal Hyperplasia, Congenital
Glucocorticoid-induced increase in lymphocytic FKBP51 messenger ribonucleic acid expression: a potential marker for glucocorticoid sensitivity, potency, and bioavailability.
Adrenal Hyperplasia, Congenital
Glucocorticoid-induced osteoporosis in children with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Gonadal and adrenal catheterization during adrenal suppression and gonadal stimulation in a patient with bilateral testicular tumors and congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Growth and pubertal characteristics in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Growth and reproductive outcomes in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.
Adrenal Hyperplasia, Congenital
Growth in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Growth inhibition by glucocorticoid treatment in salt wasting 21-hydroxylase deficiency: in early infancy and (pre)puberty.
Adrenal Hyperplasia, Congenital
Growth of a progesterone receptor-positive meningioma in a female patient with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy.
Adrenal Hyperplasia, Congenital
Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment.
Adrenal Hyperplasia, Congenital
Growth pattern during the first 36 months of life in congenital adrenal hyperplasia (21-hydroxylase deficiency).
Adrenal Hyperplasia, Congenital
Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study.
Adrenal Hyperplasia, Congenital
Health Problems in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis.
Adrenal Hyperplasia, Congenital
Height outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Evidence from recent data.
Adrenal Hyperplasia, Congenital
Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Heterogeneity of steroid 21-hydroxylase genes in classical congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening.
Adrenal Hyperplasia, Congenital
High 17-hydroxyprogesterone level in newborn screening test for congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
High carrier frequency of 21-hydroxylase deficiency in Cyprus.
Adrenal Hyperplasia, Congenital
High frequency of Adrenal Myelolipomas and Testicular Adrenal Rest Tumours in adult Norwegian Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil.
Adrenal Hyperplasia, Congenital
High frequency of splice site mutation in 21-hydroxylase deficiency children.
Adrenal Hyperplasia, Congenital
High serum progesterone associated with infertility in a woman with nonclassic congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
High variability of CYP21 gene rearrangements in Spanish patients with classic form of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
High-resolution melting curve (HRM) analysis to establish CYP21A2 mutations converted from the CYP21A1P in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese.
Adrenal Hyperplasia, Congenital
HLA and hormonal data for identification of heterozygotes in 11 beta- and 17 alpha-hydroxylase deficiency syndromes.
Adrenal Hyperplasia, Congenital
HLA associations in patients with polycystic ovaries and in patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
HLA genotypes and HLA-linked genetic markers in Italian patients with classical 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
HLA haplotypes and hormonal studies in 25 Italian families of patients with classical and non-classical 21-OH deficiency.
Adrenal Hyperplasia, Congenital
HLA linkage and B14, DR1, BfS haplotype association with the genes for late onset and cryptic 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
HLA linkage to 21-hydroxylase congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
HLA typing and ACTH stimulation in the detection of carriers for 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
HLA typing of patients with 21-hydroxylase deficiency in Iranian children with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
HLA-A,B,C,DR typing and 17-OHP determination for second trimester prenatal diagnosis of 21-hydroxylase deficient CAH.
Adrenal Hyperplasia, Congenital
HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.
Adrenal Hyperplasia, Congenital
Home monitoring of 17 hydroxyprogesterone levels in congenitx127drenal hyperplasia with filter paper blood samples.
Adrenal Hyperplasia, Congenital
Hormonal and clinical responses to prednisone treatment in adolescents with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Hormonal phenotype and HLA-genotype in families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency).
Adrenal Hyperplasia, Congenital
Hormonal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
How can molecular biology contribute to the management of congenital adrenal hyperplasia?
Adrenal Hyperplasia, Congenital
Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE.
Adrenal Hyperplasia, Congenital
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect.
Adrenal Hyperplasia, Congenital
Hyperandrogenism due to 3 beta-hydroxysteroid dehydrogenase deficiency with accessory adrenocortical tissue: a hormonal and metabolic evaluation.
Adrenal Hyperplasia, Congenital
Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia.
Adrenal Hyperplasia, Congenital
Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Iatrogenic Cushing Syndrome in a Child With Congenital Adrenal Hyperplasia: Erroneous Compounding of Hydrocortisone.
Adrenal Hyperplasia, Congenital
Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with Simple Virilizing form of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Identification of 15 beta-hydroxylated C21 steroids in the neo-natal period: the role of 3 alpha,15 beta,17 alpha-trihydroxy-5 beta-pregnan-20-one in the perinatal diagnosis of congenital adrenal hyperplasia (CAH) due to a 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis. Mutations in brief no. 218. Online.
Adrenal Hyperplasia, Congenital
Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese.
Adrenal Hyperplasia, Congenital
Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.
Adrenal Hyperplasia, Congenital
Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests.
Adrenal Hyperplasia, Congenital
Identification of molecular defects causing congenital adrenal hyperplasia by cloning and differential hybridization of polymerase chain reaction-amplified 21-hydroxylase (CYP21) genes.
Adrenal Hyperplasia, Congenital
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.
Adrenal Hyperplasia, Congenital
Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche.
Adrenal Hyperplasia, Congenital
Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Identification of the recombination site within the steroid 21-hydroxylase gene (CYP21) of the HLA-B47,DR7 haplotype.
Adrenal Hyperplasia, Congenital
IGF-I-IGFBP-3-acid-labile subunit (ALS) complex in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH).
Adrenal Hyperplasia, Congenital
Imaging features of poorly controlled congenital adrenal hyperplasia in adults.
Adrenal Hyperplasia, Congenital
Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Impaired mineralocorticoid hormone responses to adrenocorticotropin stimulation: additional characterization of heterozygosity for the 21-hydroxylase deficiency type of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Impairment in anthropometric parameters and body composition in females with classical 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Implementing steroid profiling by liquid chromatography-tandem mass spectrometry improves newborn screening for congenital adrenal hyperplasia in New Zealand.
Adrenal Hyperplasia, Congenital
Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours.
Adrenal Hyperplasia, Congenital
In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant.
Adrenal Hyperplasia, Congenital
In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS).
Adrenal Hyperplasia, Congenital
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Inadequate testosterone suppression after medical and subsequent surgical castration in a patient with prostate cancer.
Adrenal Hyperplasia, Congenital
Increased Abdominal Adiposity in Adolescents and Young Adults With Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Increased Liver Enzymes in Adult Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Increased plasma 21-deoxycorticosterone (21-DB) levels in late-onset adrenal 21-hydroxylase deficiency suggest a mild defect of the mineralocorticoid pathway.
Adrenal Hyperplasia, Congenital
Increased prevalence of heterozygous 21-OH germline mutations in patients with adrenal incidentalomas.
Adrenal Hyperplasia, Congenital
Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Increased salt appetite in patients with congenital adrenal hyperplasia 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Increased urinary excretion of total 16 alpha-hydroxypregnenolone in newborn infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Indicators of adult height outcome in classical 21-hydroxylase deficiency congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Infant with classic congenital adrenal hyperplasia (CAH) born to a mother with classic CAH.
Adrenal Hyperplasia, Congenital
Infertility in a man with 21-hydroxylase deficient congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Infertility reversed by glucocorticoids and full-term pregnancy in a couple with previously undiagnosed nonclassic congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Influence of hormones on the immunotolerogenic molecule HLA-G: a cross-sectional study in patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Intelligence of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, their parents and unaffected siblings.
Adrenal Hyperplasia, Congenital
Intima media thickness of common carotids and abdominal aorta in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.
Adrenal Hyperplasia, Congenital
Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia?
Adrenal Hyperplasia, Congenital
Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect?
Adrenal Hyperplasia, Congenital
Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.
Adrenal Hyperplasia, Congenital
Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Lack of correlation between sex hormone binding globulin and free testosterone in some cases of "idiopathic" hirsutism.
Adrenal Hyperplasia, Congenital
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
Adrenal Hyperplasia, Congenital
Laparoscopic subtotal hysterectomy and bilateral adnexectomy in a child with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as isolated premature thelarche.
Adrenal Hyperplasia, Congenital
Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome.
Adrenal Hyperplasia, Congenital
Late-onset 21-hydroxylase deficiency is an allelic variant of congenital adrenal hyperplasia characterized by attenuated clinical expression and different HLA haplotype associations.
Adrenal Hyperplasia, Congenital
Late-onset adrenal hyperplasia in north Indian hirsute women.
Adrenal Hyperplasia, Congenital
Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Leukoencephalopathy in 21-beta hydroxylase deficiency: Report of a family.
Adrenal Hyperplasia, Congenital
Leydig cell tumor and malignant lymphoma in a patient with nonclassical 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Leydig Cell Tumour in a 46,XX Child with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Limitations of 17-hydroxyprogesterone in investigating neonatal hyponatraemia.
Adrenal Hyperplasia, Congenital
Limited value of serum steroid measurements in identification of mild form of 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Linear growth and pubertal development in treated congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Linkage and association between HLA and 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family.
Adrenal Hyperplasia, Congenital
Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype.
Adrenal Hyperplasia, Congenital
Liver mRNA probes disclose two cytochrome P-450 genes duplicated in tandem with the complement C4 loci of the mouse H-2S region.
Adrenal Hyperplasia, Congenital
Long term outcome in adult males with classic congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males.
Adrenal Hyperplasia, Congenital
Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults.
Adrenal Hyperplasia, Congenital
Long-term Follow up of Congenital Adrenal Hyperplasia Patients with Hyponatremia.
Adrenal Hyperplasia, Congenital
Long-term follow-up of a female patient with non-classical 11?-hydroxylase deficiency and two novel mutations in CYP11B1.
Adrenal Hyperplasia, Congenital
Long-term follow-up of female patients with congenital adrenal hyperplasia from 21-hydroxylase deficiency, with special emphasis on the results of vaginoplasty.
Adrenal Hyperplasia, Congenital
Long-term glucocorticoid effect on bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Long-term management of patients with disorders of sex development (DSD).
Adrenal Hyperplasia, Congenital
Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Long-Term Outcome of Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients.
Adrenal Hyperplasia, Congenital
Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population.
Adrenal Hyperplasia, Congenital
Management considerations for the adult with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.
Adrenal Hyperplasia, Congenital
Management of 21-hydroxylase deficiency congenital adrenal hyperplasia: A survey of Canadian paediatric endocrinologists.
Adrenal Hyperplasia, Congenital
Management of ambiguous genitalia in pseudohermaphrodites: new perspectives on vaginal dilation.
Adrenal Hyperplasia, Congenital
Management of congenital adrenal hyperplasia using serum dehydroepiandrosterone sulfate and 17-hydroxyprogesterone concentrations.
Adrenal Hyperplasia, Congenital
Management of congenital adrenal hyperplasia: beyond conventional glucocorticoid therapy.
Adrenal Hyperplasia, Congenital
MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.
Adrenal Hyperplasia, Congenital
Management of the adult with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Management of the child with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Masked high progesterone levels during in vitro fertilization and embryo transfer treatment in a patient with 21-hydroxylase deficiency: A case report.
Adrenal Hyperplasia, Congenital
Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand.
Adrenal Hyperplasia, Congenital
Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X.
Adrenal Hyperplasia, Congenital
Measuring the structural impact of mutations on cytochrome P450 21A2, the major steroid 21-hydroxylase related to congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Menstrual bleeding in a female infant with congenital adrenal hyperplasia: altered maturation of the hypothalamic-pituitary-ovarian axis.
Adrenal Hyperplasia, Congenital
Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Metabolic evaluation of young women with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Metabolic profile and cardiovascular risk factors in adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Metabolic syndrome manifestations in classic congenital adrenal hyperplasia: do they predispose to atherosclerotic cardiovascular disease and secondary polycystic ovary syndrome?
Adrenal Hyperplasia, Congenital
Metformin-responsive classic salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report.
Adrenal Hyperplasia, Congenital
Microsatellite markers in the indirect analysis of the steroid 21-hydroxylase gene.
Adrenal Hyperplasia, Congenital
Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.
Adrenal Hyperplasia, Congenital
Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients.
Adrenal Hyperplasia, Congenital
Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
Adrenal Hyperplasia, Congenital
Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.
Adrenal Hyperplasia, Congenital
Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.
Adrenal Hyperplasia, Congenital
Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene.
Adrenal Hyperplasia, Congenital
Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
Adrenal Hyperplasia, Congenital
Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan.
Adrenal Hyperplasia, Congenital
Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
Adrenal Hyperplasia, Congenital
Molecular Defects of the CYP21A2 Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a study of 27 families.
Adrenal Hyperplasia, Congenital
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.
Adrenal Hyperplasia, Congenital
Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene.
Adrenal Hyperplasia, Congenital
Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.
Adrenal Hyperplasia, Congenital
Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Molecular genetic analysis in 93 patients and 193 family members with Classical Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency in Croatia.
Adrenal Hyperplasia, Congenital
Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations.
Adrenal Hyperplasia, Congenital
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
Adrenal Hyperplasia, Congenital
Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization.
Adrenal Hyperplasia, Congenital
Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
Adrenal Hyperplasia, Congenital
Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras.
Adrenal Hyperplasia, Congenital
Molecular genetics and the characterization of steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.
Adrenal Hyperplasia, Congenital
Molecular genetics of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in Taiwan.
Adrenal Hyperplasia, Congenital
Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Monozygotic twins with congenital adrenal hyperplasia: long-term endocrine evaluation and gene analysis.
Adrenal Hyperplasia, Congenital
Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany.
Adrenal Hyperplasia, Congenital
Multiple tumors associated with late-onset congenital adrenal hyperplasia due to aberrant splicing of adrenal 21-hydroxylase gene.
Adrenal Hyperplasia, Congenital
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.
Adrenal Hyperplasia, Congenital
Multiplex ligation-dependent probe amplification analysis is useful for diagnosing congenital adrenal hyperplasia but requires a deep knowledge of CYP21A2 genetics.
Adrenal Hyperplasia, Congenital
Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Multiplexed steroid profiling of gluco- and mineralocorticoids pathways using a liquid chromatography tandem mass spectrometry method.
Adrenal Hyperplasia, Congenital
Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.
Adrenal Hyperplasia, Congenital
Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Mutation Analysis of the CYP21A2 Gene in the Iranian Population.
Adrenal Hyperplasia, Congenital
Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche.
Adrenal Hyperplasia, Congenital
Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.
Adrenal Hyperplasia, Congenital
Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.
Adrenal Hyperplasia, Congenital
Mutational analysis of CYP21A2 gene and CYP21A1P pseudogene: long-range PCR on genomic DNA.
Adrenal Hyperplasia, Congenital
Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.
Adrenal Hyperplasia, Congenital
Mutational Characterization of Steroid 21-Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.
Adrenal Hyperplasia, Congenital
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.
Adrenal Hyperplasia, Congenital
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
Adrenal Hyperplasia, Congenital
Mutations in the CYP21 B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
Adrenal Hyperplasia, Congenital
Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability.
Adrenal Hyperplasia, Congenital
Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China.
Adrenal Hyperplasia, Congenital
Neonatal salt loss in the hypertensive form of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17-alpha-hydroxyprogesterone assay.
Adrenal Hyperplasia, Congenital
Neonatal screening for congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants.
Adrenal Hyperplasia, Congenital
Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone.
Adrenal Hyperplasia, Congenital
Neonatal screening: identification of children with 11?-hydroxylase deficiency by second-tier testing.
Adrenal Hyperplasia, Congenital
New developments in prenatal diagnosis of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
New identified 15 beta-hydroxylated 21-deoxy-pregnanes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Newborn screening for congenital adrenal hyperplasia in Wisconsin.
Adrenal Hyperplasia, Congenital
Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy.
Adrenal Hyperplasia, Congenital
Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
Adrenal Hyperplasia, Congenital
Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
No evidence for a difference in 2D:4D ratio between youth with elevated prenatal androgen exposure due to congenital adrenal hyperplasia and controls.
Adrenal Hyperplasia, Congenital
Non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in families from a Greek island with a closed society.
Adrenal Hyperplasia, Congenital
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.
Adrenal Hyperplasia, Congenital
Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency that Developed into Symptomatic Severe Hyponatremia.
Adrenal Hyperplasia, Congenital
Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development.
Adrenal Hyperplasia, Congenital
Non-functioning adrenal incidentalomas caused by 21-hydroxylase deficiency or carrier status?
Adrenal Hyperplasia, Congenital
Non-identical newborn twins with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Nonclassic congenital adrenal hyperplasia and the heterozygote carrier.
Adrenal Hyperplasia, Congenital
Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome.
Adrenal Hyperplasia, Congenital
Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?
Adrenal Hyperplasia, Congenital
NONCLASSICAL 21-HYDROXYLASE DEFICIENCY PRESENTED AS ADDISON'S DISEASE AND BILATERAL ADRENAL INCIDENTALOMAS.
Adrenal Hyperplasia, Congenital
Nonclassical congenital adrenal hyperplasia: targets of treatment and transition.
Adrenal Hyperplasia, Congenital
Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA.
Adrenal Hyperplasia, Congenital
Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma.
Adrenal Hyperplasia, Congenital
Nonsense mutation causing steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype.
Adrenal Hyperplasia, Congenital
Normal bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy.
Adrenal Hyperplasia, Congenital
Normal bone mineral content in young adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Normal external genitalia in a female with classical congenital adrenal hyperplasia who was not treated during embryogenesis.
Adrenal Hyperplasia, Congenital
Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Normal intelligence in female and male patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Normalization of height and excess body fat in children with salt-wasting 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines.
Adrenal Hyperplasia, Congenital
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl.
Adrenal Hyperplasia, Congenital
Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Observation of hypertension in children with 21-hydroxylase deficiency: a preliminary report.
Adrenal Hyperplasia, Congenital
Occurrence of male phenotype in genotypic females with congenital virilizing adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.
Adrenal Hyperplasia, Congenital
Only two amino acid substitutions of I236N and V237E in exon 6 are converted to the CYP21 gene in a Chinese patient with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Ontogeny of adrenal steroid biosynthesis: why girls will be girls.
Adrenal Hyperplasia, Congenital
Ovarian 'tumor' of the adrenogenital syndrome: the first reported case.
Adrenal Hyperplasia, Congenital
Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy.
Adrenal Hyperplasia, Congenital
Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women.
Adrenal Hyperplasia, Congenital
Ovarian Steroid Cell Tumor Masquerading as Steroid-Unresponsive Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Ovarian steroid cell tumor, not otherwise specified, associated with congenital adrenal hyperplasia: rare tumors of an endocrine disease.
Adrenal Hyperplasia, Congenital
Ovarian steroidogenesis in an adrenalectomized girl with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Ovarian suppression reduces clinical and endocrine expression of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Overdiagnosis of 21-hydroxylase late onset congenital adrenal hyperplasia: correlation of corticotropin test and human leukocyte antigen typing.
Adrenal Hyperplasia, Congenital
p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.
Adrenal Hyperplasia, Congenital
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency can achieve their target height: the Leipzig experience.
Adrenal Hyperplasia, Congenital
Patterns of growth from birth to maturity in infants and children with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
PB-Motif-A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping.
Adrenal Hyperplasia, Congenital
PCR based diagnosis of 21-hydroxylase gene defects in Slovak patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module.
Adrenal Hyperplasia, Congenital
Performance of Phalangeal Quantitative Ultrasound Parameters in the Evaluation of Reduced Bone Mineral Density Assessed By DX in Patients with 21 Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Perioperative care of congenital adrenal hyperplasia - a disparity of physician practices in Canada.
Adrenal Hyperplasia, Congenital
Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Pharmacologic suppression of the fetal adrenal gland in utero. Attempted prevention of abnormal external genital masculinization in suspected congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Pharmacological agents in pregnancy to improve fetal conditions: prevention of fetal cardiac insufficiency, consequences of congenital adrenal hyperplasia and respiratory distress syndrome.
Adrenal Hyperplasia, Congenital
Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
Adrenal Hyperplasia, Congenital
Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.
Adrenal Hyperplasia, Congenital
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Phenotypic Profiling of Parents with Cryptic Nonclassic Congenital Adrenal Hyperplasia: Findings in 145 Unrelated Families.
Adrenal Hyperplasia, Congenital
Pigmented adrenal hyperplasia with myelolipomatous changes and bilateral testicular enlargement in an untreated man with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Pitfall of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Pitfalls of PCR-based genotyping in patients with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Pituitary-adrenal axis activity in treated congenital adrenal hyperplasia: static and dynamic studies.
Adrenal Hyperplasia, Congenital
Pituitary-adrenal responses to corticotropin-releasing hormone in different degrees of adrenal 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Plasma 3 alpha-androstanediol glucuronide in normal children and in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Plasma 3 beta-hydroxy-delta 5-steroids in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Plasma aldosterone concentrations related to 17alpha-hydroxyprogesterone in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Plasma levels of androgens and 17 alpha-OH-progesterone as an index of the adequacy of treatment in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants.
Adrenal Hyperplasia, Congenital
Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.
Adrenal Hyperplasia, Congenital
Postmortem diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia: medico-legal issues.
Adrenal Hyperplasia, Congenital
Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.
Adrenal Hyperplasia, Congenital
Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity.
Adrenal Hyperplasia, Congenital
Pregnancy outcomes in women with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia.
Adrenal Hyperplasia, Congenital
Premature Adrenarche and its Association with Cardiovascular Risk in Females.
Adrenal Hyperplasia, Congenital
Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene.
Adrenal Hyperplasia, Congenital
Prenatal and early postnatal treatment of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Prenatal dexamethasone treatment in pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: effect on midgestational amniotic fluid steroid levels.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis and management of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis and treatment of 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis and treatment of adrenogenital syndrome (steroid 21-hydroxylase deficiency).
Adrenal Hyperplasia, Congenital
Prenatal diagnosis and treatment of congenital adrenal hyperplasia and consequences in adults.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis and treatment of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Adrenal Hyperplasia, Congenital
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia by simultaneous radioimmunoassay of 21-deoxycortisol and 17-hydroxyprogesterone in amniotic fluid.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of a heterozygote of salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency by genetic linkage analysis.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: comparison with HLA typing in 17 pregnancies at risk for CAH.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of congenital adrenal hyperplasia caused by p450 oxidoreductase deficiency.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by amniotic fluid steroid analysis.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency with DNA analysis.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis.
Adrenal Hyperplasia, Congenital
Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification.
Adrenal Hyperplasia, Congenital
Prenatal fetal adrenal suppression following in utero diagnosis of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study.
Adrenal Hyperplasia, Congenital
Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a 10 year experience.
Adrenal Hyperplasia, Congenital
Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Prenatal treatment of congenital adrenal hyperplasia-not standard of care.
Adrenal Hyperplasia, Congenital
Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas.
Adrenal Hyperplasia, Congenital
Prevalence of non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with acne: a hospital-based cross-sectional study.
Adrenal Hyperplasia, Congenital
Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.
Adrenal Hyperplasia, Congenital
Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Adrenal Hyperplasia, Congenital
Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected.
Adrenal Hyperplasia, Congenital
Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Problems in diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Psychological vulnerability to stress in carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency.
Adrenal Hyperplasia, Congenital
Quantitation of 17-OH-progesterone (OHPG) for diagnosis of congenital adrenal hyperplasia (CAH).
Adrenal Hyperplasia, Congenital
R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
Adrenal Hyperplasia, Congenital
Radioimmunoassay for 21-deoxycortisol: clinical applications.
Adrenal Hyperplasia, Congenital
Rapid monitoring assay of congenital adrenal hyperplasia with microbore high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots.
Adrenal Hyperplasia, Congenital
Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report.
Adrenal Hyperplasia, Congenital
Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review.
Adrenal Hyperplasia, Congenital
Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Real-time detection of allele-specific polymerase chain reaction products by automated ultra-thin-layer agarose gel electrophoresis.
Adrenal Hyperplasia, Congenital
Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital.
Adrenal Hyperplasia, Congenital
Reduced need of glucocorticoid therapy in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency during pregnancy.
Adrenal Hyperplasia, Congenital
Reinstitution of mineralocorticoid therapy in congenital adrenal hyperplasia. Effects on control and growth.
Adrenal Hyperplasia, Congenital
Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.
Adrenal Hyperplasia, Congenital
Relationships of basal level of serum 17-hydroxyprogesterone with that of serum androstenedione and their stimulated responses to a low dose of ACTH in young adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency.
Adrenal Hyperplasia, Congenital
Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice.
Adrenal Hyperplasia, Congenital
Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Restriction fragment length polymorphism study of families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Taiwan.
Adrenal Hyperplasia, Congenital
Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone.
Adrenal Hyperplasia, Congenital
Reversed-phase high-performance liquid chromatography separation of adrenal steroids prior to radioimmunoassay: application in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Reversible infertility in a man with 21-hydroxylase deficiency congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Reversible male infertility due to congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Reversible male infertility in late onset congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.
Adrenal Hyperplasia, Congenital
Risk factors for hospitalization of children with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Salivary and plasma androstenedione and 17-hydroxyprogesterone levels in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Salivary morning androstenedione and 17?-OH progesterone levels in childhood and puberty in patients with classic congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "Mild" Mutations.
Adrenal Hyperplasia, Congenital
Salt-wasting 21-hydroxylase deficiency congenital adrenal hyperplasia and pyloric stenosis in two Hispanic brothers.
Adrenal Hyperplasia, Congenital
Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.
Adrenal Hyperplasia, Congenital
Salt-wasting congenital adrenal hyperplasia: detection of mutations in CYP21B gene in a Chilean population.
Adrenal Hyperplasia, Congenital
Screening for late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Screening for neonatal endocrinopathies: rationale, methods and results.
Adrenal Hyperplasia, Congenital
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Sequence analysis of CYP21A1P in a German population to aid in the molecular biological diagnosis of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Sequential use of hydrocortisone and dexamethasone in prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Serum 17-hydroxypregnenolone and 17-hydroxypregnenolone sulfate concentrations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Serum 3 alpha-androstanediol glucuronide measurements in children with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Serum 3 alpha-androstanediol glucuronide measurements in sexually mature women with congenital adrenal hyperplasia during therapy.
Adrenal Hyperplasia, Congenital
Serum androgen concentrations in neonates and young infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory?
Adrenal Hyperplasia, Congenital
Serum cortisol in adrenal hirsutism as estimated by five different methods.
Adrenal Hyperplasia, Congenital
Serum leptin levels in patients with 21-hydroxylase deficiency before and after treatment.
Adrenal Hyperplasia, Congenital
Serum Steroid Pro?ling by Liquid Chromatography-Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report.
Adrenal Hyperplasia, Congenital
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum.
Adrenal Hyperplasia, Congenital
Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception.
Adrenal Hyperplasia, Congenital
Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess.
Adrenal Hyperplasia, Congenital
Sexual orientation of 46, XX patients with congenital adrenal hyperplasia: a descriptive review.
Adrenal Hyperplasia, Congenital
Sexual well-being in adult male patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Sharing of MHC haplotypes among apparently unrelated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Simultaneous analysis of various mutations on the 21-hydroxylase gene by multi-allele specific amplification and capillary gel electrophoresis.
Adrenal Hyperplasia, Congenital
Simultaneous detection of five mutations in the steroid 21-hydroxylase gene using nested allele-specific amplification.
Adrenal Hyperplasia, Congenital
Simultaneous measurement of eight corticosteroids by liquid chromatography, and application of the procedure to diagnosis of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Single-nucleotide polymorphisms in intron 2 of CYP21P: evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Sodium chloride supplement at diagnosis and during infancy in children with salt-losing 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Spatial function in adolescents and young adults with congenital adrenal hyperplasia: Clinical phenotype and implications for the androgen hypothesis.
Adrenal Hyperplasia, Congenital
Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Steroid 17-hydroxyprogesterone in hair is a potential long-term biomarker of androgen control in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236n/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein.
Adrenal Hyperplasia, Congenital
Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Adrenal Hyperplasia, Congenital
Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.
Adrenal Hyperplasia, Congenital
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
Adrenal Hyperplasia, Congenital
Steroid 21-hydroxylase expression and activity in human lymphocytes.
Adrenal Hyperplasia, Congenital
STEROID 21-HYDROXYLASE GENE MUTATIONAL SPECTRUM IN 454 ARGENTINEAN PATIENTS: GENOTYPE-PHENOTYPE CORRELATION IN A LARGE COHORT OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA.
Adrenal Hyperplasia, Congenital
Steroid excretion patterns in urine from two boys in the neonatal period with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Steroidogenic enzyme expression within the adrenal cortex during early human gestation.
Adrenal Hyperplasia, Congenital
Stigma Associated with Classical Congenital Adrenal Hyperplasia in Women's Sexual Lives.
Adrenal Hyperplasia, Congenital
Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Structure and expression of the CYP21 (P450c21, steroid 21-hydroxylase) gene with respect to its deficiency.
Adrenal Hyperplasia, Congenital
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Adrenal Hyperplasia, Congenital
Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.
Adrenal Hyperplasia, Congenital
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Studies of the C-21 and C-19 steroids and HLA genotyping in siblings and parents of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Study of a kindred with classic congenital adrenal hyperplasia: diagnostic challenge due to phenotypic variance.
Adrenal Hyperplasia, Congenital
Study of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA-A*33:01; B*14:02; C*08:02 as a genetic marker.
Adrenal Hyperplasia, Congenital
Subnormal androgen and elevated progesterone levels in women treated for congenital virilizing 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in sweden.
Adrenal Hyperplasia, Congenital
Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Successful pregnancy after the treatment of primary amenorrhea in a patient with non-classical congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Successful pregnancy in a woman with rare compound heterozygoticity for congenital adrenal hyperplasia; case report.
Adrenal Hyperplasia, Congenital
Successful prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Successful prenatal treatment of congenital adrenal hyperplasia resulting from the 21-hydroxylase deficiency: is prenatal diagnosis in a mother at risk essential?
Adrenal Hyperplasia, Congenital
Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Surgical reconstruction of the genitalia in a 3-year-old infant with a 46XX karyotype: case report.
Adrenal Hyperplasia, Congenital
Survival of steroid 21-hydroxylase-deficient mice without endogenous corticosteroids after neonatal treatment and genetic rescue by transgenesis as a model system for treatment of congenital adrenal hyperplasia in humans.
Adrenal Hyperplasia, Congenital
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Temporal and individual variations in the dose of glucocorticoid used for the treatment of salt-losing congenital virilizing adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome.
Adrenal Hyperplasia, Congenital
Testicular adrenal rest "tumor" or Leydig cell tumor? A report of a challenging case with literature review.
Adrenal Hyperplasia, Congenital
Testicular adrenal rest hyperplasia due to 21-hydroxylase deficiency: a case report.
Adrenal Hyperplasia, Congenital
Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review.
Adrenal Hyperplasia, Congenital
Testicular adrenal rest tumors develop independently of long-term disease control: A longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
Adrenal Hyperplasia, Congenital
Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies).
Adrenal Hyperplasia, Congenital
Testicular adrenal-like tissue in a patient with 17 alpha-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Testicular enlargement in patients with 11-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Testicular tumors in congenital adrenal hyperplasia: steroid measurements from adrenal and spermatic veins.
Adrenal Hyperplasia, Congenital
Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue.
Adrenal Hyperplasia, Congenital
The -104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction.
Adrenal Hyperplasia, Congenital
The 21-hydroxylase activity in the glomerulosa and fasciculata of the adrenal cortex in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred--an estimate based on a public neonatal screening program in the state of Goiás.
Adrenal Hyperplasia, Congenital
The attenuated form of congenital adrenal hyperplasia as an allelic form of 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
The balance of cortisol-cortisone interconversion is shifted towards cortisol in neonates with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
The biochemical basis for genotyping 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.
Adrenal Hyperplasia, Congenital
The early recognition of the 21-hydroxylase deficiency variety of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
The effect of long acting glucocorticoids on menstrual abnormalities in patients with virilizing congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
The experience of women living with Congenital Adrenal Hyperplasia: impact of the condition and the care given.
Adrenal Hyperplasia, Congenital
The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.
Adrenal Hyperplasia, Congenital
The frequency of 21-alpha hydroxylase enzyme deficiency and related sex hormones in Iraqi healthy male subjects versus patients with acne vulgaris.
Adrenal Hyperplasia, Congenital
The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
The HLA associations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a Yugoslav population.
Adrenal Hyperplasia, Congenital
The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region.
Adrenal Hyperplasia, Congenital
The hypothalamic-pituitary-adrenal axis in partial (late-onset) 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
The impact of 21-hydroxylase deficiency on cardiac repolarization changes in children with 21-hydroxylasedeficient congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family.
Adrenal Hyperplasia, Congenital
The importance and implications of preconception genetic testing for accurate fetal risk estimation in 21-hydroxylase congenital adrenal hyperplasia (CAH).
Adrenal Hyperplasia, Congenital
The Importance of Heteroduplexes in Interpreting the Results of PCR-RED Diagnostic Assays: Application to the Analysis of Mutations in the Steroid 21-Hydroxylase Gene in a Case of Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
The in vitro metabolism of 11?-hydroxyprogesterone and 11-ketoprogesterone to 11-ketodihydrotestosterone in the backdoor pathway.
Adrenal Hyperplasia, Congenital
The incidence of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency among hirsute women.
Adrenal Hyperplasia, Congenital
The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene.
Adrenal Hyperplasia, Congenital
The influence of prenatal dexamethasone treatment on urinary excretion of adrenocortical steroids in newborns.
Adrenal Hyperplasia, Congenital
The management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
The measurement of 11 beta-hydroxy-4-pregnene-3,20-dione (21-deoxycorticosterone) by radioimmunoassay in human plasma.
Adrenal Hyperplasia, Congenital
The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene.
Adrenal Hyperplasia, Congenital
The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
Adrenal Hyperplasia, Congenital
The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations.
Adrenal Hyperplasia, Congenital
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism.
Adrenal Hyperplasia, Congenital
The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome.
Adrenal Hyperplasia, Congenital
The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
The ratio of androstenedione:11 beta-hydroxyandrostenedione is an important marker of adrenal androgen excess in women.
Adrenal Hyperplasia, Congenital
The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
The Recalled Childhood Gender Questionnaire-Revised: a psychometric analysis in a sample of women with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
The relationship of carotid intima-media thickness with anthropometric and metabolic parameters in patients with classic congenital adrenal hyperplasia
Adrenal Hyperplasia, Congenital
The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions.
Adrenal Hyperplasia, Congenital
The role of heterozygosity for CYP21 in the polycystic ovary syndrome.
Adrenal Hyperplasia, Congenital
The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.
Adrenal Hyperplasia, Congenital
The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.
Adrenal Hyperplasia, Congenital
The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.
Adrenal Hyperplasia, Congenital
The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.
Adrenal Hyperplasia, Congenital
The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients.
Adrenal Hyperplasia, Congenital
Theca function in polycystic ovaries of a patient with virilizing congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype.
Adrenal Hyperplasia, Congenital
Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
Adrenal Hyperplasia, Congenital
Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Tildacerfont in Adults with Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies.
Adrenal Hyperplasia, Congenital
Total urogenital mobilization by CAH: A step-by-step illustration of the technique.
Adrenal Hyperplasia, Congenital
Transient central precocious puberty in non-classic 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Transition of Care from Childhood to Adulthood: Congenital Adrenal Hyperplasia.
Adrenal Hyperplasia, Congenital
Treatment and health outcomes in adults with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Treatment and outcome of congenital adrenal hyperplasia: 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Treatment of adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a clinical practice audit.
Adrenal Hyperplasia, Congenital
Treatment with flutamide decreases cortisol clearance: implications for therapy in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Turner syndrome with positive SRY gene and non-classical congenital adrenal hyperplasia: A case report.
Adrenal Hyperplasia, Congenital
Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B.
Adrenal Hyperplasia, Congenital
Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation.
Adrenal Hyperplasia, Congenital
Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.
Adrenal Hyperplasia, Congenital
Uniparental disomy as a cause of pediatric endocrine disorders.
Adrenal Hyperplasia, Congenital
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.
Adrenal Hyperplasia, Congenital
Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency confirmed by HLA tissue typing.
Adrenal Hyperplasia, Congenital
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene.
Adrenal Hyperplasia, Congenital
Update on adrenal steroid hormone biosynthesis and clinical implications.
Adrenal Hyperplasia, Congenital
Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Urinary 17 alpha-hydroxyprogesterone in management of 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Urinary steroidomic profiles by LC-MS/MS to monitor classic 21-Hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Use of an aromatase inhibitor in children with congenital adrenal hyperplasia: Impact of anastrozole on bone mineral density and visceral adipose tissue.
Adrenal Hyperplasia, Congenital
Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Use of PCR-based amplification analysis as a substitute for the southern blot method for CYP21 deletion detection in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Usefulness of an ACTH test in the diagnosis of nonclassical 21-hydroxylase deficiency among children presenting with premature pubarche.
Adrenal Hyperplasia, Congenital
Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population.
Adrenal Hyperplasia, Congenital
Value of direct measurement of active renin concentrations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency.
Adrenal Hyperplasia, Congenital
Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital
Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.
Adrenal Hyperplasia, Congenital
Virilization without adrenal hyperplasia in 21-hydroxylase deficiency during fetal life.
Adrenal Hyperplasia, Congenital
Voice characteristics in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Voice problems due to virilization in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Weight Loss during Topiramate Treatment in a Severely Obese Adolescent with Congenital Adrenal Hyperplasia and Migraine.
Adrenal Hyperplasia, Congenital
What is the best approach to the teenage patient presenting with nonclassical congenital adrenal hyperplasia: should we always treat with glucocorticoids?
Adrenal Hyperplasia, Congenital
Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty?
Adrenal Hyperplasia, Congenital
Woman with virilizing congenital adrenal hyperplasia and leydig cell tumor of the ovary.
Adrenal Hyperplasia, Congenital
Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Hyperplasia, Congenital
[21-Hydroxylase deficiency. Clinical expression of heterozygote carriers in a family]
Adrenal Hyperplasia, Congenital
[A case of adrenal myelolipoma associated with adrenogenital syndrome]
Adrenal Hyperplasia, Congenital
[A case report: reversible male infertility due to congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[A genetic and hormonal study of 5 patients with the nonclassical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[A method for the quantitative analysis of steroid hormones by HPLC/RIA]
Adrenal Hyperplasia, Congenital
[A molecular method of diagnosis of congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[Acute complications during treatment of virilizing congenital adrenal hyperplasia deficiency due to 21-hydroxylase]
Adrenal Hyperplasia, Congenital
[Adrenogenital syndrome--diagnosis, treatment and therapeutic control]
Adrenal Hyperplasia, Congenital
[Adrenogenital syndrome: feminizing genital reconstruction]
Adrenal Hyperplasia, Congenital
[Aggravation of salt loss due to hydrocortisone in the first days of treatment of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia].
Adrenal Hyperplasia, Congenital
[Analysis of the association of HLA-DQ1 alleles with mutation of the 21-hydroxylase gene in patients with congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[Analysis of the degree of clinical suspect in patients with congenital adrenal hyperplasia by 21-hydroxylase deficiency before obtaining the result of the newborn screening program of the autonomous Community of Madrid.]
Adrenal Hyperplasia, Congenital
[Analysis of the spectra of mutational damage of the 21-hydroxylase gene in patients with adreno-genital syndrome]
Adrenal Hyperplasia, Congenital
[Anesthetic management of a patient with 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Antenatal detection of congenital adrenal hyperplasia. Deficiency of 21-hydroxylase]
Adrenal Hyperplasia, Congenital
[Antenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Association of congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency and bilateral testicular tumor]
Adrenal Hyperplasia, Congenital
[Biochemical markers of congenital adrenal hyperplasia and impaired steroidogenesis].
Adrenal Hyperplasia, Congenital
[Body composition in females with 21-hydroxylase deficiency: comparison of anthropometric methods and bioelectric impedance in relation to a control group].
Adrenal Hyperplasia, Congenital
[Case of salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency and a short stature caused by early closure of epiphyseal lines in spite of steroid replacement therapy]
Adrenal Hyperplasia, Congenital
[Characterization of ovarian adrenal rest tumors in children and adolescent females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
Adrenal Hyperplasia, Congenital
[Characterization of steroid 21-hydroxylase gene mutations in a oligosymptomatic form of congenital adrenal hyperplasia: family study]
Adrenal Hyperplasia, Congenital
[Classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Genetic considerations in light of personal studies]
Adrenal Hyperplasia, Congenital
[Clinical polymorphism of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency and HLA phenotype]
Adrenal Hyperplasia, Congenital
[Clinical significance of plasma renin, testosterone, 17-alpha-hydroxyprogesterone and ACTH activities in the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. A review of 31 cases]
Adrenal Hyperplasia, Congenital
[Comparative study of prednisolone versus hydrocortisone acetate for treatment of patients with the classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Congenital adrenal hyperplasia and growth hormone deficiency. Special care in transition to adulthood]
Adrenal Hyperplasia, Congenital
[Congenital adrenal hyperplasia as a result of 21-hydroxylase block. Review of 10 cases]
Adrenal Hyperplasia, Congenital
[Congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--management in adults].
Adrenal Hyperplasia, Congenital
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: final height in 27 patients with the classical form]
Adrenal Hyperplasia, Congenital
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation].
Adrenal Hyperplasia, Congenital
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Congenital adrenal hyperplasia due to 21-hydroxylase enzyme deficiency]
Adrenal Hyperplasia, Congenital
[Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Congenital adrenal hyperplasia in the adult women: management of old and new challenges].
Adrenal Hyperplasia, Congenital
[Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency presenting with erythrocytosis.]
Adrenal Hyperplasia, Congenital
[Congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Congenital adrenogenital syndrome and virilizing adrenocortical tumor in prepuberal females. Problems of diagnosis and therapy in 2 cases of virilization]
Adrenal Hyperplasia, Congenital
[Connection between congenital adrenal hyperplasia due to 21-hydroxylase deficiency and the HLA genotype]
Adrenal Hyperplasia, Congenital
[Consensus statement on diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
Adrenal Hyperplasia, Congenital
[Contemporary diagnosis and therapy in women with congenital adrenal hyperplasia].
Adrenal Hyperplasia, Congenital
[Current concepts in the treatment of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[CYP21 gene point mutations study in 21-hydroxylase deficiency patients]
Adrenal Hyperplasia, Congenital
[Detection of heterozygosity in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the general population]
Adrenal Hyperplasia, Congenital
[Detection of heterozygotes in the classic type of congenital adrenal hyperplasia due to a 21-hydroxylase defect in our population as based on hormonal studies and HLA typing]
Adrenal Hyperplasia, Congenital
[Detection of steroid 21-hydroxylase gene variation among normal Chinese and patients with congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[Determination of serum steroids in monitoring therapy of congenital adrenal hyperplasia].
Adrenal Hyperplasia, Congenital
[Determination of urinary 17 alpha-hydroxyprogesterone excretion using ELISA--evaluation of normal subjects and patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Efficacy of letrozole in treatment of children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency].
Adrenal Hyperplasia, Congenital
[Electroencephalographic changes in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Evaluation of salivary 17-hydroxyprogesterone and its clinical usefulness in the study of hirsutism and the partial deficiency of 21-hydroxylase]
Adrenal Hyperplasia, Congenital
[Expression of the human steroid 21-hydroxylase gene and its mutant variant C169R in insect cells and functional analysis of expression products]
Adrenal Hyperplasia, Congenital
[Final height in 69 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
Adrenal Hyperplasia, Congenital
[Genetic aspects of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Genetic counseling and prenatal diagnosis of adrenal hyperplasia caused by 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Genetic screening and prenatal diagnosis in 18 high-risk families with 21-hydroxylase deficiency].
Adrenal Hyperplasia, Congenital
[Genetics of congenital adrenal hyperplasia caused by steroid-21-hydroxylase deficiency: present-day aspects]
Adrenal Hyperplasia, Congenital
[Giant bilateral adrenal myelolipoma associated with congenital adrenal hyperplasia.]
Adrenal Hyperplasia, Congenital
[Health status of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.]
Adrenal Hyperplasia, Congenital
[Hirsutism secondary to congenital adrenal hyperplasia caused by a 21-hydroxylase deficiency of late onset. A clinical case]
Adrenal Hyperplasia, Congenital
[HLA haplotypes in families of children with congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[Hormonal profile and HLA typing of adult subjects from 7 families with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone]
Adrenal Hyperplasia, Congenital
[Identification of point mutations in the 21-hydroxylase gene in patients affected with congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples].
Adrenal Hyperplasia, Congenital
[Linkage analysis between HLA and GLOI with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Linkage between congenital adrenal hyperplasia with 21-hydroxylase deficiency and HLA histocompatibility groups]
Adrenal Hyperplasia, Congenital
[Measurement of 17 OH progesterone in blood in Chilean newborns: antecedents for implementing a grogram for the neonatal detection of congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[Medroxyprogesterone acetate. Contributive treatment in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in children]
Adrenal Hyperplasia, Congenital
[Methods for the analysis of large gene deletions and their application in some hereditary diseases]
Adrenal Hyperplasia, Congenital
[Molecular analysis of the most frequent mutations associated with congenital adrenal hyperplasia secondary to 21-hydroxylase enzyme deficiency]
Adrenal Hyperplasia, Congenital
[Molecular diagnosis of salt wasting congenital adrenal hyperplasia, caused by deficit of 21-hydroxylase, in the Chilean population]
Adrenal Hyperplasia, Congenital
[Molecular genetics of 21-hydroxylase deficiency in congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family]
Adrenal Hyperplasia, Congenital
[Mutation in the promoter region of 21-hydroxylase gene of patients with congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[Mutational spectrum of the gene for 21-hydroxylase in the patients with congenital adrenal hyperplasia from Bashkortostan]
Adrenal Hyperplasia, Congenital
[Mutations in 21-hydroxylase gene caused by gene conversion-like events]
Adrenal Hyperplasia, Congenital
[Neonatal mass-screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. I. Microfilter paper methods for radioimmunoassay of 17 alpha-hydroxyprogesterone]
Adrenal Hyperplasia, Congenital
[Neonatal mass-screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. II. A pilot neonatal mass-screening study in the west of Shizuoka Prefecture, Japan]
Adrenal Hyperplasia, Congenital
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 1. Enzyme immunoassay of dried blood 17 alpha-hydroxyprogesterone and its application to neonatal screening for congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 2. Analysis of steroids with high-performance liquid chromatography for diagnosis of congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 3. An enzyme-linked immunosorbent assay for dried blood 17 alpha-hydroxyprogesterone]
Adrenal Hyperplasia, Congenital
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 4. Development of enzyme-linked immunosorbent assay for dried blood cortisol and its application to neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996]
Adrenal Hyperplasia, Congenital
[Newborn screening for congenital adrenal hyperplasia in France].
Adrenal Hyperplasia, Congenital
[Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia: Benefits and costs of a successful public health program].
Adrenal Hyperplasia, Congenital
[Nonclassic congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Pregnancy outcomes of eight pregnant women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
Adrenal Hyperplasia, Congenital
[Premature androgenetic alopecia in adult male with nonclassic 21-OH deficiency. A novel nonsense CYP21A2 mutation (Y336X) in 2 affected siblings]
Adrenal Hyperplasia, Congenital
[Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase enzyme deficiency]
Adrenal Hyperplasia, Congenital
[Prenatal diagnosis of congenital adrenal hyperplasia due to a 21-hydroxylase defect--determination of 17-hydroxyprogesterone in the amniotic fluid]
Adrenal Hyperplasia, Congenital
[Prenatal molecular genetic diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 9 treated pregnancies]
Adrenal Hyperplasia, Congenital
[Prevention of sexual ambiguity in children with 21-hydroxylase deficiency by treatment in utero]
Adrenal Hyperplasia, Congenital
[Problems posed by the association of hemophilia A and congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report].
Adrenal Hyperplasia, Congenital
[Rare forms of female pseudohermaphroditism: when to investigate?]
Adrenal Hyperplasia, Congenital
[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].
Adrenal Hyperplasia, Congenital
[Reevaluation of recalled infants by neonatal mass screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Diagnostic value of pregnanetriolone in a single urine specimen using glass capillary gas chromatography]
Adrenal Hyperplasia, Congenital
[Simple virilizing forms of congenital adrenal hyperplasia: adaptation and prospective validation of the molecular screening.]
Adrenal Hyperplasia, Congenital
[Steroid 21-hydroxylase deficiencies and female infertility: pathophysiology and management].
Adrenal Hyperplasia, Congenital
[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia].
Adrenal Hyperplasia, Congenital
[Strategies in screening of nonclassical forms of congenital adrenal hyperplasia caused by P450c21 deficiency in hyperandrogenic women]
Adrenal Hyperplasia, Congenital
[Surgical correction of genital virilization in girls with congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[The effect of maternal dexamethasone treatment after the 12th week of pregnancy on fetal genital development in adrenogenital syndrome with 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[The steroid content of the amniotic fluid in the 1st and 2nd pregnancy trimesters in 21-hydroxylase insufficiency and in fetal central nervous system defects]
Adrenal Hyperplasia, Congenital
[Treatment of adult men with congenital adrenal hyperplasia syndrome due to 21-hydroxylase deficiency]
Adrenal Hyperplasia, Congenital
[Value of the assay of plasma steroids in the control of congenital adrenal hyperplasia]
Adrenal Hyperplasia, Congenital
[Virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: early diagnosis and response to 2 treatment schedules]
Adrenal Hyperplasia, Congenital
[Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: Study of a new case.]
Adrenal Insufficiency
A case of silent 21-hydroxylase deficiency with persistent adrenal insufficiency after removal of an adrenal incidentaloma.
Adrenal Insufficiency
Adrenal insufficiency in a man with non-classical 21-hydroxylase deficiency: consequence or coincidence?
Adrenal Insufficiency
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report.
Adrenal Insufficiency
Autoimmune Addison's disease--evidence for a role of steroid 21-hydroxylase autoantibodies in adrenal insufficiency.
Adrenal Insufficiency
Autoimmunity in isolated Addison's disease and in polyglandular autoimmune diseases type 1, 2 and 4.
Adrenal Insufficiency
Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension.
Adrenal Insufficiency
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities.
Adrenal Insufficiency
Dehydroepiandrosterone, 17alpha-hydroxyprogesterone and aldosterone responses to the low-dose (1 micro g) ACTH test in subjects with preclinical adrenal autoimmunity.
Adrenal Insufficiency
Homozygosity of the Polymorphism MICA5.1 Identifies Extreme Risk of Progression to Overt Adrenal Insufficiency among 21-Hydroxylase Antibody-Positive Patients with Type 1 Diabetes.
Adrenal Insufficiency
Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Insufficiency
Late onset adrenal insufficiency after adrenalectomy due to latent nonclassical 21-hydroxylase deficiency: A case report.
Adrenal Insufficiency
Plasma 11beta-hydroxy-4-androstene-3,17-dione: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunoassay using a tritiated tracer.
Adrenal Insufficiency
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Adrenal Insufficiency
Primary adrenal lymphoma as a cause of adrenal insufficiency, a report of two cases.
Adrenal Insufficiency
Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency.
Adrenal Insufficiency
Screening for neonatal endocrinopathies: rationale, methods and results.
Adrenal Insufficiency
Shared Genetic Basis for Type 1 Diabetes, Islet Autoantibodies, and Autoantibodies Associated With Other Immune-Mediated Diseases in Families With Type 1 Diabetes.
Adrenal Insufficiency
[A case of bilateral testicular tumors with congenital adrenal hyperplasia]
Adrenal Insufficiency
[Assessment of autoantibodies against 21-hydroxylase in the diagnosis of primary autoimmune adrenal insufficiency].
Adrenal Rest Tumor
11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency.
Adrenal Rest Tumor
131I-noriodocholesterol uptake by testicular adrenal rest tumors in a patient with classical 21-hydroxylase deficiency.
Adrenal Rest Tumor
Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia.
Adrenal Rest Tumor
Abundance of DLK1, differential expression of CYP11B1, CYP21A2 and MC2R, and lack of INSL3 distinguish testicular adrenal rest tumours from Leydig cell tumours.
Adrenal Rest Tumor
Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.
Adrenal Rest Tumor
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs).
Adrenal Rest Tumor
Computed tomography findings of testicular adrenal rest tumors resulted from 21-hydroxylase deficiency.
Adrenal Rest Tumor
Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients.
Adrenal Rest Tumor
Extensive Bilateral Adrenal Rest Testicular Tumors in a Patient With 3?-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
Adrenal Rest Tumor
Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment.
Adrenal Rest Tumor
High frequency of Adrenal Myelolipomas and Testicular Adrenal Rest Tumours in adult Norwegian Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Adrenal Rest Tumor
Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours.
Adrenal Rest Tumor
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.
Adrenal Rest Tumor
Origin of an ovarian steroid cell tumor causing isosexual pseudoprecocious puberty demonstrated by the expression of adrenal steroidogenic enzymes and adrenocorticotropin receptor.
Adrenal Rest Tumor
Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenal Rest Tumor
Production of 11-oxygenated androgens by testicular adrenal rest tumors.
Adrenal Rest Tumor
Sexual well-being in adult male patients with congenital adrenal hyperplasia.
Adrenal Rest Tumor
Testicular Adrenal Rest Tumor In Brothers With Novel Mutation In 3-Beta Hydroxysteroid Dehydrogenase -2 Gene.
Adrenal Rest Tumor
Testicular adrenal rest tumors develop independently of long-term disease control: A longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency.
Adrenal Rest Tumor
Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up.
Adrenal Rest Tumor
Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
Adrenal Rest Tumor
The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Adrenal Rest Tumor
Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency.
Adrenal Rest Tumor
[A case report: reversible male infertility due to congenital adrenal hyperplasia]
Adrenal Rest Tumor
[Characterization of ovarian adrenal rest tumors in children and adolescent females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
Adrenal Rest Tumor
[Clinical characteristics of testicular adrenal rest tumor and factors associated with its occurrence in 21-hydroxylase deficiency patients].
Adrenocortical Adenoma
A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma.
Adrenocortical Adenoma
Decreased levels of steroid 21-hydroxylase [P450(c21)] and its mRNA in an adrenocortical adenoma associated with 21-hydroxylase deficiency.
Adrenocortical Adenoma
Disordered expression of adrenal steroidogenic P450 mRNAs in incidentally discovered nonfunctioning adrenal adenoma.
Adrenocortical Adenoma
Expression of cytochrome P-450 mRNAs in steroidogenesis of adrenocortical adenomas from patients with primary aldosteronism.
Adrenocortical Adenoma
Massive adrenocortical adenoma following long-term treatment of 21-hydroxylase deficiency.
Adrenocortical Adenoma
The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience.
Adrenocortical Adenoma
[A case of virilizing adrenal cortical adenoma whose steroid profile evokes a partial 21-hydroxylase deficiency (author's transl)]
Adrenocortical Carcinoma
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.
Adrenocortical Carcinoma
A feminizing adrenocortical carcinoma in the context of a late onset 21-hydroxylase deficiency.
Adrenocortical Carcinoma
Effects of 3-MeSO2-DDE and some CYP inhibitors on glucocorticoid steroidogenesis in the H295R human adrenocortical carcinoma cell line.
Adrenocortical Carcinoma
Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma.
Adrenocortical Carcinoma
The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience.
Adrenogenital Syndrome
Abnormal steroid excretion in gestational trophoblastic disease complicated by ovarian theca-lutein cysts.
Adrenogenital Syndrome
Bilateral adrenal myelolipoma associated with adrenogenital syndrome.
Adrenogenital Syndrome
Clinical impact of molecular diagnostics in endocrinology. Polymorphisms, mutations and DNA technologies.
Adrenogenital Syndrome
Prenatal diagnosis and treatment of adrenogenital syndrome (steroid 21-hydroxylase deficiency).
Adrenogenital Syndrome
Steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fraction of functioning adrenocortical tumors.
Adrenogenital Syndrome
[Chronic suicidality in depression due to untreated adrenogenital syndrome.]
Adrenogenital Syndrome
[Congenital adrenogenital syndrome due to 21-hydroxylase deficiency. Pathogenesis, clinical picture, and deliberations over better therapy]
Adrenogenital Syndrome
[Congenital adrenogenital syndrome with unusually light 21-hydroxylase deficiency]
Adrenogenital Syndrome
[Congenital virilization in a newborn girl of a mother with adrenogenital syndrome due to 21-hydroxylase deficiency]
Adrenogenital Syndrome
[Diagnosis and course control of the adrenogenital syndrome of the 21-hydroxylase deficiency type using radioimmunologic demonstration of 17-alpha-hydroxyprogesterone]
Adrenogenital Syndrome
[Experiences with specific screening for early detection of congenital adrenogenital syndrome with 21-hydroxylase defect]
Adrenogenital Syndrome
[HL-A associated inheritance of the 21-hydroxylase defect in familial adrenogenital syndrome]
Adrenogenital Syndrome
[Image diagnosis of adrenal disorders. III. "Nonfunctioning" adrenal adenoma, weak mineralocorticoids producing adrenal carcinoma, congenital adrenogenital syndrome due to 21-hydroxylase deficiency--simple virilizing form, and pheochromocytoma]
Adrenogenital Syndrome
[Neonatal levels of 17-hydroxyprogesterone--early diagnosis of adrenogenital syndrome]
Adrenogenital Syndrome
[Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency. Position of the Pediatric Endocrinology Study Group of the German Society of Pediatrics and the Section of Pediatric Endocrinology of the German Society of Endocrinology]
Adrenogenital Syndrome
[Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency]
Adrenogenital Syndrome
[Problems of delayed diagnosis of an uncomplicated adrenogenital syndrome (AGS) with 21-hydroxylase defect in a 7-year-old boy]
Adrenogenital Syndrome
[The effect of maternal dexamethasone treatment after the 12th week of pregnancy on fetal genital development in adrenogenital syndrome with 21-hydroxylase deficiency]
Adrenogenital Syndrome
[Therapeutic problems in the adrenogenital syndrome caused by salt-losing 21-hydroxylase deficiency. Appearance of signs of corticoid overdosage at normally used doses]
Adrenogenital Syndrome
[Turner syndrome caused by deletion of the long arm of the X chromosome associated with adrenogenital syndrome caused by partial deficiency of 21-hydroxylase]
Adrenoleukodystrophy
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Alkaptonuria
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
Alopecia
Non-Classic Adrenal Hyperplasia due to the Deficiency of 21-Hydroxylase and Its Relation to Polycystic Ovarian Syndrome.
Alopecia
Study of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA-A*33:01; B*14:02; C*08:02 as a genetic marker.
Alopecia
[Premature androgenetic alopecia in adult male with nonclassic 21-OH deficiency. A novel nonsense CYP21A2 mutation (Y336X) in 2 affected siblings]
Alzheimer Disease
Association of CYP2D microsatellite polymorphism with Lewy body variant of Alzheimer's disease.
Androgen-Insensitivity Syndrome
A Cross-Section Study of the Ontogeny of Gender Roles in Women with DSD.
Androgen-Insensitivity Syndrome
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
Androgen-Insensitivity Syndrome
Disorders of sex development and female reproductive capacity: A literature review.
Androgen-Insensitivity Syndrome
Isolated transient neonatal clitoromegaly with hyperandrogenism of unknown etiology.
Androgen-Insensitivity Syndrome
Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.
Anovulation
Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia.
Anovulation
The ratio of androstenedione:11 beta-hydroxyandrostenedione is an important marker of adrenal androgen excess in women.
Antley-Bixler Syndrome Phenotype
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase.
Antley-Bixler Syndrome Phenotype
Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.
Antley-Bixler Syndrome Phenotype
Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development.
Antley-Bixler Syndrome Phenotype
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.
Antley-Bixler Syndrome Phenotype
Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension.
Antley-Bixler Syndrome Phenotype
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.
Antley-Bixler Syndrome Phenotype
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.
Antley-Bixler Syndrome Phenotype
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.
Antley-Bixler Syndrome Phenotype
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma.
Antley-Bixler Syndrome Phenotype
Two-Step Biochemical Differential Diagnosis of Classic 21-Hydroxylase Deficiency and Cytochrome P450 Oxidoreductase Deficiency in Japanese Infants by GC-MS Measurement of Urinary Pregnanetriolone/ Tetrahydroxycortisone Ratio and 11?-Hydroxyandrosterone.
aromatase deficiency
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.
aromatase deficiency
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.
aromatase deficiency
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.
aromatase deficiency
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Asthma
Alternate day prednisone therapy in congenital adrenal hyperplasia: adrenal androgen suppression and normal growth.
Atherosclerosis
A Favorable Metabolic and Antiatherogenic Profile in Carriers of CYP21A2 Gene Mutations Supports the Theory of a Survival Advantage in This Population.
Atherosclerosis
Assessment of early atherosclerosis and left ventricular dysfunction in children with 21-hydroxylase deficiency.
Autoimmune Diseases
21-hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Belgian Diabetes Registry.
Autoimmune Diseases
A conformation-dependent epitope in Addison's disease and other endocrinological autoimmune diseases maps to a carboxyl-terminal functional domain of human steroid 21-hydroxylase.
Autoimmune Diseases
Clinical and Immunological Characteristics of Autoimmune Addison Disease: A Nationwide Swedish Multicenter Study.
Autoimmune Diseases
Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis.
Autoimmune Diseases
Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Autoimmune Diseases
I. Adrenal cortex and steroid 21-hydroxylase autoantibodies in adult patients with organ-specific autoimmune diseases: markers of low progression to clinical Addison's disease.
Autoimmune Diseases
II. Adrenal cortex and steroid 21-hydroxylase autoantibodies in children with organ-specific autoimmune diseases: markers of high progression to clinical Addison's disease.
Autoimmune Diseases
Prevalence of adrenal antibodies in Addison's disease among north Indian Caucasians.
Azoospermia
Successful treatment with ICSI of infertility caused by azoospermia associated with adrenal rests in the testes: case report.
Azoospermia
Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review.
Azoospermia
[A case report: reversible male infertility due to congenital adrenal hyperplasia]
Babesiosis
Repression of Hepatic Cytochrome P450 2D Expression in Mice during Babesia microti Infection.
Bartter Syndrome
A hitherto unreported case of 21-hydroxylase deficiency associated with Bartter's syndrome and a balanced 6-9 translocation.
Bartter Syndrome
[A case of 21-hydroxylase deficiency and Bartter's syndrome associated with a balanced 6-9 translocation]
Blindness
Congenital adrenal hyperplasia and multiple sclerosis: is there an increased risk of multiple sclerosis in individuals with congenital adrenal hyperplasia?
Bone Diseases, Metabolic
Effects of adrenal steroids on the bone metabolism of children with congenital adrenal hyperplasia.
Brain Diseases
Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight.
Breast Neoplasms
Chlormadinone acetate as a possible effective agent for congenital adrenal hyperplasia to suppress elevated ACTH and antagonize masculinization.
Breast Neoplasms
The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Carcinogenesis
A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma.
Carcinogenesis
Metabolism of glucocorticoids and mineralocorticoids in patients with adrenal incidentalomas.
Carcinogenesis
The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience.
Carcinogenesis
[Molecular biology of incidentally diagnosed adrenal gland space-occupying lesion]
Carcinoma
A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia.
Carcinoma
An 88-year-old woman diagnosed with adrenal tumor and congenital adrenal hyperplasia: connection or coincidence?
Carcinoma
Chlormadinone acetate as a possible effective agent for congenital adrenal hyperplasia to suppress elevated ACTH and antagonize masculinization.
Carcinoma
Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women.
Carcinoma
Steroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors.
Carcinoma
[Image diagnosis of adrenal disorders. III. "Nonfunctioning" adrenal adenoma, weak mineralocorticoids producing adrenal carcinoma, congenital adrenogenital syndrome due to 21-hydroxylase deficiency--simple virilizing form, and pheochromocytoma]
Cardiovascular Diseases
Cardiovascular disease risk in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cardiovascular Diseases
Carotid Intima-Media Thickness Is Associated with Increased Androgens in Adolescents and Young Adults with Classical Congenital Adrenal Hyperplasia.
Catalepsy
Rat brain CYP2D enzymatic metabolism alters acute and chronic haloperidol side-effects by different mechanisms.
Celiac Disease
Autoantibody "subspecificity" in type 1 diabetes: risk for organ-specific autoimmunity clusters in distinct groups.
Celiac Disease
Shared Genetic Basis for Type 1 Diabetes, Islet Autoantibodies, and Autoantibodies Associated With Other Immune-Mediated Diseases in Families With Type 1 Diabetes.
Chagas Disease
21-Hydroxylase gene mutant allele CYP21A2(?)15 strongly linked to the resistant HLA haplotype B(?)14:02-DRB1(?)01:02 in chronic Chagas disease.
CHARGE Syndrome
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
Cholera
Expression of 11 beta-hydroxylase and 21-hydroxylase in long-term cultures of bovine adrenocortical cells requires extracellular matrix factors.
Cholera
Interaction of phorbol ester and adrenocorticotropin in the regulation of steroidogenic P450 genes in human fetal and adult adrenal cell cultures.
Cholera
The response of 21-hydroxylase messenger ribonucleic acid levels to adenosine 3',5'-monophosphate and 12-O-tetradecanoylphorbol-13-acetate in bovine adrenocortical cells is dependent on culture conditions.
Common Variable Immunodeficiency
Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes.
Confusion
Assessment of the one hour adrenocorticotrophic hormone test in the diagnosis of attenuated 21-hydroxylase deficiency.
Congenital Hypothyroidism
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age.
Congenital Hypothyroidism
Low Adrenomedullary Function Predicts Acute Illness in Infants with Classical Congenital Adrenal Hyperplasia.
Congenital Hypothyroidism
[Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia: Benefits and costs of a successful public health program].
Cryptorchidism
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
Cushing Syndrome
Clinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylase.
Cushing Syndrome
Coexistence of 21-hydroxylase and 11 beta-hydroxylase deficiency in adrenal incidentalomas and in subclinical Cushing's syndrome.
Cushing Syndrome
Excretion pattern of 3 beta-hydroxysteroids in patients with adrenal tumor, Cushing's disease and 21-hydroxylase deficiency, and in pregnancy, using thin-layer chromatography and color development of 3 beta-hydroxysteroids with 3 beta-hydroxysteroid oxidase.
Cushing Syndrome
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels.
Cushing Syndrome
Plasma 11beta-hydroxy-4-androstene-3,17-dione: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunoassay using a tritiated tracer.
Cushing Syndrome
Prevalence of endocrine diseases and abnormal glucose tolerance tests in 340 Caucasian premenopausal women with hirsutism as the referral diagnosis.
Cushing Syndrome
Significance of steroidogenic enzymes in the pathogenesis of hyperfunctioning and non-hyperfunctioning adrenal tumor.
Cushing Syndrome
Steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fraction of functioning adrenocortical tumors.
Cushing Syndrome
The constant plasma 18-hydroxycorticosterone to aldosterone ratio: an expression of the efficacy of corticosterone methyloxidase type II activity in disorders with variable aldosterone production.
Cystic Fibrosis
Screening Human Genes for Small Alterations Performing an Enzymatic Cleavage Mismatched Analysis (ECMA) Protocol.
Cystic Fibrosis
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
Cystinosis
Urinary excretion of aldosterone metabolite Kelly-M1 in patients with adrenal dysfunction.
Deafness
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Dehydration
Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B.
Dehydration
[Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996]
Dermatitis, Seborrheic
Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia.
Diabetes Mellitus
21-hydroxylase autoantibody-negative Addison's disease in a 5-year-old boy with adrenal crisis and type 1 diabetes mellitus.
Diabetes Mellitus
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
Diabetes Mellitus
Endocrine and immunogenetic testing in individuals with type 1 diabetes and 21-hydroxylase autoantibodies: Addison's disease in a high-risk population.
Diabetes Mellitus
First proof of association between autoimmune polyglandular syndrome and multiple endocrine neoplasia in humans.
Diabetes Mellitus
Genetic determinants of 21-hydroxylase autoantibodies amongst patients of the type 1 diabetes genetics consortium.
Diabetes Mellitus, Type 1
21-hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Belgian Diabetes Registry.
Diabetes Mellitus, Type 1
21-hydroxylase autoantibody-negative Addison's disease in a 5-year-old boy with adrenal crisis and type 1 diabetes mellitus.
Diabetes Mellitus, Type 1
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
Diabetes Mellitus, Type 1
Autoantibodies against glutamic acid decarboxylase and 21-hydroxylase in Brazilian patients with type 1 diabetes or autoimmune thyroid diseases.
Diabetes Mellitus, Type 1
Complement genes of the major histocompatibility complex (complotypes), extended haplotypes and disease markers.
Diabetes Mellitus, Type 1
DRB1*04 and DQ alleles: expression of 21-hydroxylase autoantibodies and risk of progression to Addison's disease.
Diabetes Mellitus, Type 1
Endocrine and immunogenetic testing in individuals with type 1 diabetes and 21-hydroxylase autoantibodies: Addison's disease in a high-risk population.
Diabetes Mellitus, Type 1
GADA Titer-Related Risk for Organ-Specific Autoimmunity in LADA Subjects Subdivided according to Gender (NIRAD Study 6).
Diabetes Mellitus, Type 1
Genetic determinants of 21-hydroxylase autoantibodies amongst patients of the type 1 diabetes genetics consortium.
Diabetes Mellitus, Type 1
Homozygosity of the Polymorphism MICA5.1 Identifies Extreme Risk of Progression to Overt Adrenal Insufficiency among 21-Hydroxylase Antibody-Positive Patients with Type 1 Diabetes.
Diabetes Mellitus, Type 1
Steroid 21-hydroxylase autoantibodies in insulin-dependent diabetes mellitus. Childhood Diabetes in Finland (DiMe) Study Group.
Diabetes Mellitus, Type 2
Changes in CYP2D enzyme activity following induction of type 2 diabetes, and administration of cinnamon and metformin: an experimental animal study.
Diabetes Mellitus, Type 2
GADA Titer-Related Risk for Organ-Specific Autoimmunity in LADA Subjects Subdivided according to Gender (NIRAD Study 6).
Diabetes Mellitus, Type 2
Islet autoantibodies in Latvian subjects with non-insulin-dependent diabetes mellitus: slow-onset type 1 diabetes or polyendocrine autoimmunity?
Disorders of Sex Development
Adrenal insufficiency in a man with non-classical 21-hydroxylase deficiency: consequence or coincidence?
Disorders of Sex Development
Ambiguous genitalia due to partial activity of cytochromes P450c17 and P450c21.
Disorders of Sex Development
An SNP-Based Linkage Map for Zebrafish Reveals Sex Determination Loci.
Disorders of Sex Development
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A five-year retrospective study in the Children's Hospital of Damascus, Syria.
Disorders of Sex Development
Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency.
Disorders of Sex Development
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Disorders of Sex Development
Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy.
Disorders of Sex Development
Congenital adrenal hyperplasia: surgical considerations required to repair a 46,XX patient raised as a boy.
Disorders of Sex Development
Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
Disorders of Sex Development
Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study.
Disorders of Sex Development
Different states of clinical control are associated with changes in IGF-I and IGFBPs in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Disorders of Sex Development
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.
Disorders of Sex Development
Disorders of sex development and female reproductive capacity: A literature review.
Disorders of Sex Development
Female pseudohermaphroditism and inefficient peak bone mass in an untreated subject affected by 21-hydroxylase congenital adrenal hyperplasia.
Disorders of Sex Development
Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.
Disorders of Sex Development
First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).
Disorders of Sex Development
Genital surgery among females with congenital adrenal hyperplasia: changes over the past five decades.
Disorders of Sex Development
Hormonal therapies for individuals with intersex conditions: protocol for use.
Disorders of Sex Development
Increased first-trimester nuchal translucency as a prenatal manifestation of salt-wasting congenital adrenal hyperplasia.
Disorders of Sex Development
Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Disorders of Sex Development
Prenatal and early postnatal treatment of congenital adrenal hyperplasia.
Disorders of Sex Development
Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Disorders of Sex Development
Prenatal diagnosis and treatment of congenital adrenal hyperplasia.
Disorders of Sex Development
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Disorders of Sex Development
Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification.
Disorders of Sex Development
Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Disorders of Sex Development
The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
Dyslipidemias
[Prevalence and related factors of dyslipidemia in patients with 21-hydroxylase deficiency].
Ehlers-Danlos Syndrome
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions.
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.
Ehlers-Danlos Syndrome
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
Ehlers-Danlos Syndrome
Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
Ehlers-Danlos Syndrome
The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
Ehlers-Danlos Syndrome
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.
Endocrine System Diseases
Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Endocrine System Diseases
MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.
Endocrine System Diseases
MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency.
Endocrine System Diseases
[Congenital adrenal hyperplasia and growth hormone deficiency. Special care in transition to adulthood]
Endometrial Hyperplasia
Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman.
Epilepsy
Messenger RNA of steroid 21-hydroxylase (CYP21) is expressed in the human hippocampus.
Erectile Dysfunction
Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.
Essential Hypertension
Urinary excretion of aldosterone metabolite Kelly-M1 in patients with adrenal dysfunction.
exo-alpha-sialidase deficiency
The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene.
Fabry Disease
Screening Human Genes for Small Alterations Performing an Enzymatic Cleavage Mismatched Analysis (ECMA) Protocol.
Fabry Disease
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
Fatty Liver
Effects of Orotic Acid-Induced Non-Alcoholic Fatty Liver on the Pharmacokinetics of Metoprolol and its Metabolites in Rats.
Fetal Growth Retardation
Disorders of sex development and female reproductive capacity: A literature review.
Galactorrhea
Transvaginal ultrasound detection of multifollicular ovaries in non-hirsute ovulatory women.
Gastritis
Shared Genetic Basis for Type 1 Diabetes, Islet Autoantibodies, and Autoantibodies Associated With Other Immune-Mediated Diseases in Families With Type 1 Diabetes.
Genetic Diseases, Inborn
"Acquired" adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorders as congenital adrenal hyperplasia.
Genetic Diseases, Inborn
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
Genetic Diseases, Inborn
A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Genetic Diseases, Inborn
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
Genetic Diseases, Inborn
Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene.
Genetic Diseases, Inborn
Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.
Genetic Diseases, Inborn
Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.
Genetic Diseases, Inborn
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.
Genetic Diseases, Inborn
Congenital adrenal hyperplasia because of 21-hydroxylase deficiency. A genetic disorder of interest to obstetricians and gynecologists.
Genetic Diseases, Inborn
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults.
Genetic Diseases, Inborn
Difference in transcriptional activity of two homologous CYP21A genes.
Genetic Diseases, Inborn
Expression of human 21-hydroxylase (P450c21) in bacterial and mammalian cells: a system to characterize normal and mutant enzymes.
Genetic Diseases, Inborn
Extensive clinical experience: nonclassical 21-hydroxylase deficiency.
Genetic Diseases, Inborn
Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.
Genetic Diseases, Inborn
Interaction between accumulated 21-deoxysteroids and mineralocorticoid signaling in 21-hydroxylase deficiency.
Genetic Diseases, Inborn
Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family.
Genetic Diseases, Inborn
Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.
Genetic Diseases, Inborn
Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
Genetic Diseases, Inborn
Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia.
Genetic Diseases, Inborn
Structure and expression of the CYP21 (P450c21, steroid 21-hydroxylase) gene with respect to its deficiency.
Genetic Diseases, Inborn
The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.
Genetic Diseases, Inborn
Treatment and health outcomes in adults with congenital adrenal hyperplasia.
Genetic Diseases, Inborn
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--management in adults].
Genetic Diseases, Inborn
[Simple virilizing forms of congenital adrenal hyperplasia: adaptation and prospective validation of the molecular screening.]
Genetic Diseases, Inborn
[Steroid 21-hydroxylase deficiencies and female infertility: pathophysiology and management].
Genetic Diseases, Inborn
[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia].
Germinoma
CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty.
Glomerulonephritis, IGA
Genetic study on HLA class II and class III region in the disease associated with IgA nephropathy.
Glucose Intolerance
Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency.
Gonadal Dysgenesis
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.
Gonadal Dysgenesis
Disorders of sex development and female reproductive capacity: A literature review.
Gonadal Dysgenesis, Mixed
Disorders of sex development and female reproductive capacity: A literature review.
Gonadal Dysgenesis, Mixed
Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.
Gonadal Dysgenesis, Mixed
[Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency]
Graves Disease
21-hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Belgian Diabetes Registry.
Graves Disease
Autoantibodies against glutamic acid decarboxylase and 21-hydroxylase in Brazilian patients with type 1 diabetes or autoimmune thyroid diseases.
Gynecomastia
"Masked" 21-hydroxylase deficiency of the adrenal presenting with gynecomastia and bilateral testicular masses.
Gynecomastia
Androstenedione aromatization as a cause of gynecomastia in 11beta-hydroxylase and 21-hydroxylase deficiencies.
Gynecomastia
Non-classical 21-hydroxylase deficiency in boys with prepubertal or pubertal gynecomastia.
Hearing Loss
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Heart Failure
Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.
Heart Failure
Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency.
Hemophilia A
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
Hemophilia A
[Problems posed by the association of hemophilia A and congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
Hepatitis, Autoimmune
Polymorphism in the human complement C4 genes and genetic susceptibility to autoimmune hepatitis.
Herpes Zoster
A case of aldosterone-producing adenoma with severe postoperative hyperkalemia.
Herpes Zoster
Adrenocortical-specific transgene expression directed by steroid hydroxylase gene promoters.
Herpes Zoster
Effects of age and adrenocorticotropin on microsomal enzymes in guinea pig adrenal inner and outer cortices.
Herpes Zoster
Effects of continued adrenocorticotropin stimulation on the mineralocorticoid hormones in classical and nonclassical simple virilizing types of 21-hydroxylase deficiency.
Herpes Zoster
In vitro conversion of cholesterol into aldosterone and cortisol in different zones of the bovine adrenal cortex.
Herpes Zoster
Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect?
Herpes Zoster
Light and electron microscopic immunohistochemistry of the localization of adrenal steroidogenic enzymes.
Herpes Zoster
Metabolism of glucocorticoids and mineralocorticoids in patients with adrenal incidentalomas.
Herpes Zoster
Protein kinase A, protein kinase C, and Ca(2+)-regulated expression of 21-hydroxylase cytochrome P450 in H295R human adrenocortical cells.
Herpes Zoster
Radioimmunoassay of urinary 21-deoxytetrahydroaldosterone in primary aldosteronism and 21-hydroxylase deficiency.
Herpes Zoster
Testosterone-secreting virilizing adrenal adenoma with human chorionic gonadotrophin receptors and 21-hydroxylase deficiency.
Herpes Zoster
The 21-hydroxylase activity in the glomerulosa and fasciculata of the adrenal cortex in congenital adrenal hyperplasia.
Herpes Zoster
Transcriptional activation of adrenocortical steroidogenic genes by high potassium or low sodium intake.
Herpes Zoster
Unique cases of unilateral hyperaldosteronemia due to multiple adrenocortical micronodules, which can only be detected by selective adrenal venous sampling.
Herpes Zoster
Zona fasciculata 21-hydroxysteroids and precursor-to-product ratios in 21-hydroxylase deficiency: further characterization of classic and nonclassic patients and heterozygote carriers.
Hirsutism
A case of patient affected by hirsutism carrying the P482S CYP21 gene mutation associated with loss of heterozygosity (LOH).
Hirsutism
A Liquid Chromatography/Tandem Mass Spectometry Profile of 16 Serum Steroids, Including 21-Deoxycortisol and 21-Deoxycorticosterone, for Management of Congenital Adrenal Hyperplasia.
Hirsutism
A woman with too much facial hair. Evaluating the possibility of attenuated 21-hydroxylase deficiency in hirsutism.
Hirsutism
ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism.
Hirsutism
Androstanediolglucuronide: a parameter for peripheral androgen activity before and during therapy with cyproterone acetate.
Hirsutism
Assessment of the one hour adrenocorticotrophic hormone test in the diagnosis of attenuated 21-hydroxylase deficiency.
Hirsutism
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.
Hirsutism
Cyproterone acetate-ethinyl estradiol treatment alters urinary 6-sulfatoxymelatonin excretion in hyperandrogenic women.
Hirsutism
Development of plasma 21-deoxycortisol radioimmunoassay and application to the diagnosis of patients with 21-hydroxylase deficiency.
Hirsutism
High prevalence of polycystic ovary syndrome in women with mild hirsutism and no other significant clinical symptoms.
Hirsutism
High serum progesterone associated with infertility in a woman with nonclassic congenital adrenal hyperplasia.
Hirsutism
Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia.
Hirsutism
Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia.
Hirsutism
Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?
Hirsutism
Late onset adrenal hyperplasia due to 3 beta-hydroxy-delta 5-steroid dehydrogenase deficiency in north Indian hirsute women.
Hirsutism
Late onset adrenal hyperplasia in a group of Irish females who presented with hirsutism, irregular menses and/or cystic acne.
Hirsutism
Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease.
Hirsutism
Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women.
Hirsutism
Non polycystic ovary syndrome-related endocrine disorders associated with hirsutism.
Hirsutism
Non-Classic Adrenal Hyperplasia due to the Deficiency of 21-Hydroxylase and Its Relation to Polycystic Ovarian Syndrome.
Hirsutism
Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.
Hirsutism
Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.
Hirsutism
Steroid hormones in the adrenal venous effluents in idiopathic hirsutism under basal and stimulated conditions.
Hirsutism
Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism.
Hirsutism
The endocrine pattern of late onset adrenal hyperplasia (21-hydroxylase deficiency).
Hirsutism
The incidence of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency among hirsute women.
Hirsutism
The incidence of non-classical 21-hydroxylase deficiency in hirsute adolescent girls.
Hirsutism
The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations.
Hirsutism
The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both.
Hirsutism
The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome.
Hirsutism
The prevalence, molecular analysis and HLA typing of late-onset 21-hydroxylase deficiency in Turkish woman with hirsutism and polycystic ovary.
Hirsutism
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Hirsutism
Urinary 6-sulfatoxymelatonin excretion in hyperandrogenic women: the effect of cyproterone acetate-ethinyl estradiol treatment.
Hirsutism
[21-Hydroxylase deficiency. Clinical expression of heterozygote carriers in a family]
Hirsutism
[3 beta-hydroxysteroid dehydrogenase deficiency and 21-hydroxylase deficiency in hirsutism]
Hirsutism
[Evaluation of salivary 17-hydroxyprogesterone and its clinical usefulness in the study of hirsutism and the partial deficiency of 21-hydroxylase]
Hirsutism
[Hirsutism in Chilean women: importance of 21-hydroxylase congenital deficiency of late onset]
Hirsutism
[Hirsutism secondary to congenital adrenal hyperplasia caused by a 21-hydroxylase deficiency of late onset. A clinical case]
Hyperaldosteronism
21-Deoxyaldosterone excretion in patients with primary aldosteronism and 21-hydroxylase deficiency.
Hyperaldosteronism
Expression of cytochrome P-450 mRNAs in steroidogenesis of adrenocortical adenomas from patients with primary aldosteronism.
Hyperaldosteronism
Radioimmunoassay of three deoxycorticoids in human plasma following HPLC separation.
Hyperaldosteronism
Radioimmunoassay of urinary 21-deoxytetrahydroaldosterone in primary aldosteronism and 21-hydroxylase deficiency.
Hyperaldosteronism
Steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fraction of functioning adrenocortical tumors.
Hyperaldosteronism
Urinary excretion of aldosterone metabolite Kelly-M1 in patients with adrenal dysfunction.
Hyperandrogenism
21-Hydroxylase deficiency in female hyperandrogenism: screening and diagnosis.
Hyperandrogenism
A Diagnosis Not to Be Missed: Nonclassic Steroid 11?-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism.
Hyperandrogenism
A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain.
Hyperandrogenism
Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiency.
Hyperandrogenism
Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.
Hyperandrogenism
Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.
Hyperandrogenism
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.
Hyperandrogenism
Detection and management of late-onset 21-hydroxylase deficiency in women with hyperandrogenism.
Hyperandrogenism
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma.
Hyperandrogenism
Flutamide decreases cortisol clearance in patients with congenital adrenal hyperplasia.
Hyperandrogenism
Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.
Hyperandrogenism
Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency.
Hyperandrogenism
Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.
Hyperandrogenism
Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency.
Hyperandrogenism
Late onset adrenal hyperplasia in a group of Irish females who presented with hirsutism, irregular menses and/or cystic acne.
Hyperandrogenism
Late onset adrenocortical hydroxylase deficiencies associated with menstrual dysfunction.
Hyperandrogenism
Long-term Follow up of Congenital Adrenal Hyperplasia Patients with Hyponatremia.
Hyperandrogenism
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.
Hyperandrogenism
Metabolic syndrome manifestations in classic congenital adrenal hyperplasia: do they predispose to atherosclerotic cardiovascular disease and secondary polycystic ovary syndrome?
Hyperandrogenism
Monogenic and polygenic models detected in steroid 21-hydroxylase deficiency-related paediatric hyperandrogenism.
Hyperandrogenism
Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women.
Hyperandrogenism
Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Hyperandrogenism
Plasma 11beta-hydroxy-4-androstene-3,17-dione: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunoassay using a tritiated tracer.
Hyperandrogenism
Premature pubarche in Mediterranean girls: high prevalence of heterozygous CYP21 mutation carriers.
Hyperandrogenism
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Hyperandrogenism
Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Hyperandrogenism
Serum leptin levels in patients with 21-hydroxylase deficiency before and after treatment.
Hyperandrogenism
Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism.
Hyperandrogenism
Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency.
Hyperandrogenism
The Frequency of CYP 21 Gene Mutations in Turkish Women with Hyperandrogenism.
Hyperandrogenism
The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations.
Hyperandrogenism
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism.
Hyperandrogenism
The risk of functional ovarian hyperandrogenism and polycystic ovary syndrome in patients with hyperandrogenism.
Hyperandrogenism
Treatment with flutamide decreases cortisol clearance: implications for therapy in congenital adrenal hyperplasia.
Hyperandrogenism
Use of PET/CT with Cosyntropin Stimulation to Identify and Localize Adrenal Rest Tissue following Adrenalectomy in a Woman with Congenital Adrenal Hyperplasia.
Hyperandrogenism
Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.
Hyperandrogenism
[Diagnostic strategy in infertility due to hyperandrogenism. Development of a decision tree]
Hyperandrogenism
[Premature androgenetic alopecia in adult male with nonclassic 21-OH deficiency. A novel nonsense CYP21A2 mutation (Y336X) in 2 affected siblings]
Hyperandrogenism
[Steroid 21-hydroxylase deficiencies and female infertility: pathophysiology and management].
Hyperandrogenism
[Unique steroid 21-hydroxylase gene CYP21A2 polymorphism in patients with hyperandrogenism signs].
Hyperhomocysteinemia
Plasma homocysteine levels in polycystic ovary syndrome and congenital adrenal hyperplasia.
Hyperinsulinism
Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia.
Hyperinsulinism
Insulin resistance in congenital adrenal hyperplasia is compensated for by reduced insulin clearance.
Hyperkalemia
[21-hydroxylase deficit revealed by hyperkalemia in the absence of renal failure in an insulin-dependent diabetic (author's transl)]
Hyperprolactinemia
A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain.
Hyperprolactinemia
Implications of ultrasonically diagnosed polycystic ovaries. I. Correlations with basal hormonal profiles.
Hyperprolactinemia
The prevalence of hyperandrogenism in 109 consecutive female patients with diffuse alopecia.
Hypersensitivity
Pharmacokinetics and Differential Regulation of Cytochrome P450 Enzymes in Type 1 Allergic Mice.
Hypertension
A Greek girl with 11?-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene.
Hypertension
Carotid Intima-Media Thickness Is Associated with Increased Androgens in Adolescents and Young Adults with Classical Congenital Adrenal Hyperplasia.
Hypertension
Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension.
Hypertension
Early hypertension and prolonged mineralocorticoid therapy discontinuation in a child with salt-wasting 21-hydroxylase deficiency.
Hypertension
Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects.
Hypertension
Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy.
Hypertension
Observation of hypertension in children with 21-hydroxylase deficiency: a preliminary report.
Hypertension
Structure-Based Design of Inhibitors with Improved Selectivity for Steroidogenic Cytochrome P450 17A1 over Cytochrome P450 21A2.
Hypertension, Renal
Urinary excretion of aldosterone metabolite Kelly-M1 in patients with adrenal dysfunction.
Hyperthyroidism
Development of Graves' hyperthyroidism caused an adrenal crisis in a patient with previously unrecognized non-classical 21-hydroxylase deficiency.
Hypertrichosis
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
Hypertrichosis
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Hypoadrenocorticism, Familial
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.
Hypoadrenocorticism, Familial
Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita.
Hypoaldosteronism
Linkage and segregation analysis of HLA and congenital hypoaldosteronism due to corticosterone methyl-oxydase deficiency type I and type II.
Hypoaldosteronism
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Hypoaldosteronism
[21-hydroxylase deficit revealed by hyperkalemia in the absence of renal failure in an insulin-dependent diabetic (author's transl)]
Hypoglycemia
Cortisol and aldosterone responses to hypoglycemia and Na depletion in women with non-classic 21-hydroxylase deficiency.
Hypoglycemia
Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia.
Hypokalemia
Structure-Based Design of Inhibitors with Improved Selectivity for Steroidogenic Cytochrome P450 17A1 over Cytochrome P450 21A2.
Hypokalemic Periodic Paralysis
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
Hyponatremia
Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency that Developed into Symptomatic Severe Hyponatremia.
Hyponatremia
Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency.
Hyponatremia
[Aggravation of salt loss due to hydrocortisone in the first days of treatment of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
Hypopituitarism
Salt-losing form of 21-hydroxylase deficiency accompanied by hypopituitarism in a boy.
Hypotension, Orthostatic
Addison Disease: The First Presentation of the Condition May be at Autopsy.
Hypothyroidism
Implications of ultrasonically diagnosed polycystic ovaries. I. Correlations with basal hormonal profiles.
IgA Deficiency
Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes.
IgA Deficiency
The coexistence of IgA deficiency and 21-hydroxylase deficiency marked by specific MHC supratypes.
Infections
A Case of Salt-Wasting 21-Hydroxylase Deficiency With Resistance to Aldosterone due to Urinary Tract Infection.
Infections
Repression of Hepatic Cytochrome P450 2D Expression in Mice during Babesia microti Infection.
Infertility
A 31-year-old woman with infertility and polycystic ovaries diagnosed with non-classic congenital adrenal hyperplasia due to a novel CYP21 mutation.
Infertility
Basal and adrenocorticotropic hormone-stimulated serum 17 alpha-hydroxyprogesterone in men with idiopathic infertility.
Infertility
Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.
Infertility
Fertility and pregnancy outcome in a woman with classic congenital adrenal hyperplasia.
Infertility
Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Infertility
Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours.
Infertility
Infertility caused by bilateral testicular masses secondary to congenital adrenal hyperplasia (21-hydroxylase deficiency).
Infertility
Infertility in a man with 21-hydroxylase deficient congenital adrenal hyperplasia.
Infertility
Infertility reversed by glucocorticoids and full-term pregnancy in a couple with previously undiagnosed nonclassic congenital adrenal hyperplasia.
Infertility
Non-Classic Adrenal Hyperplasia due to the Deficiency of 21-Hydroxylase and Its Relation to Polycystic Ovarian Syndrome.
Infertility
Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women.
Infertility
Premature ovarian failure associated with autoimmune polyglandular syndrome: pathophysiological mechanisms and future fertility.
Infertility
Primary infertility in 45-year-old man with untreated 21-hydroxylase deficiency: successful outcome with glucocorticoid therapy.
Infertility
Reversible infertility in a man with 21-hydroxylase deficiency congenital adrenal hyperplasia.
Infertility
Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency.
Infertility
Serum total testosterone levels in a patient with late onset 21-hydroxylase deficiency and a twin gestation.
Infertility
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
Infertility
Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.
Infertility, Female
[Steroid 21-hydroxylase deficiencies and female infertility: pathophysiology and management].
Infertility, Male
21-hydroxylase deficiency associated with male infertility: report of 2 cases with gene analyses.
Infertility, Male
Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: case report and literature review.
Infertility, Male
Home monitoring of 17 alpha-hydroxyprogesterone levels by filter paper blood spots in patients with 21-hydroxylase deficiency.
Infertility, Male
Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency.
Insulin Resistance
Associations between pituitary-adrenocortical function and abdominal obesity, hyperinsulinaemia and dyslipidaemia in normotensive males.
Insulin Resistance
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome.
Insulin Resistance
Hyperinsulinaemia, dyslipidaemia and exaggerated adrenal androgen response to adrenocorticotropin in male smokers.
Insulin Resistance
Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency.
Insulin Resistance
Metabolic evaluation of young women with congenital adrenal hyperplasia.
Insulin Resistance
Non-Classic Adrenal Hyperplasia due to the Deficiency of 21-Hydroxylase and Its Relation to Polycystic Ovarian Syndrome.
Insulin Resistance
Persistent insulin resistance after normalization of androgen levels in a woman with congenital adrenal hyperplasia. A case report.
Insulin Resistance
Plasma homocysteine levels in polycystic ovary syndrome and congenital adrenal hyperplasia.
Insulin Resistance
Prevalence of 21-hydroxylase-deficient nonclassic adrenal hyperplasia and insulin resistance among hirsute women from Puerto Rico.
Insulin Resistance
Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty?
Insulinoma
Organ-specific autoimmunity in relation to clinical characteristics in children with long-lasting type 1 diabetes.
Keratoconus
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency associated with bilateral keratoconus.
Klinefelter Syndrome
21-hydroxylase deficiency and klinefelter syndrome in an adult man: striking a balance between androgen excess and insufficiency.
Klinefelter Syndrome
Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?
Klinefelter Syndrome
Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.
Leiomyoma
Suicide inactivation of aromatase in human placenta and uterine leiomyoma by 5 alpha-dihydronorethindrone, a metabolite of norethindrone, and its effect on steroid-producing enzymes.
Leukodystrophy, Globoid Cell
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Lewy Body Disease
Alternative splicing patterns of CYP2D genes in human brain and neurodegenerative disorders.
Leydig Cell Tumor
A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia.
Leydig Cell Tumor
Extraadrenal expression of steroid 21-hydroxylase and 11 beta-hydroxylase by a benign testicular Leydig cell tumor.
Leydig Cell Tumor
Giant adrenal myelolipoma and testicular interstitial cell tumor in a man with congenital 21-hydroxylase deficiency.
Leydig Cell Tumor
Leydig cell tumor and malignant lymphoma in a patient with nonclassical 21-hydroxylase deficiency.
Leydig Cell Tumor
Leydig Cell Tumour in a 46,XX Child with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Leydig Cell Tumor
Steroid 21-hydroxylase in normal testes and malignant interstitial cell tumors.
Liver Diseases
Effects of Orotic Acid-Induced Non-Alcoholic Fatty Liver on the Pharmacokinetics of Metoprolol and its Metabolites in Rats.
Lung Neoplasms
Cytochrome P450 CYP2D6 gene polymorphism and lung cancer susceptibility in Caucasians.
Lupus Erythematosus, Systemic
Molecular heterogeneity of complement component C4-null and 21-hydroxylase genes in systemic lupus erythematosus.
Luteoma
Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome.
Luteoma
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma.
Luteoma
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.
Lymphoma
Leydig cell tumor and malignant lymphoma in a patient with nonclassical 21-hydroxylase deficiency.
Mastitis
[Study on relationships between seven microsatellite loci and somatic cell score in Beijing Holstein cows]
Meningomyelocele
Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Metabolic Diseases
Genetic analysis of Japanese patients with 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21.
Metabolic Syndrome
A Favorable Metabolic and Antiatherogenic Profile in Carriers of CYP21A2 Gene Mutations Supports the Theory of a Survival Advantage in This Population.
Metabolic Syndrome
Alterations in Lipid and Carbohydrate Metabolism in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Metabolism, Inborn Errors
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.
Metabolism, Inborn Errors
Rapid screening method for detecting mutations in the 21-hydroxylase gene.
Mucolipidoses
The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene.
Muscular Atrophy, Spinal
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Muscular Dystrophies
Screening Human Genes for Small Alterations Performing an Enzymatic Cleavage Mismatched Analysis (ECMA) Protocol.
Muscular Dystrophies
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
Myelolipoma
11C-Metomidate PET/CT Detected Multiple Ectopic Adrenal Rest Tumors in a Woman With Congenital Adrenal Hyperplasia.
Myelolipoma
Adrenal myelolipoma associated with congenital adrenal 21-hydroxylase deficiency.
Myelolipoma
Adrenal myelolipoma associated with endocrine dysfunction: review of the literature.
Myelolipoma
Adrenal Myelolipomas in Patients with Congenital Adrenal Hyperplasia: Review of the Literature and a Case Report.
Myelolipoma
Development of multiple adrenal myelolipomas after trauma-induced adrenal haemorrhage.
Myelolipoma
Giant adrenal myelolipoma and testicular interstitial cell tumor in a man with congenital 21-hydroxylase deficiency.
Myelolipoma
Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma.
Myelolipoma
Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia.
Myelolipoma
High frequency of Adrenal Myelolipomas and Testicular Adrenal Rest Tumours in adult Norwegian Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Myelolipoma
Lack of ACTH and androgen receptor expression in a giant adrenal myelolipoma associated with 21-hydroxylase deficiency.
Myelolipoma
PREVALENCE AND CHARACTERISTICS OF ADRENAL TUMORS AND MYELOLIPOMAS IN CONGENITAL ADRENAL HYPERPLASIA: A SYSTEMATIC REVIEW AND META-ANALYSIS.
Myelolipoma
Prevalence and Characteristics of Adrenal Tumors and Myelolipomas in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis.
Myelolipoma
[A case report: reversible male infertility due to congenital adrenal hyperplasia]
Myelolipoma
[Giant bilateral adrenal myelolipoma associated with congenital adrenal hyperplasia.]
nadph-hemoprotein reductase deficiency
Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.
nadph-hemoprotein reductase deficiency
Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development.
nadph-hemoprotein reductase deficiency
Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites.
nadph-hemoprotein reductase deficiency
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.
nadph-hemoprotein reductase deficiency
Prenatal diagnosis of congenital adrenal hyperplasia caused by p450 oxidoreductase deficiency.
nadph-hemoprotein reductase deficiency
Two-Step Biochemical Differential Diagnosis of Classic 21-Hydroxylase Deficiency and Cytochrome P450 Oxidoreductase Deficiency in Japanese Infants by GC-MS Measurement of Urinary Pregnanetriolone/ Tetrahydroxycortisone Ratio and 11?-Hydroxyandrosterone.
Nasopharyngeal Carcinoma
C4 and 21-hydroxylase gene deletions in nasopharyngeal carcinoma among the Chinese.
Neoplasm Metastasis
Female pseudohermaphroditism due to congenital adrenal hyperplasia complicated by adenocarcinoma of the prostate and clear cell carcinoma of the endometrium.
Neoplasms
11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency.
Neoplasms
131I-noriodocholesterol uptake by testicular adrenal rest tumors in a patient with classical 21-hydroxylase deficiency.
Neoplasms
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.
Neoplasms
A Diagnosis Not to Be Missed: Nonclassic Steroid 11?-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism.
Neoplasms
A fission yeast-based test system for the determination of IC50 values of anti-prostate tumor drugs acting on CYP21.
Neoplasms
A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma.
Neoplasms
A novel cAMP-dependent regulatory region including a sequence like the cAMP-responsive element, far upstream of the human CYP21A2 gene.
Neoplasms
A novel function of CYP21A2 in regulating cell migration and invasion via Wnt signaling.
Neoplasms
A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia.
Neoplasms
Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia.
Neoplasms
Abundance of DLK1, differential expression of CYP11B1, CYP21A2 and MC2R, and lack of INSL3 distinguish testicular adrenal rest tumours from Leydig cell tumours.
Neoplasms
Adrenal lymphocytic infiltration and adrenocortical tumors in a patient with 21-hydroxylase deficiency.
Neoplasms
Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.
Neoplasms
Adrenal tumor complicating untreated 21-hydroxylase deficiency in a 5 1/2-year-old boy.
Neoplasms
Adrenal tumour associated with silent 21-hydroxylase deficiency in a male or with a classic form of 21-hydroxylase defect in a female?
Neoplasms
Adrenocortical tumor in a patient with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Neoplasms
Adrenocortical tumor in a patient with untreated congenital adrenocortical hyperplasia owing to 21-hydroxylase deficiency: characterization of steroidogenic lesions.
Neoplasms
Adrenocortical tumour in untreated congenital adrenocortical hyperplasia associated with inadequate ACTH suppressibility.
Neoplasms
Androgen suppressive effect of GnRH agonist in ovarian hyperthecosis and virilizing tumours.
Neoplasms
Augmented 17 alpha-hydroxyprogesterone response to ACTH stimulation as evidence of decreased 21-hydroxylase activity in patients with incidentally discovered adrenal tumours ('incidentalomas').
Neoplasms
Bilateral aldosteronoma associated with secondary aldosteronism in a chronic hemodialysis subject.
Neoplasms
cis modification of the steroid 21-hydroxylase gene prevents its expression in the Y1 mouse adrenocortical tumor cell line.
Neoplasms
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs).
Neoplasms
Coexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?
Neoplasms
Comparisons of CYP2D messenger RNA splice variant profiles in human lung tumors and normal tissues.
Neoplasms
Computed tomography findings of testicular adrenal rest tumors resulted from 21-hydroxylase deficiency.
Neoplasms
Conservation of the central MHC genome: PFGE mapping and RFLP analysis of complement, HSP70, and TNF genes in the goat.
Neoplasms
CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2.
Neoplasms
Development of multiple adrenal myelolipomas after trauma-induced adrenal haemorrhage.
Neoplasms
Double adenomas with different pathological and hormonal features in the left adrenal gland of a patient with Cushing's syndrome.
Neoplasms
Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients.
Neoplasms
Excretion pattern of 3 beta-hydroxysteroids in patients with adrenal tumor, Cushing's disease and 21-hydroxylase deficiency, and in pregnancy, using thin-layer chromatography and color development of 3 beta-hydroxysteroids with 3 beta-hydroxysteroid oxidase.
Neoplasms
Expression of murine 21-hydroxylase in mouse adrenal glands and in transfected Y1 adrenocortical tumor cells.
Neoplasms
Extensive Bilateral Adrenal Rest Testicular Tumors in a Patient With 3?-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
Neoplasms
Extraadrenal expression of steroid 21-hydroxylase and 11 beta-hydroxylase by a benign testicular Leydig cell tumor.
Neoplasms
Favourable response of a virilizing adrenocortical carcinoma to preoperative treatment with ketoconazole and postoperative chemotherapy.
Neoplasms
Formation of a novel topotecan metabolite in the hormone-independent human prostate carcinoma cell lines DU-145 and PC-3.
Neoplasms
Giant adrenal myelolipoma and testicular interstitial cell tumor in a man with congenital 21-hydroxylase deficiency.
Neoplasms
Gonadectomy-related adrenocortical tumors in ferrets demonstrate increased expression of androgen and estrogen synthesizing enzymes together with high inhibin expression.
Neoplasms
Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment.
Neoplasms
High frequency of Adrenal Myelolipomas and Testicular Adrenal Rest Tumours in adult Norwegian Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Neoplasms
High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia.
Neoplasms
Homologies between the major histocompatibility complex of man and cattle: consequences for disease resistance and susceptibility.
Neoplasms
Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas.
Neoplasms
Identification of promoter elements in the mouse 21-hydroxylase (Cyp21) gene that require a functional cyclic adenosine 3',5'-monophosphate-dependent protein kinase.
Neoplasms
Impairment of 11 beta-hydroxylase but not 21-hydroxylase in adrenal 'incidentalomas'.
Neoplasms
Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours.
Neoplasms
In vitro secretion of deoxycorticosterone by a benign Leydig cell tumor of the testis.
Neoplasms
Increased prevalence of heterozygous 21-OH germline mutations in patients with adrenal incidentalomas.
Neoplasms
Isolated transient neonatal clitoromegaly with hyperandrogenism of unknown etiology.
Neoplasms
Leydig cell tumor and malignant lymphoma in a patient with nonclassical 21-hydroxylase deficiency.
Neoplasms
Leydig Cell Tumour in a 46,XX Child with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Neoplasms
Linkage map of the human major histocompatibility complex including the tumor necrosis factor genes.
Neoplasms
Localization of an ovarian cancer tumor suppressor gene to a 0.5-cM region between D22S284 and CYP2D, on chromosome 22q.
Neoplasms
Malignant Adrenal Rest Tumor of the Retroperitoneum Producing Adrenocortical Steroids.
Neoplasms
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.
Neoplasms
Molecular characterization of a Leydig cell tumor presenting as congenital adrenal hyperplasia.
Neoplasms
Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis.
Neoplasms
Multiple tumors associated with late-onset congenital adrenal hyperplasia due to aberrant splicing of adrenal 21-hydroxylase gene.
Neoplasms
No overrepresentation of congenital adrenal hyperplasia in patients with adrenocortical tumours.
Neoplasms
Origin of an ovarian steroid cell tumor causing isosexual pseudoprecocious puberty demonstrated by the expression of adrenal steroidogenic enzymes and adrenocorticotropin receptor.
Neoplasms
Ovarian steroid cell tumor, not otherwise specified, associated with congenital adrenal hyperplasia: rare tumors of an endocrine disease.
Neoplasms
Pigmented adrenal hyperplasia with myelolipomatous changes and bilateral testicular enlargement in an untreated man with 21-hydroxylase deficiency.
Neoplasms
Polymorphism of human CYP2D genes involved in drug metabolism: possible relationship to individual cancer risk.
Neoplasms
Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas.
Neoplasms
Prevalence of endocrine diseases and abnormal glucose tolerance tests in 340 Caucasian premenopausal women with hirsutism as the referral diagnosis.
Neoplasms
Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Neoplasms
Refinement of an ovarian cancer tumour suppressor gene locus on chromosome arm 22q and mutation analysis of CYP2D6, SREBP2 and NAGA.
Neoplasms
Review: fetal programming of polycystic ovary syndrome by androgen excess: evidence from experimental, clinical, and genetic association studies.
Neoplasms
Significance of steroidogenic enzymes in the pathogenesis of hyperfunctioning and non-hyperfunctioning adrenal tumor.
Neoplasms
Steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fraction of functioning adrenocortical tumors.
Neoplasms
Steroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors.
Neoplasms
Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism.
Neoplasms
Testicular Adrenal Rest Tumor In Brothers With Novel Mutation In 3-Beta Hydroxysteroid Dehydrogenase -2 Gene.
Neoplasms
Testicular adrenal rest tumors develop independently of long-term disease control: A longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency.
Neoplasms
Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients.
Neoplasms
Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up.
Neoplasms
Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
Neoplasms
The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Neoplasms
The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience.
Neoplasms
The suppression effect of DNA sequences within the C4A region on the transcription activity of human CYP21.
Neoplasms
Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency.
Neoplasms
Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.
Neoplasms
[21-hydroxylase deficiency associated with adrenal tumor: case report of two brothers]
Neoplasms
[A case report: reversible male infertility due to congenital adrenal hyperplasia]
Neoplasms
[Characterization of ovarian adrenal rest tumors in children and adolescent females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
Neoplasms
[Clinical characteristics of testicular adrenal rest tumor and factors associated with its occurrence in 21-hydroxylase deficiency patients].
Neoplasms
[Congenital adrenogenital syndrome and virilizing adrenocortical tumor in prepuberal females. Problems of diagnosis and therapy in 2 cases of virilization]
Nephritis
Genetic study on HLA class II and class III region in the disease associated with IgA nephropathy.
Neuroblastoma
Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency.
Neurodegenerative Diseases
Alternative splicing patterns of CYP2D genes in human brain and neurodegenerative disorders.
Non-alcoholic Fatty Liver Disease
Effects of Orotic Acid-Induced Non-Alcoholic Fatty Liver on the Pharmacokinetics of Metoprolol and its Metabolites in Rats.
Obesity
Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency.
Obesity
Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report.
Obesity
Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Obesity
Carotid Intima-Media Thickness Is Associated with Increased Androgens in Adolescents and Young Adults with Classical Congenital Adrenal Hyperplasia.
Obesity
Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency?
Obesity
Estimation of percent body fat based on anthropometric measurements in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Obesity
Inter- and intrafamilial variability in premature pubarche and polycystic ovary syndrome.
Obesity
Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Obesity
Obesity and Cardiometabolic Risk Factors in Children and Young Adults With Non-classical 21-Hydroxylase Deficiency.
Obesity
Peer group normalization and urine to blood context in steroid metabolomics: the case of CAH and obesity.
Obesity
Weight Loss during Topiramate Treatment in a Severely Obese Adolescent with Congenital Adrenal Hyperplasia and Migraine.
Obesity, Abdominal
Associations between pituitary-adrenocortical function and abdominal obesity, hyperinsulinaemia and dyslipidaemia in normotensive males.
Obesity, Abdominal
Pituitary-adrenocortical function in abdominal obesity of males: evidence for decreased 21-hydroxylase activity.
Obesity, Morbid
Weight Loss during Topiramate Treatment in a Severely Obese Adolescent with Congenital Adrenal Hyperplasia and Migraine.
Oligospermia
21-Deoxycortisol (21-DF) and 17-hydroxyprogesterone (17-OHP) responses to adrenalcorticotropic hormone in males with idiopathic oligozoospermia.
Oligospermia
Basal and adrenocorticotropic hormone-stimulated serum 17 alpha-hydroxyprogesterone in men with idiopathic infertility.
Oligospermia
Infertility in a man with 21-hydroxylase deficient congenital adrenal hyperplasia.
Osteogenesis Imperfecta
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
Osteoporosis
Effects of adrenal steroids on the bone metabolism of children with congenital adrenal hyperplasia.
Osteoporosis
Glucocorticoid-induced osteoporosis in children with 21-hydroxylase deficiency.
Osteoporosis
High dickkopf-1 levels in sera and leukocytes from children with 21-hydroxylase deficiency on chronic glucocorticoid treatment.
Osteoporosis
OSTEOCLASTOGENESIS IN CHILDREN WITH 21-HYDROXYLASE DEFICIENCY ON LONG TERM GLUCOCORTICOID THERAPY: THE ROLE OF RANKL/OPG IMBALANCE.
Ovarian Cysts
A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect.
Ovarian Cysts
Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency.
Ovarian Diseases
Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease.
Ovarian Diseases
Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease.
Ovarian Diseases
Polycystic ovarian disease and congenital and late-onset adrenal hyperplasia.
Ovarian Neoplasms
Localization of an ovarian cancer tumor suppressor gene to a 0.5-cM region between D22S284 and CYP2D, on chromosome 22q.
Overweight
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.
Overweight
Excess weight and precocious pubarche in children: alterations of the adrenocortical hormones.
Ovotesticular Disorders of Sex Development
Ambiguous genitalia--etiology, diagnosis, and therapy.
Paralysis
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
Pheochromocytoma
[Image diagnosis of adrenal disorders. III. "Nonfunctioning" adrenal adenoma, weak mineralocorticoids producing adrenal carcinoma, congenital adrenogenital syndrome due to 21-hydroxylase deficiency--simple virilizing form, and pheochromocytoma]
Pigmentation Disorders
[Short-term administration of dexamethasone in salt-losing 21-hydroxylase deficiency who showed sudden growth and pigmentation disorder under routine cortisol therapy]
Pituitary ACTH Hypersecretion
Clinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylase.
Pituitary ACTH Hypersecretion
Combined adrenal myelolipoma and adenoma associated with Cushing's syndrome.
Pituitary ACTH Hypersecretion
Cushing's disease in a patient with steroid 21-hydroxylase deficiency.
Pituitary ACTH Hypersecretion
Excretion pattern of 3 beta-hydroxysteroids in patients with adrenal tumor, Cushing's disease and 21-hydroxylase deficiency, and in pregnancy, using thin-layer chromatography and color development of 3 beta-hydroxysteroids with 3 beta-hydroxysteroid oxidase.
Pituitary ACTH Hypersecretion
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels.
Pituitary ACTH Hypersecretion
Nyctohemeral variation and suppressibility of plasma ACTH in various stages of Cushing's disease.
Pituitary ACTH Hypersecretion
Steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fraction of functioning adrenocortical tumors.
Pituitary Neoplasms
An acth-secreting pituitary tumour arising in a patient with congenital adrenal hyperplasia.
Pituitary Neoplasms
The prevalence of hyperandrogenism in 109 consecutive female patients with diffuse alopecia.
Polycystic Ovary Syndrome
Analysis of 52 C19 and C21 steroids by UPC2-MS/MS: Characterising the C11-oxy steroid metabolome in serum.
Polycystic Ovary Syndrome
Androstanediolglucuronide: a parameter for peripheral androgen activity before and during therapy with cyproterone acetate.
Polycystic Ovary Syndrome
Cognitive Outcome in Adult Women Affected by Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Polycystic Ovary Syndrome
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Polycystic Ovary Syndrome
CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS).
Polycystic Ovary Syndrome
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.
Polycystic Ovary Syndrome
Exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation and evidence for CYP21B gene point mutations in true precocious puberty.
Polycystic Ovary Syndrome
Lack of association between CYP21 V281L variant and polycystic ovary syndrome in Italian women.
Polycystic Ovary Syndrome
Non-Classic Adrenal Hyperplasia due to the Deficiency of 21-Hydroxylase and Its Relation to Polycystic Ovarian Syndrome.
Polycystic Ovary Syndrome
Nonclassic congenital adrenal hyperplasia and the heterozygote carrier.
Polycystic Ovary Syndrome
Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?
Polycystic Ovary Syndrome
Plasma homocysteine levels in polycystic ovary syndrome and congenital adrenal hyperplasia.
Polycystic Ovary Syndrome
Premature Adrenarche and its Association with Cardiovascular Risk in Females.
Polycystic Ovary Syndrome
Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess.
Polycystic Ovary Syndrome
Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.
Polycystic Ovary Syndrome
Radioimmunoassay of three deoxycorticoids in human plasma following HPLC separation.
Polycystic Ovary Syndrome
Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism.
Polycystic Ovary Syndrome
The 11?-hydroxysteroid dehydrogenase isoforms: pivotal catalytic activities yield potent C11-oxy C19 steroids with 11?HSD2 favouring 11-ketotestosterone, 11-ketoandrostenedione and 11-ketoprogesterone biosynthesis.
Polycystic Ovary Syndrome
The frequency of late-onset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome.
Polycystic Ovary Syndrome
The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome.
Polycystic Ovary Syndrome
The role of heterozygosity for CYP21 in the polycystic ovary syndrome.
Polycystic Ovary Syndrome
Transvaginal ultrasound detection of multifollicular ovaries in non-hirsute ovulatory women.
Polycystic Ovary Syndrome
Urinary 6-sulfatoxymelatonin excretion in hyperandrogenic women: the effect of cyproterone acetate-ethinyl estradiol treatment.
Polycystic Ovary Syndrome
[Partial deficiency in 21-hydroxylase in certain forms of hirsutism]
Polycythemia
[Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency presenting with erythrocytosis.]
Polyendocrinopathies, Autoimmune
Autoimmune regulator induced changes in the gene expression profile of human monocyte-dendritic cell-lineage.
Polyendocrinopathies, Autoimmune
Immunoprecipitation of steroidogenic enzyme autoantigens with autoimmune polyglandular syndrome type I (APS I) sera; further evidence for independent humoral immunity to P450c17 and P450c21.
Polyendocrinopathies, Autoimmune
Mapping of B cell epitopes on steroid 17 alpha-hydroxylase, an autoantigen in autoimmune polyglandular syndrome type I.
Polyendocrinopathies, Autoimmune
Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.
Prader-Willi Syndrome
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
Pre-Eclampsia
Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects.
Primary Ovarian Insufficiency
Autoantibody responses in autoimmune ovarian insufficiency and in Addison's disease are IgG1 dominated and suggest a predominant, but not exclusive, Th1 type of response.
Prolactinoma
Prevalence of endocrine diseases and abnormal glucose tolerance tests in 340 Caucasian premenopausal women with hirsutism as the referral diagnosis.
Prostatic Neoplasms
Analysis of 52 C19 and C21 steroids by UPC2-MS/MS: Characterising the C11-oxy steroid metabolome in serum.
Prostatic Neoplasms
The 11?-hydroxysteroid dehydrogenase isoforms: pivotal catalytic activities yield potent C11-oxy C19 steroids with 11?HSD2 favouring 11-ketotestosterone, 11-ketoandrostenedione and 11-ketoprogesterone biosynthesis.
Pseudohypoaldosteronism
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report.
Pseudohypoaldosteronism
Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B.
Puberty, Precocious
A 46XX disorder of sex development with a prostate gland and increased level of prostate-specific antigen.
Puberty, Precocious
A de novo mutation in CYP21A2 gene in a case of in vitro fertilization.
Puberty, Precocious
A Greek girl with 11?-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene.
Puberty, Precocious
Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls.
Puberty, Precocious
Benign testicular tumors in children with congenital adrenal hyperplasia.
Puberty, Precocious
CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty.
Puberty, Precocious
Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency.
Puberty, Precocious
Exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation and evidence for CYP21B gene point mutations in true precocious puberty.
Puberty, Precocious
Identification and Characterization of lncRNA and mRNA in Testes of Landrace and Hezuo Boars.
Puberty, Precocious
Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?
Puberty, Precocious
Role of Body Weight in the Onset and the Progression of Idiopathic Premature Pubarche.
Puberty, Precocious
Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life.
Puberty, Precocious
Transient central precocious puberty in non-classic 21-hydroxylase deficiency.
Puberty, Precocious
Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene.
Puberty, Precocious
[Gas chromatography-mass spectrometry determination of plasma 5 alpha-androstane-3 alpha,17 beta-diol and 5 alpha-androstane-3 alpha,17 beta-diol glucuronide in children with premature and normal puberty ]
Purpura
Genetic study on HLA class II and class III region in the disease associated with IgA nephropathy.
Pyloric Stenosis
Salt-wasting 21-hydroxylase deficiency congenital adrenal hyperplasia and pyloric stenosis in two Hispanic brothers.
Quadricuspid Aortic Valve
The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
Renal Insufficiency
[21-hydroxylase deficit revealed by hyperkalemia in the absence of renal failure in an insulin-dependent diabetic (author's transl)]
Sex Chromosome Aberrations
Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?
Sex Chromosome Disorders of Sex Development
Etiological classification and clinical assessment of children and adolescents with disorders of sex development.
Starvation
[Effect of starvation and acetone on the enzyme systems of biotransformation and toxicity of xenobiotics--CYP2E1 substrates in rats]
steroid 11beta-monooxygenase deficiency
11 beta-hydroxylase deficiency: management of a difficult case by laparoscopic bilateral adrenalectomy.
steroid 11beta-monooxygenase deficiency
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency.
steroid 11beta-monooxygenase deficiency
3 alpha-androstanediol glucuronide in virilizing congenital adrenal hyperplasia: a useful serum metabolic marker of integrated adrenal androgen secretion.
steroid 11beta-monooxygenase deficiency
A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region.
steroid 11beta-monooxygenase deficiency
A prospective study of the prevalence of nonclassical congenital adrenal hyperplasia among women presenting with hyperandrogenic symptoms and signs.
steroid 11beta-monooxygenase deficiency
ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism.
steroid 11beta-monooxygenase deficiency
Adrenal androgen hyperresponsiveness to adrenocorticotropin in women with acne and/or hirsutism: adrenal enzyme defects and exaggerated adrenarche.
steroid 11beta-monooxygenase deficiency
Adrenal steroidogenic function in a black and Hispanic population with precocious pubarche.
steroid 11beta-monooxygenase deficiency
Apparent double defect in C11 beta and C21-steroid hydroxylation in congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
Benign testicular tumors in children with congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
Coexistence of 21-hydroxylase and 11 beta-hydroxylase deficiency in adrenal incidentalomas and in subclinical Cushing's syndrome.
steroid 11beta-monooxygenase deficiency
Combined 21- and 11 beta-hydroxylase deficiency in familial congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
Combined 21-hydroxylase and 11beta-hydroxylase deficiency: patient report and molecular basis.
steroid 11beta-monooxygenase deficiency
Congenital adrenal hyperplasia and P450 oxidoreductase deficiency.
steroid 11beta-monooxygenase deficiency
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency: final diagnosis in adult age in three patients.
steroid 11beta-monooxygenase deficiency
Congenital adrenal hyperplasia due to combined 21- and 11 beta-hydroxylase deficiency.
steroid 11beta-monooxygenase deficiency
Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis.
steroid 11beta-monooxygenase deficiency
Congenital adrenal hyperplasia with 11 beta-hydroxylase deficiency.
steroid 11beta-monooxygenase deficiency
Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry.
steroid 11beta-monooxygenase deficiency
Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment.
steroid 11beta-monooxygenase deficiency
Distinctive plasma aldosterone, 18-hydroxycorticosterone, and 18-hydroxydeoxycorticosterone profile in the 21-, 17 alpha-, and 11 beta-hydroxylase deficiency types of congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
Evaluation of Adrenomedullary Function in Patients with Congenital Adrenal Hyperplasia.
steroid 11beta-monooxygenase deficiency
Glucocorticoid receptors in patients with congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
Late-onset congenital adrenal hyperplasia in women with hirsutism.
steroid 11beta-monooxygenase deficiency
Metabolism of glucocorticoids and mineralocorticoids in patients with adrenal incidentalomas.
steroid 11beta-monooxygenase deficiency
Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
steroid 11beta-monooxygenase deficiency
Molecular genetics of congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
Plasma 11beta-hydroxy-4-androstene-3,17-dione: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunoassay using a tritiated tracer.
steroid 11beta-monooxygenase deficiency
Prenatal treatment of congenital adrenal hyperplasia. The United States experience.
steroid 11beta-monooxygenase deficiency
Reversed-phase high-performance liquid chromatography separation of adrenal steroids prior to radioimmunoassay: application in congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
Salivary and plasma androstenedione and 17-hydroxyprogesterone levels in congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency.
steroid 11beta-monooxygenase deficiency
Sonographic findings in infants with congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients.
steroid 11beta-monooxygenase deficiency
Testicular adrenal rest tumours in young adult males with congenital adrenal hyperplasia: prevalence and impact on testicular function.
steroid 11beta-monooxygenase deficiency
Testicular adrenal-like tissue (TALT) in congenital adrenal hyperplasia: detection by ultrasonography.
steroid 11beta-monooxygenase deficiency
Testicular adrenal-like tissue in a patient with 17 alpha-hydroxylase deficiency.
steroid 11beta-monooxygenase deficiency
The frequency of late-onset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome.
steroid 11beta-monooxygenase deficiency
The steroid response to controlled adrenal stimulation in congenital adrenal hyperplasia.
steroid 11beta-monooxygenase deficiency
[Congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency]
steroid 11beta-monooxygenase deficiency
[Partial 3-beta-hydroxysteroid dehydrogenase deficiencies]
steroid 11beta-monooxygenase deficiency
[Rare forms of female pseudohermaphroditism: when to investigate?]
steroid 11beta-monooxygenase deficiency
[Treatment of male adrenogenital syndrome (report of 17 cases)]
steroid 17alpha-monooxygenase deficiency
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
steroid 21-monooxygenase deficiency
"Acquired" adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorders as congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
"Masked" 21-hydroxylase deficiency of the adrenal presenting with gynecomastia and bilateral testicular masses.
steroid 21-monooxygenase deficiency
'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population.
steroid 21-monooxygenase deficiency
'Exaggerated adrenarche' in children presenting with premature adrenarche.
steroid 21-monooxygenase deficiency
11 beta-hydroxylase deficiency: management of a difficult case by laparoscopic bilateral adrenalectomy.
steroid 21-monooxygenase deficiency
11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
11-Oxygenated Androgens Useful in the Setting of Discrepant Conventional Biomarkers in 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
11C-Metomidate PET/CT Detected Multiple Ectopic Adrenal Rest Tumors in a Woman With Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
131I-noriodocholesterol uptake by testicular adrenal rest tumors in a patient with classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
15 beta-hydroxylated steroids may be diagnostically misleading in confirming congenital adrenal hyperplasia suspected by a newborn screening programme.
steroid 21-monooxygenase deficiency
17-Hydroxyprogesterone in the cosyntropin test: results in normal and hirsute women and in mild congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
17-Hydroxyprogesterone response to ACTH in bilateral and monolateral adrenal incidentalomas.
steroid 21-monooxygenase deficiency
17-Hydroxyprogesterone responses to adrenocorticotropin in children with premature adrenarche.
steroid 21-monooxygenase deficiency
17-hydroxyprogesterone, androstenedione, and testosterone in normal children and in prepubertal patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
17OH-progesterone response to acute dexamethasone administration in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
21-Deoxyaldosterone excretion in patients with primary aldosteronism and 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
21-Deoxycortisol (21-DF) and 17-hydroxyprogesterone (17-OHP) responses to adrenalcorticotropic hormone in males with idiopathic oligozoospermia.
steroid 21-monooxygenase deficiency
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
21-hydroxylase deficiency and klinefelter syndrome in an adult man: striking a balance between androgen excess and insufficiency.
steroid 21-monooxygenase deficiency
21-hydroxylase deficiency and Turner's syndrome: a reason for diminished endometrial receptivity.
steroid 21-monooxygenase deficiency
21-Hydroxylase deficiency associated with an atypical CYP21A2 E6 cluster containing p.I236K.
steroid 21-monooxygenase deficiency
21-hydroxylase deficiency associated with male infertility: report of 2 cases with gene analyses.
steroid 21-monooxygenase deficiency
21-hydroxylase deficiency congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.
steroid 21-monooxygenase deficiency
21-Hydroxylase deficiency in female hyperandrogenism: screening and diagnosis.
steroid 21-monooxygenase deficiency
21-Hydroxylase deficiency in Italy: a distinct distribution pattern of CYP21 mutations in a sample from southern Italy.
steroid 21-monooxygenase deficiency
21-Hydroxylase deficiency in the neonate - trends in steroid anabolism and catabolism during the first weeks of life.
steroid 21-monooxygenase deficiency
21-Hydroxylase deficiency presenting as massive bilateral adrenal masses in the seventh decade of life.
steroid 21-monooxygenase deficiency
21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.
steroid 21-monooxygenase deficiency
21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease.
steroid 21-monooxygenase deficiency
21-Hydroxylase Deficiency: Clinical Features, Laboratory Profile and Pointers to Diagnosis in Indian Children.
steroid 21-monooxygenase deficiency
21-hydroxylase deficiency: disease-causing mutations categorized by densitometry of 21-hydroxylase-specific deoxyribonucleic acid fragments.
steroid 21-monooxygenase deficiency
21-Hydroxylase deficiency: from molecular genetics to clinical presentation.
steroid 21-monooxygenase deficiency
21-Hydroxylase deficiency: HLA genotypes and hormonal phenotypes in the families of 32 Italian patients.
steroid 21-monooxygenase deficiency
21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification.
steroid 21-monooxygenase deficiency
21-Hydroxylase deficiency: screening and incidence in Israel.
steroid 21-monooxygenase deficiency
3 alpha-Androstanediol glucuronide in premature and normal pubarche.
steroid 21-monooxygenase deficiency
3 alpha-androstanediol glucuronide in virilizing congenital adrenal hyperplasia: a useful serum metabolic marker of integrated adrenal androgen secretion.
steroid 21-monooxygenase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age.
steroid 21-monooxygenase deficiency
3?-hydroxysteroid dehydrogenase type II deficiency on newborn screening test.
steroid 21-monooxygenase deficiency
46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: association or coincidence?
steroid 21-monooxygenase deficiency
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations.
steroid 21-monooxygenase deficiency
A 46XX disorder of sex development with a prostate gland and increased level of prostate-specific antigen.
steroid 21-monooxygenase deficiency
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.
steroid 21-monooxygenase deficiency
A Case of 11beta-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS.
steroid 21-monooxygenase deficiency
A case of 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: difficulties and delay in etiologic diagnosis.
steroid 21-monooxygenase deficiency
A Case of a Preterm Infant with 21-Hydroxylase Deficiency: Implications of the Biochemical Diagnosis with Urinary Pregnanetriolone by Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring (GCMS-SIM).
steroid 21-monooxygenase deficiency
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.
steroid 21-monooxygenase deficiency
A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
steroid 21-monooxygenase deficiency
A case of first trimester prenatal diagnosis of 21-hydroxylase deficiency with human complement C4 cDNA probe.
steroid 21-monooxygenase deficiency
A case of recurrent labial adhesions in a 15-month-old child with asymptomatic non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
A Case of Salt-Wasting 21-Hydroxylase Deficiency With Resistance to Aldosterone due to Urinary Tract Infection.
steroid 21-monooxygenase deficiency
A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature.
steroid 21-monooxygenase deficiency
A case of silent 21-hydroxylase deficiency with persistent adrenal insufficiency after removal of an adrenal incidentaloma.
steroid 21-monooxygenase deficiency
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency.
steroid 21-monooxygenase deficiency
A chemiluminescent method for the measurement of pregnanetriol-3 alpha-glucuronide in human diluted urine.
steroid 21-monooxygenase deficiency
A Comparative Study of Sexual Experiences: Women with Diabetes and Women with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
A contribution to the classification of cases of non-classic 21-hydroxylase-deficient congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
A Cross-Section Study of the Ontogeny of Gender Roles in Women with DSD.
steroid 21-monooxygenase deficiency
A de novo mutation in CYP21A2 gene in a case of in vitro fertilization.
steroid 21-monooxygenase deficiency
A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome.
steroid 21-monooxygenase deficiency
A detailed investigation of hirsutism in a Turkish population: idiopathic hyperandrogenemia as a perplexing issue.
steroid 21-monooxygenase deficiency
A Diagnosis Not to Be Missed: Nonclassic Steroid 11?-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism.
steroid 21-monooxygenase deficiency
A Favorable Metabolic and Antiatherogenic Profile in Carriers of CYP21A2 Gene Mutations Supports the Theory of a Survival Advantage in This Population.
steroid 21-monooxygenase deficiency
A feminizing adrenocortical carcinoma in the context of a late onset 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy.
steroid 21-monooxygenase deficiency
A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect.
steroid 21-monooxygenase deficiency
A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes.
steroid 21-monooxygenase deficiency
A Greek girl with 11?-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene.
steroid 21-monooxygenase deficiency
A hitherto unreported case of 21-hydroxylase deficiency associated with Bartter's syndrome and a balanced 6-9 translocation.
steroid 21-monooxygenase deficiency
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.
steroid 21-monooxygenase deficiency
A large view of CYP21 locus among Sicilians and other Populations: identification of a novel CYP21A2 variant in Sicily.
steroid 21-monooxygenase deficiency
A Liquid Chromatography/Tandem Mass Spectometry Profile of 16 Serum Steroids, Including 21-Deoxycortisol and 21-Deoxycorticosterone, for Management of Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma.
steroid 21-monooxygenase deficiency
A method for specific amplification and PCR sequencing of individual members of multigene families: application to the study of steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
A multicenter study of women with nonclassical congenital adrenal hyperplasia: relationship between genotype and phenotype.
steroid 21-monooxygenase deficiency
A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.
steroid 21-monooxygenase deficiency
A neonatal mass-screening for congenital adrenal hyperplasia in Japan.
steroid 21-monooxygenase deficiency
A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
A new marker for early diagnosis of 21-hydroxylase deficiency: 3beta,16alpha,17alpha-trihydroxy-5alpha-pregnane-7,20-dione.
steroid 21-monooxygenase deficiency
A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods.
steroid 21-monooxygenase deficiency
A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online.
steroid 21-monooxygenase deficiency
A novel homozygous CYP19A1 gene mutation: Aromatase deficiency mimicking congenital adrenal hyperplasia in an infant without obvious maternal virilisation.
steroid 21-monooxygenase deficiency
A Novel Homozygous Q334X Mutation in the HSD3B2 Gene Causing Classic 3?-Hydroxysteroid Dehydrogenase Deficiency: An Unexpected Diagnosis after a Positive Newborn Screen for 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
A paradox: elevated 21-hydroxypregnenolone production in newborns with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
A Patient (46XX) With Congenital Adrenal Hyperplasia and Prostate Cancer: A Case Report.
steroid 21-monooxygenase deficiency
A patient with 21-hydroxylase deficiency who exhibited only maternal major histocompatibility complex (MHC) antigens.
steroid 21-monooxygenase deficiency
A pharmacokinetic and pharmacodynamic study of delayed- and extended-release hydrocortisone (Chronocort) versus conventional hydrocortisone (Cortef) in the treatment of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region.
steroid 21-monooxygenase deficiency
A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing.
steroid 21-monooxygenase deficiency
A posterior-based omega-shaped flap vaginoplasty in girls with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
A practical approach to the diagnosis of polycystic ovary syndrome.
steroid 21-monooxygenase deficiency
A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia.
steroid 21-monooxygenase deficiency
A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain.
steroid 21-monooxygenase deficiency
A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.
steroid 21-monooxygenase deficiency
A rare combination: congenital adrenal hyperplasia due to 21 hydroxylase deficiency and turner syndrome.
steroid 21-monooxygenase deficiency
A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
steroid 21-monooxygenase deficiency
A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
A Retrospective Analysis of the Growth Pattern in Patients with Salt-wasting 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
A sclerosing stromal tumor of the ovary with masculinization in a premenarchal girl.
steroid 21-monooxygenase deficiency
A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
A Single Nucleotide Variant in the Promoter Region of 17?-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the swedish population.
steroid 21-monooxygenase deficiency
A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
A test for heterozygocity of 21-hydroxylase deficiency: preliminary report.
steroid 21-monooxygenase deficiency
A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7.
steroid 21-monooxygenase deficiency
A woman with salt-wasting congenital adrenal hyperplasia presenting with a mucinous ovarian cystadenoma during pregnancy.
steroid 21-monooxygenase deficiency
A woman with too much facial hair. Evaluating the possibility of attenuated 21-hydroxylase deficiency in hirsutism.
steroid 21-monooxygenase deficiency
Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Abiraterone acetate treatment lowers 11-oxygenated androgens.
steroid 21-monooxygenase deficiency
Abnormal steroid excretion in gestational trophoblastic disease complicated by ovarian theca-lutein cysts.
steroid 21-monooxygenase deficiency
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
steroid 21-monooxygenase deficiency
Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Absence of nonclassical congenital adrenal hyperplasia in patients with precocious adrenarche.
steroid 21-monooxygenase deficiency
Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Accuracy of anthropometric measurements in estimating fat mass in individuals with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism.
steroid 21-monooxygenase deficiency
Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight.
steroid 21-monooxygenase deficiency
Acute metabolic crisis induced by vaccination in seven Chinese patients.
steroid 21-monooxygenase deficiency
Adiponectin levels are high in children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Adolescent ovarian thecoma presenting as progressive hyperandrogenism: case report and review of the literature.
steroid 21-monooxygenase deficiency
Adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency have vascular dysfunction.
steroid 21-monooxygenase deficiency
Adrenal 21-hydroxylase deficiency in childhood: 25 years' experience.
steroid 21-monooxygenase deficiency
Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status.
steroid 21-monooxygenase deficiency
Adrenal androgen hyperresponsiveness to adrenocorticotropin in women with acne and/or hirsutism: adrenal enzyme defects and exaggerated adrenarche.
steroid 21-monooxygenase deficiency
Adrenal androgenic response to 2-hour ACTH stimulation test in women with PCOS.
steroid 21-monooxygenase deficiency
Adrenal C11-oxy C21 steroids contribute to the C11-oxy C19 steroid pool via the backdoor pathway in the biosynthesis and metabolism of 21-deoxycortisol and 21-deoxycortisone.
steroid 21-monooxygenase deficiency
Adrenal incidentalomas: adrenal hemangioma in a patient with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Adrenal insufficiency in a man with non-classical 21-hydroxylase deficiency: consequence or coincidence?
steroid 21-monooxygenase deficiency
Adrenal lymphocytic infiltration and adrenocortical tumors in a patient with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Adrenal myelolipoma associated with congenital adrenal 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Adrenal myelolipoma associated with endocrine dysfunction: review of the literature.
steroid 21-monooxygenase deficiency
Adrenal Myelolipomas in Patients with Congenital Adrenal Hyperplasia: Review of the Literature and a Case Report.
steroid 21-monooxygenase deficiency
Adrenal nodules in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: regression after adequate hormonal control.
steroid 21-monooxygenase deficiency
Adrenal response to adrenocorticotropin hormone and HLA typing of subjects with different degrees of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.
steroid 21-monooxygenase deficiency
Adrenal status during the first month of life in mature and premature human infants.
steroid 21-monooxygenase deficiency
Adrenal steroidogenesis in heterozygotes for 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Adrenal steroidogenic defects in children with precocious pubarche.
steroid 21-monooxygenase deficiency
Adrenal steroidogenic function in a black and Hispanic population with precocious pubarche.
steroid 21-monooxygenase deficiency
Adrenal tumor complicating untreated 21-hydroxylase deficiency in a 5 1/2-year-old boy.
steroid 21-monooxygenase deficiency
Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Adrenal tumors associated with inadequately treated congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Adrenal tumour associated with silent 21-hydroxylase deficiency in a male or with a classic form of 21-hydroxylase defect in a female?
steroid 21-monooxygenase deficiency
Adrenal tumour associated with silent 21-hydroxylase deficiency in a male.
steroid 21-monooxygenase deficiency
Adrenal virilism due to 21-hydroxylase deficiency in the postmenarchial female.
steroid 21-monooxygenase deficiency
Adrenal-derived 11-Oxygenated 19-Carbon Steroids are the Dominant Androgens in Classic 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Adrenarche and puberty in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Adrenarche does not occur in treated patients with congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Adrenocortical adenoma associated with inadequately treated congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Adrenocortical hydroxylase deficiencies in acne vulgaris.
steroid 21-monooxygenase deficiency
Adrenocortical incidentaloma with uncertain prognosis associated with an inadequately treated congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Adrenocortical tumor in a patient with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Adrenocortical tumor in a patient with untreated congenital adrenocortical hyperplasia owing to 21-hydroxylase deficiency: characterization of steroidogenic lesions.
steroid 21-monooxygenase deficiency
Adrenocortical tumour in untreated congenital adrenocortical hyperplasia associated with inadequate ACTH suppressibility.
steroid 21-monooxygenase deficiency
Adrenocorticotrophin stimulation and HLA polymorphisms suggest a high frequency of heterozygosity for steroid 21-hydroxylase deficiency in patients with Turner's syndrome and their families.
steroid 21-monooxygenase deficiency
Adrenocorticotropic hormone and 17-hydroxyprogesterone levels during high-dose glucocorticoid supplement for the management of clitoroplasty of CYP21A2 deficiency.
steroid 21-monooxygenase deficiency
Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Adrenogenital syndrome: unusual presentation in an adult.
steroid 21-monooxygenase deficiency
Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Adrenomedullary Function in Patients with Nonclassic Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Adult height of subjects with nonclassical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease.
steroid 21-monooxygenase deficiency
Adult women with 21-hydroxylase deficient congenital adrenal hyperplasia, surgical and psychological aspects.
steroid 21-monooxygenase deficiency
Age of appearance of circadian rhythm in blood 17-hydroxyprogesterone in 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Age-related changes in adrenal size during the first year of life in normal newborns, infants and patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: comparison of ultrasound and hormonal parameters.
steroid 21-monooxygenase deficiency
Age-specific changes in sex steroid biosynthesis and sex development.
steroid 21-monooxygenase deficiency
Aldosterone production despite absence or defectiveness of the CYP21 genes in two patients with salt-losing congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Aldosterone signaling defect in young infants: single-center report and review.
steroid 21-monooxygenase deficiency
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
steroid 21-monooxygenase deficiency
Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase.
steroid 21-monooxygenase deficiency
Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Alterations in Lipid and Carbohydrate Metabolism in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Altered 24-hour blood pressure profiles in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.
steroid 21-monooxygenase deficiency
Alternate day prednisone therapy in congenital adrenal hyperplasia: adrenal androgen suppression and normal growth.
steroid 21-monooxygenase deficiency
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.
steroid 21-monooxygenase deficiency
Ambiguous genitalia: what prenatal genetic testing is practical?
steroid 21-monooxygenase deficiency
Amenorrhea related to progestin excess in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Amniotic 17-alpha hydroxyprogesterone and HLA typing for the prenatal diagnosis of 21-alpha hydroxylase deficiency--congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Amniotic fluid 17-hydroxyprogesterone in early pregnancy.
steroid 21-monooxygenase deficiency
Amniotic fluid levels of 17 alpha-hydroxyprogesterone during human pregnancy: pre-natal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Amniotic fluid steroid levels and fetal adrenal weight in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
An 88-year-old woman diagnosed with adrenal tumor and congenital adrenal hyperplasia: connection or coincidence?
steroid 21-monooxygenase deficiency
An AAVrh10-CAG-CYP21-HA vector allows persistent correction of 21-hydroxylase deficiency in a Cyp21
steroid 21-monooxygenase deficiency
An acth-secreting pituitary tumour arising in a patient with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
steroid 21-monooxygenase deficiency
An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
An improved method for the detection of heterozygosity of congenital virilizing adrenal hyperplasia.
steroid 21-monooxygenase deficiency
An overview of molecular diagnosis of steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
An update on the frequency of nonclassic deficiency of adrenal 21-hydroxylase in the Yugoslav population.
steroid 21-monooxygenase deficiency
An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.
steroid 21-monooxygenase deficiency
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
steroid 21-monooxygenase deficiency
Analysis of 52 C19 and C21 steroids by UPC2-MS/MS: Characterising the C11-oxy steroid metabolome in serum.
steroid 21-monooxygenase deficiency
Analysis of blood spot 17 alpha-hydroxyprogesterone concentration in neonates.
steroid 21-monooxygenase deficiency
Analysis of Four Common Salt-Wasting Mutations in CYP21 (Steroid 21-Hydroxylase) by Cleavase Fragment Length Polymorphism Analysis and Characterization of a Frequent Polymorphism in Intron 6.
steroid 21-monooxygenase deficiency
Analysis of glucocorticoid metabolites in the neonatal period: catabolism of cortisone acetate by an infant with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Analysis of mutations causing steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Analysis of phenotypes and genotypes in 84 patients with 21-Hydroxylase deficiency in southern China.
steroid 21-monooxygenase deficiency
Analysis of steroid 21-hydroxylase gene in five unrelated Japanese patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Analysis of steroid 21-hydroxylase gene mutations in the Spanish population.
steroid 21-monooxygenase deficiency
Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Analysis of the CYP21A1P pseudogene: Indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes.
steroid 21-monooxygenase deficiency
Androgen excess and diagnostic steroid biomarkers for nonclassic 21-hydroxylase deficiency without cosyntropin stimulation.
steroid 21-monooxygenase deficiency
Androgen excess is due to elevated 11-oxygenated androgens in treated children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Androgen suppressive effect of GnRH agonist in ovarian hyperthecosis and virilizing tumours.
steroid 21-monooxygenase deficiency
Androgen synthesis in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Androgen-related effects on peripheral glucose metabolism in women with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Androgens and ankylosing spondylitis: a role in the pathogenesis?
steroid 21-monooxygenase deficiency
Androglottia in a young female adolescent with congenital adrenal hyperplasia and 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Androstanediolglucuronide: a parameter for peripheral androgen activity before and during therapy with cyproterone acetate.
steroid 21-monooxygenase deficiency
Androstenedione aromatization as a cause of gynecomastia in 11beta-hydroxylase and 21-hydroxylase deficiencies.
steroid 21-monooxygenase deficiency
Angiotensin and adrenal steroidogenesis: study of 21-hydroxylase-deficient congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Antenatal diagnosis and treatment of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism.
steroid 21-monooxygenase deficiency
Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome.
steroid 21-monooxygenase deficiency
Application of polymerase chain reaction with oligoligation assay to determine genotype in individuals presenting with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Application of Principal Component Analysis to Newborn Screening for Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Approach to the patient: the adult with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Aromatase Inhibitor Increases the Height of Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Ascertainment of 21-hydroxylase deficiency in individuals with HLA-B14 haplotype.
steroid 21-monooxygenase deficiency
Assay of steroids by liquid chromatography-tandem mass spectrometry in monitoring 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Assessing the risk of having a child with classic 21-hydroxylase deficiency: a new paradigm.
steroid 21-monooxygenase deficiency
Assessment of early atherosclerosis and left ventricular dysfunction in children with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning.
steroid 21-monooxygenase deficiency
Assessment of health-related quality of life in Egyptian children and adolescents with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Assessment of the 21-hydroxylase deficiency and the adrenal functions in young females with Turner syndrome.
steroid 21-monooxygenase deficiency
Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
steroid 21-monooxygenase deficiency
Assessment of the one hour adrenocorticotrophic hormone test in the diagnosis of attenuated 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.
steroid 21-monooxygenase deficiency
Association of p.His38Leu, a rare CYP21A2 mutation, with the classical simple virilizing phenotype of 21-hydroxylase deficiency in a 6-year-old boy.
steroid 21-monooxygenase deficiency
Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency.
steroid 21-monooxygenase deficiency
Attenuated forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Audit of care of patients with congenital adrenal hyperplasia due to 21-Hydroxylase deficiency in a referral hospital in South India.
steroid 21-monooxygenase deficiency
Augmented 17 alpha-hydroxyprogesterone response to ACTH stimulation as evidence of decreased 21-hydroxylase activity in patients with incidentally discovered adrenal tumours ('incidentalomas').
steroid 21-monooxygenase deficiency
Automated, fast and sensitive quantification of 17 alpha-hydroxy-progesterone, androstenedione and testosterone by tandem mass spectrometry with on-line extraction.
steroid 21-monooxygenase deficiency
Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.
steroid 21-monooxygenase deficiency
Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS.
steroid 21-monooxygenase deficiency
Auxological and biochemical parameters in assessing treatment of infants and toddlers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development.
steroid 21-monooxygenase deficiency
Basal and adrenocorticotropic hormone-stimulated serum 17 alpha-hydroxyprogesterone in men with idiopathic infertility.
steroid 21-monooxygenase deficiency
Basic and clinical aspects of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Behavioral assessment of females with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Behavioral effects of prenatal versus postnatal androgen excess in children with 21-hydroxylase-deficient congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Benign testicular tumors in children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
BILATERAL ADRENAL AND TESTICULAR MASS IN A PATIENT WITH CONGENITAL ADRENAL HYPERPLASIA.
steroid 21-monooxygenase deficiency
Bilateral adrenal incidentaloma caused by 21-hydroxylase deficiency in an adult.
steroid 21-monooxygenase deficiency
Bilateral adrenal myelolipoma associated with adrenogenital syndrome.
steroid 21-monooxygenase deficiency
Bilateral adrenal myelolipomas associated With 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Bilateral adrenalectomy for severe hypertension in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency: Long term follow-up.
steroid 21-monooxygenase deficiency
Bilateral laparoscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Bilateral ovary adrenal rest tumor in a congenital adrenal hyperplasia following adrenalectomy.
steroid 21-monooxygenase deficiency
Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Biochemical and genetic diagnosis of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.
steroid 21-monooxygenase deficiency
Bioelectrical Impedance Phase Angle and Its Determinants in Patients with Classic Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Birth Sizes of Neonates with Congenital Adrenal Hyperplasia Secondary to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report.
steroid 21-monooxygenase deficiency
Blood pressure in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Blood Pressure in the First Year of Life in Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: A Pilot Study.
steroid 21-monooxygenase deficiency
Blood pressure, fludrocortisone dose and plasma renin activity in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency followed from birth to 4 years of age.
steroid 21-monooxygenase deficiency
Blood-spot 17 alpha-hydroxyprogesterone radioimmunoassay in the follow-up of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Blood-spot 17-hydroxyprogesterone daily profiles in infants with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Blood-spot 17-hydroxyprogesterone in nonclassical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Blunted adrenarche in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Bone density in young patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Bone growth oscillation: longitudinal metabolic process of bone growth in congenital adrenal hyperplasia and nonendocrine short stature.
steroid 21-monooxygenase deficiency
Bone mass and body composition of adult women with congenital virilizing 21-hydroxylase deficiency after glucocorticoid treatment since infancy.
steroid 21-monooxygenase deficiency
Bone Mass in Young Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Bone mineral density and body composition in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Bone mineral density and body composition in prepubertal and adolescent patients with the classical form of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Bone mineral density and bone turnover in Romanian children and young adults with classical 21-hydroxylase deficiency are influenced by glucocorticoid replacement therapy.
steroid 21-monooxygenase deficiency
Bone mineral density and trabecular bone score in patients with 21-hydroxylase deficiency after glucocorticoid treatment.
steroid 21-monooxygenase deficiency
Bone mineral density in girls with classical congenital adrenal hyperplasia due to CYP21 deficiency.
steroid 21-monooxygenase deficiency
Bone mineral density in relation to glucocorticoid substitution therapy in adult patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Bone mineral status in children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Bone mineral status in Egyptian children with classic congenital adrenal hyperplasia. A single-center study from Upper Egypt.
steroid 21-monooxygenase deficiency
Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Brain development and cognitive, psychosocial, and psychiatric functioning in classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Brain Differences in the Prefrontal Cortex, Amygdala, and Hippocampus in Youth with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Capillary gas chromatography as a tool for characterization of urinary steroid excretion in patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Cardio-metabolic risk factors in youth with classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Cardiovascular disease risk in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Cardiovascular risk factors and increased carotid intima-media thickness in young patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Carotid Intima-Media Thickness Is Associated with Increased Androgens in Adolescents and Young Adults with Classical Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese.
steroid 21-monooxygenase deficiency
Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.
steroid 21-monooxygenase deficiency
Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne.
steroid 21-monooxygenase deficiency
Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.
steroid 21-monooxygenase deficiency
Carriers of a classic CYP21A2 mutation have a reduced mortality. A population-based national cohort study.
steroid 21-monooxygenase deficiency
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions.
steroid 21-monooxygenase deficiency
CH-8 Phenotype in Steroid 21-Hydroxylase Deficiency: Fact or Fancy?
steroid 21-monooxygenase deficiency
Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype-phenotype correlation using next generation sequencing in Southeastern Anatolia.
steroid 21-monooxygenase deficiency
Changes in size and sonographic characteristics of the adrenal glands during the first year of life and the sonographic diagnosis of adrenal hyperplasia in infants with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Changes of several adrenal delta 4-steroids measured by HPLC-UV spectrometry in neonatal patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles.
steroid 21-monooxygenase deficiency
Characterization of gene rearrangements and gene conversion events in the 21-hydroxylase gene.
steroid 21-monooxygenase deficiency
Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Childhood-onset congenital adrenal hyperplasia: long-term outcome and optimization of therapy.
steroid 21-monooxygenase deficiency
Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life.
steroid 21-monooxygenase deficiency
Chimeric CYP21A1P/CYP21A2 Genes Identified in Czech Patients with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module.
steroid 21-monooxygenase deficiency
Chlormadinone acetate as a possible effective agent for congenital adrenal hyperplasia to suppress elevated ACTH and antagonize masculinization.
steroid 21-monooxygenase deficiency
Circadian blood pressure profiles and ambulatory arterial stiffness index in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.
steroid 21-monooxygenase deficiency
Circadian variation of plasma 17-hydroxyprogesterone among heterozygotic carriers of 21-hydroxylase deficiency (salt-losing form).
steroid 21-monooxygenase deficiency
Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites.
steroid 21-monooxygenase deficiency
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland.
steroid 21-monooxygenase deficiency
Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.
steroid 21-monooxygenase deficiency
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs).
steroid 21-monooxygenase deficiency
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006.
steroid 21-monooxygenase deficiency
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in croatia between 1995 and 2006.
steroid 21-monooxygenase deficiency
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density.
steroid 21-monooxygenase deficiency
Classical Forms of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Adults.
steroid 21-monooxygenase deficiency
Clémentine Delait (1865-1934), the most famous bearded lady on the continent in the 20th century.
steroid 21-monooxygenase deficiency
Clinical and biological phenotypes in late-onset 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Clinical and endocrinological aspects of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Clinical and genetic characterization of nonclassic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11?-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
steroid 21-monooxygenase deficiency
Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Clinical and molecular review of atypical congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Clinical audit concerning the quality of management in patients with classic form of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the pre-screening era.
steroid 21-monooxygenase deficiency
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.
steroid 21-monooxygenase deficiency
Clinical course of patients with nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in infancy and childhood.
steroid 21-monooxygenase deficiency
Clinical Features of an Unrecognized 21-hydroxylase Deficiency Woman During Controlled Ovarian Hyperstimulation.
steroid 21-monooxygenase deficiency
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.
steroid 21-monooxygenase deficiency
Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche.
steroid 21-monooxygenase deficiency
Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes.
steroid 21-monooxygenase deficiency
Clinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylase.
steroid 21-monooxygenase deficiency
Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.
steroid 21-monooxygenase deficiency
Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Clinical outcomes in the management of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Clinical perspectives in congenital adrenal hyperplasia due to 3?-hydroxysteroid dehydrogenase type 2 deficiency.
steroid 21-monooxygenase deficiency
Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
steroid 21-monooxygenase deficiency
Clinical review 54: Genetics, diagnosis, and management of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height.
steroid 21-monooxygenase deficiency
Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.
steroid 21-monooxygenase deficiency
Clinically silent congenital adrenal hyperplasia masquerading as ectopic adrenocorticotropic hormone syndrome.
steroid 21-monooxygenase deficiency
Clitoroplasty with preservation of neurovascular pedicles.
steroid 21-monooxygenase deficiency
Cloning and expression of cDNA encoding a bovine adrenal cytochrome P-450 specific for steroid 21-hydroxylation.
steroid 21-monooxygenase deficiency
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).
steroid 21-monooxygenase deficiency
CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty.
steroid 21-monooxygenase deficiency
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
steroid 21-monooxygenase deficiency
Coexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?
steroid 21-monooxygenase deficiency
Cognitive functioning in female patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Cognitive Outcome in Adult Women Affected by Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Cold stress and congenital adrenal hyperplasia heterozygotes.
steroid 21-monooxygenase deficiency
Colonic mucosal potential differences in the management of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Combined 21- and 11 beta-hydroxylase deficiency in familial congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension.
steroid 21-monooxygenase deficiency
Comments about the need for prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution.
steroid 21-monooxygenase deficiency
Comparing the Southern blot method and polymerase chain reaction product analysis for chimeric RCCX detection in CYP21A2 deficiency.
steroid 21-monooxygenase deficiency
Comparison between buserelin and dexamethasone testing in the assessment of hirsutism.
steroid 21-monooxygenase deficiency
Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Comparison of different glucocorticoid regimens in the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Comparison of separation techniques in radioimmunoassays for 17-hydroxyprogesterone.
steroid 21-monooxygenase deficiency
Comparison of the structure of HLA-Bw47 to HLA-B13 and its relationship to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Comparison of three commercial assays for the measurement of 17alpha-hydroxyprogesterone (17alpha-OHPR): limitations of the quality control system.
steroid 21-monooxygenase deficiency
Comparison of two different radioimmunoassays to measure 17-hydroxyprogesterone during treatment monitoring of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Compensatory growth after HLA-typing revelation of incorrect diagnosis of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Compensatory maturational deceleration of growth or "catch-down growth" in patients with congenital adrenal hyperplasia after delayed initiation of therapy.
steroid 21-monooxygenase deficiency
Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Complement C4 allotypes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: further evidence for different allelic variants at the 21-hydroxylase locus.
steroid 21-monooxygenase deficiency
Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Complement genes of the major histocompatibility complex (complotypes), extended haplotypes and disease markers.
steroid 21-monooxygenase deficiency
Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients.
steroid 21-monooxygenase deficiency
Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Comprehensive Mutation Analysis of the CYP21A2 Gene: An Efficient Multistep Approach to the Molecular Diagnosis of Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Computed tomography findings of testicular adrenal rest tumors resulted from 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Concentration of 14 steroid hormones in human amniotic fluid of midpregnancy.
steroid 21-monooxygenase deficiency
Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Congenital 21-hydroxylase deficiency as a new deletion mutation. Detection in a proband during subsequent prenatal diagnosis by HLA typing and DNA analysis.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations.
steroid 21-monooxygenase deficiency
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia - how to improve the transition from adolescence to adult life.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia - Pharmacologic interventions from the prenatal phase to adulthood.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia and brain magnetic resonance imaging abnormalities.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia and multiple sclerosis: is there an increased risk of multiple sclerosis in individuals with congenital adrenal hyperplasia?
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia and P450 oxidoreductase deficiency.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: A total population study.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia because of 21-hydroxylase deficiency. A genetic disorder of interest to obstetricians and gynecologists.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Its molecular basis and its remaining therapeutic problems.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia caused by defect in steroid 21-hydroxylase. Establishment of definitive urinary steroid excretion pattern during first weeks of life.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia diagnosed in a man during workup for bilateral adrenal masses.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency: final diagnosis in adult age in three patients.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency associated with bilateral keratoconus.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age.
steroid 21-monooxygenase deficiency
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY PRESENTING AS ADRENAL INCIDENTALOMA: A SYSTEMATIC REVIEW AND META-ANALYSIS.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--the adult woman.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A five-year retrospective study in the Children's Hospital of Damascus, Syria.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review of current knowledge.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty.
steroid 21-monooxygenase deficiency
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to combined 21- and 11 beta-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency. A study of five cases.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.
steroid 21-monooxygenase deficiency
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia family studies using the short ACTH test.
steroid 21-monooxygenase deficiency
Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia in Turkey: a review of 273 patients.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia masquerading as periodic paralysis in an adolescent girl.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Growth, development, and therapeutic considerations.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia presenting as massive adrenal incidentalomas in the sixth decade of life: report of two patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia with 11 beta-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia with 47, XXY Klinefelter syndrome.
steroid 21-monooxygenase deficiency
Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia with salt-wasting crisis and arrhythmia: a case study.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia--a clinical and genetic survey. Are we detecting male salt-losers?
steroid 21-monooxygenase deficiency
Congenital Adrenal Hyperplasia-When Clinical Symptoms Are Missing.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia. Molecular insights learned from patients.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia. Plasma and urinary steroid conjugates in seven children with steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: epidemiology, management and practical drug treatment.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: is there an effect on penile growth?
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: issues in diagnosis and treatment in children.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: management during critical illness.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: molecular mechanisms resulting in 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: phenotype and genotype.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: renin and steroid values during treatment.
steroid 21-monooxygenase deficiency
Congenital Adrenal Hyperplasia: Review from a Surgeon's Perspective in the Beginning of the Twenty-First Century.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: surgical considerations required to repair a 46,XX patient raised as a boy.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.
steroid 21-monooxygenase deficiency
Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: transition from chil dhood to adulthood.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: Treatment and outcomes.
steroid 21-monooxygenase deficiency
Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
steroid 21-monooxygenase deficiency
Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.
steroid 21-monooxygenase deficiency
Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.
steroid 21-monooxygenase deficiency
Consanguinity in question in two patients with congenital adrenal hyperplasia who bear an identical first and last name--second look.
steroid 21-monooxygenase deficiency
Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society.
steroid 21-monooxygenase deficiency
Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.
steroid 21-monooxygenase deficiency
Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Horm res 2002;58:188-195.
steroid 21-monooxygenase deficiency
Conventional molecular diagnosis of steroid 21-hydroxylase deficiency using mismatched primers and polymerase chain reaction.
steroid 21-monooxygenase deficiency
Correction: Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
CORRIGENDUM FOR "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline".
steroid 21-monooxygenase deficiency
Corrigendum to: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline".
steroid 21-monooxygenase deficiency
Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Cortical bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Cortisol and 17-hydroxyprogesterone kinetics in saliva after oral administration of hydrocortisone in children and young adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Cortisol and aldosterone responses to hypoglycemia and Na depletion in women with non-classic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Coupling of HLA-A3,Cw6,Bw47,DR7 and a normal CA21HB steroid 21-hydroxylase gene in the Old Order Amish.
steroid 21-monooxygenase deficiency
Cross-reactivity of steroid hormone immunoassays: clinical significance and two-dimensional molecular similarity prediction.
steroid 21-monooxygenase deficiency
Cross-talk between T cells and osteoclasts in bone resorption.
steroid 21-monooxygenase deficiency
Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Current status of neonatal screening for congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists.
steroid 21-monooxygenase deficiency
Cushing's disease in a patient with steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.
steroid 21-monooxygenase deficiency
CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands.
steroid 21-monooxygenase deficiency
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.
steroid 21-monooxygenase deficiency
CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families.
steroid 21-monooxygenase deficiency
CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
steroid 21-monooxygenase deficiency
CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children.
steroid 21-monooxygenase deficiency
CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
steroid 21-monooxygenase deficiency
CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
CYP21A2 intronic variants causing 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
steroid 21-monooxygenase deficiency
CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica.
steroid 21-monooxygenase deficiency
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.
steroid 21-monooxygenase deficiency
CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.
steroid 21-monooxygenase deficiency
Cyproterone acetate-ethinyl estradiol treatment alters urinary 6-sulfatoxymelatonin excretion in hyperandrogenic women.
steroid 21-monooxygenase deficiency
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.
steroid 21-monooxygenase deficiency
Cytochrome p450-dependent disposition of the enantiomers of citalopram and its metabolites: In vivo studies in Sprague-Dawley and Dark Agouti rats.
steroid 21-monooxygenase deficiency
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.
steroid 21-monooxygenase deficiency
Daily profiles of salivary cortisol in hydrocortisone treated children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
de novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings.
steroid 21-monooxygenase deficiency
Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Decreased bone mineral density and vertebral compression fractures in a young adult male with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH): is CAH an unrecognized population at risk for glucocorticoid-induced osteoporosis?
steroid 21-monooxygenase deficiency
Decreased cortisol secretion in nonclassical 21-hydroxylase deficiency before and during glucocorticoid therapy.
steroid 21-monooxygenase deficiency
Decreased levels of steroid 21-hydroxylase [P450(c21)] and its mRNA in an adrenocortical adenoma associated with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Decreased melatonin secretion in a phenotypically male 46,XX patient with classic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Defective antigen presentation and novel structural properties of DR1 from an HLA haplotype associated with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study.
steroid 21-monooxygenase deficiency
Definitive diagnosis of enzymatic deficiencies of steroidogenesis in at-risk newborns and infants by urinary marker analysis using GC/MS-SIM.
steroid 21-monooxygenase deficiency
Dehydroepiandrosterone induces a neuroendocrine phenotype in nerve growth factor-stimulated chromaffin pheochromocytoma PC12 cells.
steroid 21-monooxygenase deficiency
Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening.
steroid 21-monooxygenase deficiency
Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency.
steroid 21-monooxygenase deficiency
Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency.
steroid 21-monooxygenase deficiency
Delayed diagnosis of infants with abnormal neonatal screens.
steroid 21-monooxygenase deficiency
Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism.
steroid 21-monooxygenase deficiency
Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Deletion pattern in the 21-hydroxylase gene detected by polymerase chain reaction.
steroid 21-monooxygenase deficiency
Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in macedonian patients with congenital adrenal hyperplasia and their relatives.
steroid 21-monooxygenase deficiency
Detection and management of late-onset 21-hydroxylase deficiency in women with hyperandrogenism.
steroid 21-monooxygenase deficiency
Detection of a frequent duplicated CYP21A2 gene carrying a Q318X mutation in a general population with quantitative PCR methods.
steroid 21-monooxygenase deficiency
Detection of a novel severe mutation affecting the CYP21A2 gene in a Chilean male with salt wasting congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Detection of functional ovarian hyperandrogenism in women with androgen excess.
steroid 21-monooxygenase deficiency
Detection of heterozygote of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Detection of heterozygous carriers for 21-hydroxylase deficiency by plasma 21-deoxycortisol measurement.
steroid 21-monooxygenase deficiency
Detection of late onset steroid 21-hydroxylase deficiency by capillary gas chromatographic profiling of urinary steroids in children and adolescents.
steroid 21-monooxygenase deficiency
Detection of late-onset 21-hydroxylase deficiency congenital adrenal hyperplasia in adolescents.
steroid 21-monooxygenase deficiency
Detection of late-onset adrenal hyperplasia in girls with peripubertal virilization.
steroid 21-monooxygenase deficiency
Detection of RXFP1 receptors in skin biopsies from children with congenital adrenal hyperplasia: A preliminary report.
steroid 21-monooxygenase deficiency
Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction.
steroid 21-monooxygenase deficiency
Detection of the heterozygous state in siblings of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Determination of 17-hydroxyprogesterone in plasma by stable isotope dilution/benchtop liquid chromatography-tandem mass spectrometry.
steroid 21-monooxygenase deficiency
Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus.
steroid 21-monooxygenase deficiency
Development of a direct fluoroimmunoassay for serum levels of 17-hydroxyprogesterone.
steroid 21-monooxygenase deficiency
Development of a direct [125I]radioimmunoassay for serum levels of 17-hydroxyprogesterone.
steroid 21-monooxygenase deficiency
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Development of Graves' hyperthyroidism caused an adrenal crisis in a patient with previously unrecognized non-classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Development of multiple adrenal myelolipomas after trauma-induced adrenal haemorrhage.
steroid 21-monooxygenase deficiency
Development of plasma 21-deoxycortisol radioimmunoassay and application to the diagnosis of patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Developmental and functional biology of the primate fetal adrenal cortex.
steroid 21-monooxygenase deficiency
Dexamethasone Induces Germ Cell Apoptosis in the Human Fetal Ovary.
steroid 21-monooxygenase deficiency
Dexamethasone treatment of congenital adrenal hyperplasia in utero: an experimental therapy of unproven safety.
steroid 21-monooxygenase deficiency
Dexamethasone-suppressible adrenal tumour in untreated 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Diagnosis and management of classical congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Diagnosis and management of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline [Opinion].
steroid 21-monooxygenase deficiency
Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography-mass spectrometry analysis: Reference values for neonates and infants.
steroid 21-monooxygenase deficiency
Diagnosis of 21-hydroxylase deficiency in newborn infants by GC-MS of urinary steroids.
steroid 21-monooxygenase deficiency
Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry.
steroid 21-monooxygenase deficiency
Diagnosis of classical steroid 21-hydroxylase deficiency using an HLA-B locus-specific DNA-probe.
steroid 21-monooxygenase deficiency
Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment.
steroid 21-monooxygenase deficiency
Diagnostic approach to the newborn with ambiguous genitalia.
steroid 21-monooxygenase deficiency
Difference in transcriptional activity of two homologous CYP21A genes.
steroid 21-monooxygenase deficiency
Different states of clinical control are associated with changes in IGF-I and IGFBPs in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.
steroid 21-monooxygenase deficiency
Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification.
steroid 21-monooxygenase deficiency
Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Disorders of sex development and female reproductive capacity: A literature review.
steroid 21-monooxygenase deficiency
Disproportionate suppression of dehydroepiandrosterone sulfate (DHEAS) in treated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Dissociation of plasma renin activity and plasma aldosterone level during dexamethasone suppression test in non-salt-losers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Distinctive plasma aldosterone, 18-hydroxycorticosterone, and 18-hydroxydeoxycorticosterone profile in the 21-, 17 alpha-, and 11 beta-hydroxylase deficiency types of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Diurnal variation in blood 17-hydroxyprogesterone concentrations in untreated congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.
steroid 21-monooxygenase deficiency
Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes.
steroid 21-monooxygenase deficiency
Duration of suppression of adrenal steroids after glucocorticoid administration.
steroid 21-monooxygenase deficiency
Dynamics of 24-hour pulsatile cortisol, 17-hydroxyprogesterone, and androstenedione release in prepubertal patients with nonclassic 21-hydroxylase deficiency and normal prepubertal children.
steroid 21-monooxygenase deficiency
E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Early Adiposity Rebound Predicts Obesity and Adiposity in Youth with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Early central blood pressure elevation in adult patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Early diagnosis of congenital adrenal hyperplasia by measurement of 17-hydroxyprogesterone.
steroid 21-monooxygenase deficiency
Early growth is not increased in untreated moderately severe 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome.
steroid 21-monooxygenase deficiency
Early hypertension and prolonged mineralocorticoid therapy discontinuation in a child with salt-wasting 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Early prenatal diagnosis of 21-hydroxylase deficiency using amniotic fluid 17-hydroxyprogesterone determination and DNA probes.
steroid 21-monooxygenase deficiency
Ectopic adrenal rests in congenital adrenal hyperplasia as a cause of androgen excess after adrenalectomy detected by pelvic venous sampling.
steroid 21-monooxygenase deficiency
Effect of adrenocorticotropic hormone and human chorionic gonadotropin before and after bilateral oophorectomy in a patient with acquired adult-onset adrenal hyperplasia: a case report.
steroid 21-monooxygenase deficiency
Effect of aminoglutethimide on urinary steroid excretion in patients with congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Effect of androgen excess and glucocorticoid exposure on metabolic risk profiles in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Effect of carbenoxolone on the plasma renin activity and hypothalamic-pituitary-adrenal axis in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Effect of congenital adrenal hyperplasia treated by glucocorticoids on plasma metabolome: a machine-learning-based analysis.
steroid 21-monooxygenase deficiency
Effect of cortisol treatment on hormonal relationships in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Effect of hydrocortisone dose schedule on adrenal steroid secretion in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Effect of Long-Term Glucocorticoid Therapy on Cardiac Functions in Children with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Effect of naloxone on the neuropsychiatric symptoms of a woman with partial adrenal 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Effects of adrenal steroids on the bone metabolism of children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Effects of androgen excess and glucocorticoid exposure on bone health in adult patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Effects of continued adrenocorticotropin stimulation on the mineralocorticoid hormones in classical and nonclassical simple virilizing types of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients.
steroid 21-monooxygenase deficiency
Efficacy and safety of prenatal dexamethasone treatment in offspring at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A systematic review and meta-analysis.
steroid 21-monooxygenase deficiency
Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003.
steroid 21-monooxygenase deficiency
Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates.
steroid 21-monooxygenase deficiency
Elevation of serum luteinizing hormone levels during hydrocortisone treatment in infant girls with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Endocrinologic and psychologic evaluation of 21-hydroxylase deficiency carriers and matched normal subjects: evidence for physical and/or psychologic vulnerability to stress.
steroid 21-monooxygenase deficiency
Endocrinological and genetic studies in patients with Polycystic Ovary Syndrome (PCOS).
steroid 21-monooxygenase deficiency
Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Enzyme immunoassay for plasma renin activity: II. Clinical application.
steroid 21-monooxygenase deficiency
Enzyme-linked immunosorbent assay (ELISA) method for screening of non-classical steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Epidemiologic study of adrenal gland disorders in Japan.
steroid 21-monooxygenase deficiency
Epidemiology of 21-hydroxylase deficiency in Singapore.
steroid 21-monooxygenase deficiency
Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.
steroid 21-monooxygenase deficiency
Estimation of percent body fat based on anthropometric measurements in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Etiology of primary adrenal insufficiency in children: a 29-year single-center experience.
steroid 21-monooxygenase deficiency
Evaluation of 21-deoxycortisol as a marker for the detection of heterozygous carriers of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Evaluation of Adrenomedullary Function in Patients with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Evaluation of impact of steroid replacement treatment on bone health in children with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Everything the pediatrician ever wanted to know about HLA but was afraid to ask.
steroid 21-monooxygenase deficiency
Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation and evidence for CYP21B gene point mutations in true precocious puberty.
steroid 21-monooxygenase deficiency
Exchangeable sodium and aldosterone secretion in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Excretion pattern of 3 beta-hydroxysteroids in patients with adrenal tumor, Cushing's disease and 21-hydroxylase deficiency, and in pregnancy, using thin-layer chromatography and color development of 3 beta-hydroxysteroids with 3 beta-hydroxysteroid oxidase.
steroid 21-monooxygenase deficiency
Executive functioning in children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Experts' Opinion on the Prenatal Therapy of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency - Guideline of DGKED in cooperation with DGGG (S1-Level, AWMF Registry No.?174/013, July 2015).
steroid 21-monooxygenase deficiency
Exposure to Glucocorticoids in the First Part of Fetal Life is Associated with Insulin Secretory Defect in Adult Humans.
steroid 21-monooxygenase deficiency
Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families.
steroid 21-monooxygenase deficiency
Extended MHC haplotypes in 21-hydroxylase-deficiency congenital adrenal hyperplasia: shared genotypes in unrelated patients.
steroid 21-monooxygenase deficiency
Extended MHC haplotypes in salt-losing 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Extensive Bilateral Adrenal Rest Testicular Tumors in a Patient With 3?-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
steroid 21-monooxygenase deficiency
Extensive clinical experience: nonclassical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Extraadrenal steroid 21-hydroxylase activity in a woman with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Extraovarian steroid cell tumor 'not otherwise specified' as a rare cause of virilization in twelve-year-old girl.
steroid 21-monooxygenase deficiency
Failure of angiotensin II to stimulate increases in concentrations of adrenal androgens, 17-hydroxyprogesterone, or adrenocorticotropin in congenital 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Failure of cortisone acetate therapy in 21-hydroxylase deficiency in early infancy.
steroid 21-monooxygenase deficiency
Failure of cortisone acetate treatment in congenital adrenal hyperplasia because of defective 11beta-hydroxysteroid dehydrogenase reductase activity.
steroid 21-monooxygenase deficiency
False elevation of serum cortisol in chemiluminescence immunoassay by Siemens Advia Centaur XP system in 21-hydroxylase deficiency: an 'endocrine laboma'.
steroid 21-monooxygenase deficiency
False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Familial hypersecretion of adrenal androgens transmitted as a dominant, non-HLA linked trait.
steroid 21-monooxygenase deficiency
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma.
steroid 21-monooxygenase deficiency
Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening.
steroid 21-monooxygenase deficiency
Female pseudohermaphroditism and inefficient peak bone mass in an untreated subject affected by 21-hydroxylase congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.
steroid 21-monooxygenase deficiency
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome.
steroid 21-monooxygenase deficiency
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.
steroid 21-monooxygenase deficiency
Female pseudohermaphroditism due to congenital adrenal hyperplasia complicated by adenocarcinoma of the prostate and clear cell carcinoma of the endometrium.
steroid 21-monooxygenase deficiency
Female pseudohermaphroditism with adrenal cortical tumor in adulthood.
steroid 21-monooxygenase deficiency
Fertility and body composition after laparoscopic bilateral adrenalectomy in a 30-year-old female with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Fetal sex determination from maternal blood at 6 weeks of gestation when at risk for 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Final Adult Height in Children with Congenital Adrenal Hyperplasia Treated with Growth Hormone.
steroid 21-monooxygenase deficiency
Final height in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the Italian experience.
steroid 21-monooxygenase deficiency
Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism.
steroid 21-monooxygenase deficiency
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy.
steroid 21-monooxygenase deficiency
First insights into the genetics of 21-hydroxylase deficiency in the Roma population.
steroid 21-monooxygenase deficiency
First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination.
steroid 21-monooxygenase deficiency
First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).
steroid 21-monooxygenase deficiency
Five patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (one with associated neuroblastoma) discovered in three generations of one family.
steroid 21-monooxygenase deficiency
Fluorescence high performance liquid chromatographic determination of 3 alpha-hydroxysteroids in urine of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Flutamide decreases cortisol clearance in patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.
steroid 21-monooxygenase deficiency
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
steroid 21-monooxygenase deficiency
Fractures and bone mineral density in adult women with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Frequency of a polymorphism in the regulatory region of the 17 alpha-hydroxylase-17,20-lyase (CYP17) gene in hyperandrogenic states.
steroid 21-monooxygenase deficiency
Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.
steroid 21-monooxygenase deficiency
Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Functional and structural analysis of four novel mutations of CYP21A2 gene in italian patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
steroid 21-monooxygenase deficiency
Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Functional consequences of a novel point mutation in the CYP21A2 gene identified in a Chinese Han patient with nonclassic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene.
steroid 21-monooxygenase deficiency
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.
steroid 21-monooxygenase deficiency
Gender assignment for children with intersex problems: An Egyptian perspective.
steroid 21-monooxygenase deficiency
Gender Dichotomy in Long Term Growth Trajectories of Children with 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Gender Identity in Patients with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Gender related differences in glucocorticoid therapy and growth outcomes among pubertal children with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH).
steroid 21-monooxygenase deficiency
Gender role across development in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.
steroid 21-monooxygenase deficiency
Gender roles and behavioral problems in children with 21-hydroxylase deficiency in Southern China.
steroid 21-monooxygenase deficiency
Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein.
steroid 21-monooxygenase deficiency
Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types.
steroid 21-monooxygenase deficiency
Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.
steroid 21-monooxygenase deficiency
Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis.
steroid 21-monooxygenase deficiency
Gene frequencies and genetic linkage disequilibrium for the HLA-linked genes Bf, C2, C4S, C4F, 21-hydroxylase deficiency, and glyoxalase I.
steroid 21-monooxygenase deficiency
Gene symbol: CYP21A2. Disease: Non-classic 21-Hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Gene symbol: CYP21A2. Disease: steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Gene- and environment-dependent neuroendocrine etiogenesis of homosexuality and transsexualism.
steroid 21-monooxygenase deficiency
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.
steroid 21-monooxygenase deficiency
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population.
steroid 21-monooxygenase deficiency
Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Genetic aetiology of primary adrenal insufficiency in Chinese children.
steroid 21-monooxygenase deficiency
Genetic analysis of Japanese patients with 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21.
steroid 21-monooxygenase deficiency
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.
steroid 21-monooxygenase deficiency
Genetic analysis of two Japanese patients with non-classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Genetic and Clinical Features of P450 Oxidoreductase Deficiency.
steroid 21-monooxygenase deficiency
Genetic and epigenetic effects on sexual brain organization mediated by sex hormones.
steroid 21-monooxygenase deficiency
Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Genetic defects in pediatric-onset adrenal insufficiency in Japan.
steroid 21-monooxygenase deficiency
Genetic defects of steroidogenesis in premature pubarche.
steroid 21-monooxygenase deficiency
Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21.
steroid 21-monooxygenase deficiency
Genetic disruption of 21-hydroxylase in zebrafish causes interrenal hyperplasia.
steroid 21-monooxygenase deficiency
Genetic linkage and HLA association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Genetic mapping of the 21-hydroxylase locus: estimation of small recombination frequencies.
steroid 21-monooxygenase deficiency
Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.
steroid 21-monooxygenase deficiency
Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation.
steroid 21-monooxygenase deficiency
Genotype and clinical outcomes in children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Genotype and hormonal phenotype in nonclassical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
GENOTYPE IN THE DIAGNOSIS OF 21-HYDROXYLASE DEFICIENCY: WHO SHOULD UNDERGO CYP21A2 ANALYSIS?
steroid 21-monooxygenase deficiency
Genotype of classic congenital adrenal hyperplasia and the 60-minute adrenocorticotropic hormone stimulation test.
steroid 21-monooxygenase deficiency
Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.
steroid 21-monooxygenase deficiency
Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.
steroid 21-monooxygenase deficiency
Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.
steroid 21-monooxygenase deficiency
Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia.
steroid 21-monooxygenase deficiency
Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba.
steroid 21-monooxygenase deficiency
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
steroid 21-monooxygenase deficiency
Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: case report and literature review.
steroid 21-monooxygenase deficiency
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data.
steroid 21-monooxygenase deficiency
Gestational age correlates to genotype in girls with CYP21 deficiency.
steroid 21-monooxygenase deficiency
Giant adrenal myelolipoma and testicular interstitial cell tumor in a man with congenital 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma.
steroid 21-monooxygenase deficiency
Giant Bilateral Symptomatic Adrenal Myelolipomas Associated with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Glucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Glucocorticoid receptors in patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Glucocorticoid-induced increase in lymphocytic FKBP51 messenger ribonucleic acid expression: a potential marker for glucocorticoid sensitivity, potency, and bioavailability.
steroid 21-monooxygenase deficiency
Glucocorticoid-induced osteoporosis in children with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Gonadal and adrenal catheterization during adrenal suppression and gonadal stimulation in a patient with bilateral testicular tumors and congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Gonadal and adrenal sex steroids in ankylosing spondylitis.
steroid 21-monooxygenase deficiency
Growth analysis in patients with 21-hydroxylase deficiency influence of glucocorticoid dosage, age at diagnosis, phenotype and genotype on growth and height outcome.
steroid 21-monooxygenase deficiency
Growth and final height in classical and nonclassical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Growth and pubertal characteristics in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Growth and reproductive outcomes in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Growth curves for congenital adrenal hyperplasia from a national retrospective cohort.
steroid 21-monooxygenase deficiency
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.
steroid 21-monooxygenase deficiency
Growth Hormone Response To Physical Exercise in Growing Patients with Classic Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Growth in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Growth inhibition by glucocorticoid treatment in salt wasting 21-hydroxylase deficiency: in early infancy and (pre)puberty.
steroid 21-monooxygenase deficiency
Growth of patients with 21-hydroxylase deficiency: an analysis of the factors influencing adult height.
steroid 21-monooxygenase deficiency
Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy.
steroid 21-monooxygenase deficiency
Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment.
steroid 21-monooxygenase deficiency
Growth pattern and final height in 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Growth pattern during the first 36 months of life in congenital adrenal hyperplasia (21-hydroxylase deficiency).
steroid 21-monooxygenase deficiency
Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life.
steroid 21-monooxygenase deficiency
Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study.
steroid 21-monooxygenase deficiency
Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision).
steroid 21-monooxygenase deficiency
H28+C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing.
steroid 21-monooxygenase deficiency
Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Health Problems in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Health problems of adolescent and adult patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Health related quality of life of children and adolescents with congenital adrenal hyperplasia in Brazil.
steroid 21-monooxygenase deficiency
Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis.
steroid 21-monooxygenase deficiency
Height outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Evidence from recent data.
steroid 21-monooxygenase deficiency
Height Velocity defined metabolic Control in Children with Congenital Adrenal Hyperplasia using urinary GC-MS Analysis.
steroid 21-monooxygenase deficiency
Height, bone mineral density and bone markers in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Heterogeneity of steroid 21-hydroxylase genes in classical congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening.
steroid 21-monooxygenase deficiency
Heterozygotes and cryptic patients in families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency). HLA and glyoxalase I typing and hormonal studies.
steroid 21-monooxygenase deficiency
High 17-hydroxyprogesterone level in newborn screening test for congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
High carrier frequency of 21-hydroxylase deficiency in Cyprus.
steroid 21-monooxygenase deficiency
High dickkopf-1 levels in sera and leukocytes from children with 21-hydroxylase deficiency on chronic glucocorticoid treatment.
steroid 21-monooxygenase deficiency
High frequency of Adrenal Myelolipomas and Testicular Adrenal Rest Tumours in adult Norwegian Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
High frequency of nonclassical steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil.
steroid 21-monooxygenase deficiency
High frequency of splice site mutation in 21-hydroxylase deficiency children.
steroid 21-monooxygenase deficiency
High prevalence of polycystic ovary syndrome in women with mild hirsutism and no other significant clinical symptoms.
steroid 21-monooxygenase deficiency
High serum progesterone associated with infertility in a woman with nonclassic congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.
steroid 21-monooxygenase deficiency
High-Dose Hook Effect in 17-Hydroxyprogesterone Assay in a Patient with 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese.
steroid 21-monooxygenase deficiency
Hirsutism in the United Arab Emirates: a hospital study.
steroid 21-monooxygenase deficiency
HLA and hormonal data for identification of heterozygotes in 11 beta- and 17 alpha-hydroxylase deficiency syndromes.
steroid 21-monooxygenase deficiency
HLA and hormonal studies in 5 patients with late-onset 21-hydroxylase deficiency syndrome (21OHDS).
steroid 21-monooxygenase deficiency
HLA associations in 21-hydroxylase deficiency (congenital and late-onset adrenal hyperplasia) in France.
steroid 21-monooxygenase deficiency
HLA associations in late-onset 21-hydroxylase deficiency in Israel.
steroid 21-monooxygenase deficiency
HLA associations in patients with polycystic ovaries and in patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
HLA class I-, complement C4- and 21-hydroxylase probes in the genetic analysis of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
HLA family study in a group of Greek women with non-classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
HLA genotypes and HLA-linked genetic markers in Italian patients with classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
HLA haplotypes and hormonal studies in 25 Italian families of patients with classical and non-classical 21-OH deficiency.
steroid 21-monooxygenase deficiency
HLA linkage and B14, DR1, BfS haplotype association with the genes for late onset and cryptic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
HLA typing and ACTH stimulation in the detection of carriers for 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
HLA typing of patients with 21-hydroxylase deficiency in Iranian children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
HLA-B14 and nonclassical 21-hydroxylase deficiency in a heterogeneous New York population.
steroid 21-monooxygenase deficiency
Home monitoring of 17 alpha-hydroxyprogesterone levels by filter paper blood spots in patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Home monitoring of 17 hydroxyprogesterone levels in congenitx127drenal hyperplasia with filter paper blood samples.
steroid 21-monooxygenase deficiency
Hormonal and clinical responses to prednisone treatment in adolescents with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Hormonal and genetic analysis of a patient with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Hormonal diagnosis of 21-hydroxylase deficiency in plasma and urine of neonates using benchtop gas chromatography-mass spectrometry.
steroid 21-monooxygenase deficiency
Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life.
steroid 21-monooxygenase deficiency
Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas.
steroid 21-monooxygenase deficiency
Hormonal phenotype and HLA-genotype in families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency).
steroid 21-monooxygenase deficiency
Hormonal profiles of heterozygotes in humans for 21-hydroxylase deficiency defined by HLA B typing.
steroid 21-monooxygenase deficiency
Hormonal status and clinical relevance of hirsutism in elderly women.
steroid 21-monooxygenase deficiency
Hormonal therapies for individuals with intersex conditions: protocol for use.
steroid 21-monooxygenase deficiency
Hormonal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
How do mutations affect the structural characteristics and substrate binding of CYP21A2? An investigation by molecular dynamics simulations.
steroid 21-monooxygenase deficiency
Huge ovarian cyst in a neonate with classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Human congenital anomalies: application of new genetic tools and concepts.
steroid 21-monooxygenase deficiency
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect.
steroid 21-monooxygenase deficiency
Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Hyperandrogenism, Elevated 17-Hydroxyprogesterone and Its Urinary Metabolites in a Young Woman with Ovarian Steroid Cell Tumor, Not Otherwise Specified: Case Report and Review of the Literature.
steroid 21-monooxygenase deficiency
Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia.
steroid 21-monooxygenase deficiency
Hypoglycemia during acute illness in children with classic congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Hypospadias in a male patient with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Iatrogenic Cushing Syndrome in a Child With Congenital Adrenal Hyperplasia: Erroneous Compounding of Hydrocortisone.
steroid 21-monooxygenase deficiency
Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with Simple Virilizing form of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Identification of 15 beta-hydroxylated C21 steroids in the neo-natal period: the role of 3 alpha,15 beta,17 alpha-trihydroxy-5 beta-pregnan-20-one in the perinatal diagnosis of congenital adrenal hyperplasia (CAH) due to a 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis. Mutations in brief no. 218. Online.
steroid 21-monooxygenase deficiency
Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.
steroid 21-monooxygenase deficiency
Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests.
steroid 21-monooxygenase deficiency
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.
steroid 21-monooxygenase deficiency
Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche.
steroid 21-monooxygenase deficiency
Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
IGF-I-IGFBP-3-acid-labile subunit (ALS) complex in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH).
steroid 21-monooxygenase deficiency
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels.
steroid 21-monooxygenase deficiency
Imipramine-induced inactivation of a cytochrome P450 2D enzyme in rat liver microsomes: in relation to covalent binding of its reactive intermediate.
steroid 21-monooxygenase deficiency
Immunological pattern in patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Impact of glucocorticoid receptor gene polymorphisms on the metabolic profile of adult patients with the classical form of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Impact of Long-Term Dexamethasone Therapy on the Metabolic Profile of Patients With 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Impact of molecular genetics on congenital adrenal hyperplasia management.
steroid 21-monooxygenase deficiency
Impact of nasal continuous positive airway pressure for congenital adrenal hyperplasia with obstructive sleep apnea and bruxism.
steroid 21-monooxygenase deficiency
Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Impaired mineralocorticoid hormone responses to adrenocorticotropin stimulation: additional characterization of heterozygosity for the 21-hydroxylase deficiency type of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Impairment in anthropometric parameters and body composition in females with classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Impairment of 11 beta-hydroxylase but not 21-hydroxylase in adrenal 'incidentalomas'.
steroid 21-monooxygenase deficiency
Implementing steroid profiling by liquid chromatography-tandem mass spectrometry improves newborn screening for congenital adrenal hyperplasia in New Zealand.
steroid 21-monooxygenase deficiency
Implications of ultrasonically diagnosed polycystic ovaries. I. Correlations with basal hormonal profiles.
steroid 21-monooxygenase deficiency
Implications of ultrasonically diagnosed polycystic ovaries. II. Studies of dynamic and pulsatile hormonal patterns.
steroid 21-monooxygenase deficiency
Improved medical-alert ID ownership and utilization in youth with congenital adrenal hyperplasia following a parent educational intervention.
steroid 21-monooxygenase deficiency
Improvement of health-related quality of life in adult women with 21-hydroxylase deficiency over a 7 years period.
steroid 21-monooxygenase deficiency
Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours.
steroid 21-monooxygenase deficiency
In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS).
steroid 21-monooxygenase deficiency
Inadequate testosterone suppression after medical and subsequent surgical castration in a patient with prostate cancer.
steroid 21-monooxygenase deficiency
Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan.
steroid 21-monooxygenase deficiency
Incidence of Classical 21-Hydroxylase Deficiency and Distribution of CYP21A2 Mutations in Estonia.
steroid 21-monooxygenase deficiency
Incidental Finding of Bilateral Ovarian Adrenal Rest Tumor in a Patient With Congenital Adrenal Hyperplasia: A Case Report and Brief Review.
steroid 21-monooxygenase deficiency
Increase of lymphocytic H-Y antigen in female 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Increased 17 alpha-hydroxyprogesterone response to ACTH in silent adrenal adenoma: cause or effect?
steroid 21-monooxygenase deficiency
Increased Abdominal Adiposity in Adolescents and Young Adults With Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Increased activation of the alternative "backdoor" pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis.
steroid 21-monooxygenase deficiency
Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.
steroid 21-monooxygenase deficiency
Increased first-trimester nuchal translucency as a prenatal manifestation of salt-wasting congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Increased Liver Enzymes in Adult Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Increased plasma 21-deoxycorticosterone (21-DB) levels in late-onset adrenal 21-hydroxylase deficiency suggest a mild defect of the mineralocorticoid pathway.
steroid 21-monooxygenase deficiency
Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Increased Risk of Autoimmune Disorders in 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.
steroid 21-monooxygenase deficiency
Increased salt appetite in patients with congenital adrenal hyperplasia 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Increased urinary 6-sulfatoxymelatonin excretion in women with non-classical steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Increased urinary excretion of total 16 alpha-hydroxypregnenolone in newborn infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Indicators of adult height outcome in classical 21-hydroxylase deficiency congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Induction of ovulation with the sole use of clomiphene citrate in late-onset 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Infant with classic congenital adrenal hyperplasia (CAH) born to a mother with classic CAH.
steroid 21-monooxygenase deficiency
Infertility caused by bilateral testicular masses secondary to congenital adrenal hyperplasia (21-hydroxylase deficiency).
steroid 21-monooxygenase deficiency
Infertility in a man with 21-hydroxylase deficient congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Infertility reversed by glucocorticoids and full-term pregnancy in a couple with previously undiagnosed nonclassic congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.
steroid 21-monooxygenase deficiency
Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life.
steroid 21-monooxygenase deficiency
Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Insulin resistance in congenital adrenal hyperplasia is compensated for by reduced insulin clearance.
steroid 21-monooxygenase deficiency
Intelligence of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, their parents and unaffected siblings.
steroid 21-monooxygenase deficiency
Interaction between accumulated 21-deoxysteroids and mineralocorticoid signaling in 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry.
steroid 21-monooxygenase deficiency
Intima media thickness of common carotids and abdominal aorta in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.
steroid 21-monooxygenase deficiency
Intra-HLA recombinations localizing the 21-hydroxylase deficiency gene within the HLA complex.
steroid 21-monooxygenase deficiency
Introduction: Contemporary perspectives on congenital adrenal hyperplasia: impacts on reproduction.
steroid 21-monooxygenase deficiency
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
steroid 21-monooxygenase deficiency
Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?
steroid 21-monooxygenase deficiency
Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia?
steroid 21-monooxygenase deficiency
Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect?
steroid 21-monooxygenase deficiency
Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.
steroid 21-monooxygenase deficiency
Isolated premature pubarche: ultrasonographic and color Doppler analysis--a longitudinal study.
steroid 21-monooxygenase deficiency
Isolated transient neonatal clitoromegaly with hyperandrogenism of unknown etiology.
steroid 21-monooxygenase deficiency
Isosexual precocity: the clinical and etiologic profile.
steroid 21-monooxygenase deficiency
Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Italian extended HLA haplotypes in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Lack of ACTH and androgen receptor expression in a giant adrenal myelolipoma associated with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Lack of correlation between sex hormone binding globulin and free testosterone in some cases of "idiopathic" hirsutism.
steroid 21-monooxygenase deficiency
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
steroid 21-monooxygenase deficiency
Laparoscopic subtotal hysterectomy and bilateral adnexectomy in a child with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Late onset 21-hydroxylase deficiency and HLA in the Ashkenazi population: a new allele at the 21-hydroxylase locus.
steroid 21-monooxygenase deficiency
Late onset adrenal hyperplasia due to 3 beta-hydroxy-delta 5-steroid dehydrogenase deficiency in north Indian hirsute women.
steroid 21-monooxygenase deficiency
Late onset adrenal hyperplasia in a group of Irish females who presented with hirsutism, irregular menses and/or cystic acne.
steroid 21-monooxygenase deficiency
Late onset adrenal insufficiency after adrenalectomy due to latent nonclassical 21-hydroxylase deficiency: A case report.
steroid 21-monooxygenase deficiency
Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as isolated premature thelarche.
steroid 21-monooxygenase deficiency
Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome.
steroid 21-monooxygenase deficiency
Late-onset 21-hydroxylase deficiency and polycystic ovary disease. A case report.
steroid 21-monooxygenase deficiency
Late-onset 21-hydroxylase deficiency is an allelic variant of congenital adrenal hyperplasia characterized by attenuated clinical expression and different HLA haplotype associations.
steroid 21-monooxygenase deficiency
Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease.
steroid 21-monooxygenase deficiency
Late-onset 21-hydroxylase deficiency: reliable diagnosis by steroid analysis of random urine collections.
steroid 21-monooxygenase deficiency
Late-onset adrenal hyperplasia in north Indian hirsute women.
steroid 21-monooxygenase deficiency
Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women.
steroid 21-monooxygenase deficiency
Late-onset congenital adrenal hyperplasia in women with hirsutism.
steroid 21-monooxygenase deficiency
Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Late-onset type of 21-hydroxylase deficiency in childhood.
steroid 21-monooxygenase deficiency
LC-MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: implications for detecting heterozygote CYP21A2 mutation carriers.
steroid 21-monooxygenase deficiency
LC-MS/MS improves screening towards 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Letters to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline".
steroid 21-monooxygenase deficiency
Leukoencephalopathy in 21-beta hydroxylase deficiency: Report of a family.
steroid 21-monooxygenase deficiency
Leydig cell tumor and malignant lymphoma in a patient with nonclassical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Leydig Cell Tumour in a 46,XX Child with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Limitations of 17-hydroxyprogesterone in investigating neonatal hyponatraemia.
steroid 21-monooxygenase deficiency
Limited value of serum steroid measurements in identification of mild form of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Linear growth and pubertal development in treated congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Linkage and association between HLA and 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family.
steroid 21-monooxygenase deficiency
Long term outcome in adult males with classic congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males.
steroid 21-monooxygenase deficiency
Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults.
steroid 21-monooxygenase deficiency
Long-term Follow up of Congenital Adrenal Hyperplasia Patients with Hyponatremia.
steroid 21-monooxygenase deficiency
Long-term follow-up of a female patient with non-classical 11?-hydroxylase deficiency and two novel mutations in CYP11B1.
steroid 21-monooxygenase deficiency
Long-term follow-up of female patients with congenital adrenal hyperplasia from 21-hydroxylase deficiency, with special emphasis on the results of vaginoplasty.
steroid 21-monooxygenase deficiency
Long-term glucocorticoid effect on bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Long-term management of patients with disorders of sex development (DSD).
steroid 21-monooxygenase deficiency
Long-term outcome of classical 21-hydroxylase deficiency: diagnosis, complications and quality of life.
steroid 21-monooxygenase deficiency
Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Long-Term Outcome of Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Long-term outcome of prenatal dexamethasone treatment of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients.
steroid 21-monooxygenase deficiency
Low Adrenomedullary Function Predicts Acute Illness in Infants with Classical Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency.
steroid 21-monooxygenase deficiency
Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population.
steroid 21-monooxygenase deficiency
Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients.
steroid 21-monooxygenase deficiency
Management considerations for the adult with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.
steroid 21-monooxygenase deficiency
Management of 21-hydroxylase deficiency congenital adrenal hyperplasia: A survey of Canadian paediatric endocrinologists.
steroid 21-monooxygenase deficiency
Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency.
steroid 21-monooxygenase deficiency
Management of ambiguous genitalia in pseudohermaphrodites: new perspectives on vaginal dilation.
steroid 21-monooxygenase deficiency
Management of CAH during pregnancy: optimizing outcomes.
steroid 21-monooxygenase deficiency
Management of congenital adrenal hyperplasia during pregnancy.
steroid 21-monooxygenase deficiency
Management of congenital adrenal hyperplasia using serum dehydroepiandrosterone sulfate and 17-hydroxyprogesterone concentrations.
steroid 21-monooxygenase deficiency
Management of congenital adrenal hyperplasia: beyond conventional glucocorticoid therapy.
steroid 21-monooxygenase deficiency
MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.
steroid 21-monooxygenase deficiency
MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Management of the adult with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Management of the child with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Mapping of the 21-hydroxylase deficiency gene within the HLA linkage group.
steroid 21-monooxygenase deficiency
Masculinizing operation for a female patient with congenital adrenocortical hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Masked high progesterone levels during in vitro fertilization and embryo transfer treatment in a patient with 21-hydroxylase deficiency: A case report.
steroid 21-monooxygenase deficiency
Massive adrenocortical adenoma following long-term treatment of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.
steroid 21-monooxygenase deficiency
Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand.
steroid 21-monooxygenase deficiency
Measurement of salivary adrenal-specific androgens as biomarkers of therapy control in 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Measurement of Serum 17?-hydroxyprogesterone in Newborn Infants by Stable Isotope Dilution-Gas Chromatography/Mass Spectrometry.
steroid 21-monooxygenase deficiency
Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X.
steroid 21-monooxygenase deficiency
Medical management of adrenal disease: a narrative review.
steroid 21-monooxygenase deficiency
Menstrual bleeding in a female infant with congenital adrenal hyperplasia: altered maturation of the hypothalamic-pituitary-ovarian axis.
steroid 21-monooxygenase deficiency
Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Metabolic disorders in newly diagnosed young adult female patients with simple virilizing 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Metabolic evaluation of young women with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Metabolic profile and cardiovascular risk factors in adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Metabolic profile, cardiovascular risk factors and health-related quality of life in children, adolescents and young adults with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Metabolic syndrome manifestations in classic congenital adrenal hyperplasia: do they predispose to atherosclerotic cardiovascular disease and secondary polycystic ovary syndrome?
steroid 21-monooxygenase deficiency
Metabolism and concentration of androgenic steroids in abdominal skin of hirsute women with androgenital syndrome.
steroid 21-monooxygenase deficiency
Metabolism of glucocorticoids and mineralocorticoids in patients with adrenal incidentalomas.
steroid 21-monooxygenase deficiency
Metformin-responsive classic salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report.
steroid 21-monooxygenase deficiency
MHC "supratype" predicting heterozygous 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Mineralocorticoid and renal receptor binding activity of 21-deoxyaldosterone.
steroid 21-monooxygenase deficiency
Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Mitotane for 21-hydroxylase deficiency in an infertile man.
steroid 21-monooxygenase deficiency
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.
steroid 21-monooxygenase deficiency
Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients.
steroid 21-monooxygenase deficiency
Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
steroid 21-monooxygenase deficiency
Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.
steroid 21-monooxygenase deficiency
Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.
steroid 21-monooxygenase deficiency
Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Molecular basis of 17?-hydroxylase/17,20-lyase deficiency.
steroid 21-monooxygenase deficiency
Molecular basis of human 3 beta-hydroxysteroid dehydrogenase deficiency.
steroid 21-monooxygenase deficiency
Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan.
steroid 21-monooxygenase deficiency
Molecular characterization of 21-hydroxylase deficiency in 70 Italian families.
steroid 21-monooxygenase deficiency
Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Molecular characterization of a Leydig cell tumor presenting as congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a study of 27 families.
steroid 21-monooxygenase deficiency
Molecular diagnosis of 21-hydroxylase deficiency: detection of four mutations on a single gel.
steroid 21-monooxygenase deficiency
Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations.
steroid 21-monooxygenase deficiency
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.
steroid 21-monooxygenase deficiency
Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene.
steroid 21-monooxygenase deficiency
Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Molecular genetic analysis in 93 patients and 193 family members with Classical Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency in Croatia.
steroid 21-monooxygenase deficiency
Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.
steroid 21-monooxygenase deficiency
Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations.
steroid 21-monooxygenase deficiency
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
steroid 21-monooxygenase deficiency
Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization.
steroid 21-monooxygenase deficiency
Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras.
steroid 21-monooxygenase deficiency
Molecular genetics and the characterization of steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.
steroid 21-monooxygenase deficiency
Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Molecular pathology of steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Monitoring Medical Treatment in Adolescents and Young Adults with Congenital Adrenal Hyperplasia: Utility of Salivary 17alpha-Hydroxyprogesterone Day Profiles.
steroid 21-monooxygenase deficiency
Monitoring of menstrual cycles, ovulation, and adrenal suppression by saliva sampling in female patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Monitoring of therapy in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Monogenic and polygenic models detected in steroid 21-hydroxylase deficiency-related paediatric hyperandrogenism.
steroid 21-monooxygenase deficiency
Monozygotic twins with congenital adrenal hyperplasia: long-term endocrine evaluation and gene analysis.
steroid 21-monooxygenase deficiency
Morning salivary 17-hydroxyprogesterone is a useful screening test for nonclassical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany.
steroid 21-monooxygenase deficiency
Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood.
steroid 21-monooxygenase deficiency
Multiple pilomatricomas in association with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Multiple transcripts of the CYP21 gene are generated by the mutation of the splicing donor site in intron 2 from GT to AT in 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Multiplexed steroid profiling of gluco- and mineralocorticoids pathways using a liquid chromatography tandem mass spectrometry method.
steroid 21-monooxygenase deficiency
Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.
steroid 21-monooxygenase deficiency
Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Mutation Analysis of the CYP21A2 Gene in the Iranian Population.
steroid 21-monooxygenase deficiency
Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis.
steroid 21-monooxygenase deficiency
Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.
steroid 21-monooxygenase deficiency
Mutational analysis and genotype-phenotype correlation in patients with classic 21-hydroxylase deficiency from transylvania (north-west Romania).
steroid 21-monooxygenase deficiency
Mutational analysis of CYP21A2 gene and CYP21A1P pseudogene: long-range PCR on genomic DNA.
steroid 21-monooxygenase deficiency
Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.
steroid 21-monooxygenase deficiency
Mutational Characterization of Steroid 21-Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.
steroid 21-monooxygenase deficiency
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
steroid 21-monooxygenase deficiency
Mutations in the CYP21 B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing.
steroid 21-monooxygenase deficiency
Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
steroid 21-monooxygenase deficiency
Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan.
steroid 21-monooxygenase deficiency
Natural history of premature pubarche: an auxological study.
steroid 21-monooxygenase deficiency
Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China.
steroid 21-monooxygenase deficiency
Neonatal salt loss in the hypertensive form of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population.
steroid 21-monooxygenase deficiency
Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17-alpha-hydroxyprogesterone assay.
steroid 21-monooxygenase deficiency
Neonatal screening for congenital adrenal hyperplasia in Japan.
steroid 21-monooxygenase deficiency
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
steroid 21-monooxygenase deficiency
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study with 241,083 Infants
steroid 21-monooxygenase deficiency
Neonatal screening for congenital adrenal hyperplasia using a microfilter paper method for 17-alpha-hydroxyprogesterone radioimmunoassay. Experience gained from the study of 22,233 cases.
steroid 21-monooxygenase deficiency
Neonatal screening for congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone.
steroid 21-monooxygenase deficiency
Neonatal screening: identification of children with 11?-hydroxylase deficiency by second-tier testing.
steroid 21-monooxygenase deficiency
New developments in prenatal diagnosis of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
New ideas for medical treatment of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
New identified 15 beta-hydroxylated 21-deoxy-pregnanes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Newborn screening for 21-hydroxylase deficiency: results of CYP21 molecular genetic analysis.
steroid 21-monooxygenase deficiency
Newborn screening for congenital adrenal hyperplasia in Sapporo City: sixteen years experience.
steroid 21-monooxygenase deficiency
Newborn screening for congenital adrenal hyperplasia in Wisconsin.
steroid 21-monooxygenase deficiency
Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry.
steroid 21-monooxygenase deficiency
Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy.
steroid 21-monooxygenase deficiency
Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
steroid 21-monooxygenase deficiency
Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.
steroid 21-monooxygenase deficiency
NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
No evidence for a difference in 2D:4D ratio between youth with elevated prenatal androgen exposure due to congenital adrenal hyperplasia and controls.
steroid 21-monooxygenase deficiency
No overrepresentation of congenital adrenal hyperplasia in patients with adrenocortical tumours.
steroid 21-monooxygenase deficiency
Non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in families from a Greek island with a closed society.
steroid 21-monooxygenase deficiency
Non polycystic ovary syndrome-related endocrine disorders associated with hirsutism.
steroid 21-monooxygenase deficiency
Non-classic 21-hydroxylase deficiency in an 18-year-old female athlete. A case report
steroid 21-monooxygenase deficiency
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.
steroid 21-monooxygenase deficiency
Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency that Developed into Symptomatic Severe Hyponatremia.
steroid 21-monooxygenase deficiency
Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
steroid 21-monooxygenase deficiency
Non-Classic Disorder of Adrenal Steroidogenesis and Clinical Dilemmas in 21-Hydroxylase Deficiency Combined with Backdoor Androgen Pathway. Mini-Review and Case Report.
steroid 21-monooxygenase deficiency
Non-classical 21-hydroxylase deficiency in boys with prepubertal or pubertal gynecomastia.
steroid 21-monooxygenase deficiency
Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.
steroid 21-monooxygenase deficiency
Non-classical 21-hydroxylase deficiency in infancy and childhood: the effect of time of initiation of therapy on puberty and final height.
steroid 21-monooxygenase deficiency
Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review.
steroid 21-monooxygenase deficiency
Non-classical 21-hydroxylase deficiency: prevalence in males with unexplained abnormal sperm analysis.
steroid 21-monooxygenase deficiency
Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.
steroid 21-monooxygenase deficiency
Non-functioning adrenal incidentalomas caused by 21-hydroxylase deficiency or carrier status?
steroid 21-monooxygenase deficiency
Non-identical newborn twins with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman.
steroid 21-monooxygenase deficiency
Nonclassic adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Nonclassic congenital adrenal hyperplasia and the heterozygote carrier.
steroid 21-monooxygenase deficiency
Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome.
steroid 21-monooxygenase deficiency
Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?
steroid 21-monooxygenase deficiency
Nonclassic steroid 21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatal mass-screening program in Japan.
steroid 21-monooxygenase deficiency
NONCLASSICAL 21-HYDROXYLASE DEFICIENCY PRESENTED AS ADDISON'S DISEASE AND BILATERAL ADRENAL INCIDENTALOMAS.
steroid 21-monooxygenase deficiency
Nonclassical congenital adrenal hyperplasia and the polycystic ovarian syndrome.
steroid 21-monooxygenase deficiency
Nonclassical congenital adrenal hyperplasia: targets of treatment and transition.
steroid 21-monooxygenase deficiency
Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA.
steroid 21-monooxygenase deficiency
Nonisotopic detection of point mutations in CYP21B gene in steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Nonisotopic identification of two point mutations in the CYP21 gene responsible for nonclassic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Nonsense mutation causing steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype.
steroid 21-monooxygenase deficiency
Normal and elevated 3 alpha-androstanediol glucuronide concentrations in women with various causes of hirsutism and its correlation with degree of hirsutism and androgen levels.
steroid 21-monooxygenase deficiency
Normal bone mineral content in young adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Normal external genitalia in a female with classical congenital adrenal hyperplasia who was not treated during embryogenesis.
steroid 21-monooxygenase deficiency
Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Normal gestation and diminished androgen responsiveness in an untreated patient with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Normalization of height and excess body fat in children with salt-wasting 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
steroid 21-monooxygenase deficiency
Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.
steroid 21-monooxygenase deficiency
Nyctohemeral variation and suppressibility of plasma ACTH in various stages of Cushing's disease.
steroid 21-monooxygenase deficiency
Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Obesity and Cardiometabolic Risk Factors in Children and Young Adults With Non-classical 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Observation of hypertension in children with 21-hydroxylase deficiency: a preliminary report.
steroid 21-monooxygenase deficiency
Occurrence of a virilizing syndrome with 21-hydroxylase deficiency after pregnancy.
steroid 21-monooxygenase deficiency
Occurrence of male phenotype in genotypic females with congenital virilizing adrenal hyperplasia.
steroid 21-monooxygenase deficiency
On the origin of the elevated 17-hydroxyprogesterone levels after adrenal stimulation in hyperandrogenism.
steroid 21-monooxygenase deficiency
One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.
steroid 21-monooxygenase deficiency
One-year clinical evaluation of single morning dose prednisolone therapy for 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Ontogeny of adrenal steroid biosynthesis: why girls will be girls.
steroid 21-monooxygenase deficiency
Oral hydrocortisone administration in children with classic 21-hydroxylase deficiency leads to more synchronous joint GH and cortisol secretion.
steroid 21-monooxygenase deficiency
Organization of the chimpanzee C4-CYP21 region: implications for the evolution of human genes.
steroid 21-monooxygenase deficiency
OSTEOCLASTOGENESIS IN CHILDREN WITH 21-HYDROXYLASE DEFICIENCY ON LONG TERM GLUCOCORTICOID THERAPY: THE ROLE OF RANKL/OPG IMBALANCE.
steroid 21-monooxygenase deficiency
Ovarian 'tumor' of the adrenogenital syndrome: the first reported case.
steroid 21-monooxygenase deficiency
Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy.
steroid 21-monooxygenase deficiency
Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women.
steroid 21-monooxygenase deficiency
Ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal hirsute woman.
steroid 21-monooxygenase deficiency
Ovarian Steroid Cell Tumor Masquerading as Steroid-Unresponsive Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Ovarian steroid cell tumor, not otherwise specified, associated with congenital adrenal hyperplasia: rare tumors of an endocrine disease.
steroid 21-monooxygenase deficiency
Ovarian steroidogenesis in an adrenalectomized girl with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Ovarian suppression reduces clinical and endocrine expression of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Ovarian suppression with triptorelin and adrenal stimulation with adrenocorticotropin in functional hyperadrogenism: role of adrenal and ovarian cytochrome P450c17 alpha.
steroid 21-monooxygenase deficiency
p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.
steroid 21-monooxygenase deficiency
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
P450 Oxidoreductase Deficiency: loss of activity caused by protein instability from a novel L374H mutation.
steroid 21-monooxygenase deficiency
Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population.
steroid 21-monooxygenase deficiency
Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency can achieve their target height: the Leipzig experience.
steroid 21-monooxygenase deficiency
Performance of Phalangeal Quantitative Ultrasound Parameters in the Evaluation of Reduced Bone Mineral Density Assessed By DX in Patients with 21 Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Perioperative care of congenital adrenal hyperplasia - a disparity of physician practices in Canada.
steroid 21-monooxygenase deficiency
Persistent insulin resistance after normalization of androgen levels in a woman with congenital adrenal hyperplasia. A case report.
steroid 21-monooxygenase deficiency
Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Pharmacologic suppression of the fetal adrenal gland in utero. Attempted prevention of abnormal external genital masculinization in suspected congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Pharmacological agents in pregnancy to improve fetal conditions: prevention of fetal cardiac insufficiency, consequences of congenital adrenal hyperplasia and respiratory distress syndrome.
steroid 21-monooxygenase deficiency
Phenotype and genotype in untreated 21-hydroxylase deficient Indonesian patients.
steroid 21-monooxygenase deficiency
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
steroid 21-monooxygenase deficiency
Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.
steroid 21-monooxygenase deficiency
Phenotypic evolution of classic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Phenotypic Profiling of Parents with Cryptic Nonclassic Congenital Adrenal Hyperplasia: Findings in 145 Unrelated Families.
steroid 21-monooxygenase deficiency
Pigmented adrenal hyperplasia with myelolipomatous changes and bilateral testicular enlargement in an untreated man with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Pitfall of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Pitfalls in prenatal diagnosis of 21-hydroxylase deficiency by amniotic fluid steroid analysis? A six years experience in 102 pregnancies at risk.
steroid 21-monooxygenase deficiency
Pitfalls of PCR-based genotyping in patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Pituitary gonadal axis and child rate in males with classical 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Pituitary-adrenal axis activity in treated congenital adrenal hyperplasia: static and dynamic studies.
steroid 21-monooxygenase deficiency
Pituitary-adrenal responses to corticotropin-releasing factor in late onset 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Pituitary-adrenal responses to corticotropin-releasing hormone in different degrees of adrenal 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Plasma 11beta-hydroxy-4-androstene-3,17-dione: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunoassay using a tritiated tracer.
steroid 21-monooxygenase deficiency
Plasma 21-deoxycortisol: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunossay using (125)iodine.
steroid 21-monooxygenase deficiency
Plasma 3 alpha-androstanediol glucuronide in normal children and in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Plasma 3 beta-hydroxy-delta 5-steroids in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Plasma adrenocorticotrophic hormone in congenital adrenal hyperplasia. Importance in long-term management.
steroid 21-monooxygenase deficiency
Plasma aldosterone concentrations related to 17alpha-hydroxyprogesterone in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Plasma homocysteine levels in polycystic ovary syndrome and congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Plasma levels of androgens and 17 alpha-OH-progesterone as an index of the adequacy of treatment in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Plasma levels of C19 steroid glucuronides in pre-menopausal women with non-classical congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Plasma metabolomic profile varies with glucocorticoid dose in patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Polycythemia in a patient with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population.
steroid 21-monooxygenase deficiency
Possible genetic linkage disequilibrium between HLA and the 21-hydroxylase deficiency gene (congenital adrenal hyperplasia).
steroid 21-monooxygenase deficiency
Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.
steroid 21-monooxygenase deficiency
Posterior fusion without clitoromegaly in a female with partial 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Postmortem diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia: medico-legal issues.
steroid 21-monooxygenase deficiency
Postnatal virilization mimicking 21-hydroxylase deficiency in 3 very premature infants.
steroid 21-monooxygenase deficiency
Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Pre-pubertal gynaecomastia as the presenting feature of late-onset 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Precocious puberty with hypothalamic hamartoma and non classical form of congenital adrenal hyperplasia. Report of two cases.
steroid 21-monooxygenase deficiency
Pregnancy outcomes in women with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Pregnanetriol in the Range of 1.2-2.1 mg/m(2)/day as an Index of Optimal Control in CYP21A2 Deficiency.
steroid 21-monooxygenase deficiency
Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening.
steroid 21-monooxygenase deficiency
Pregnenolone, 17-OH-pregnenolone, and testosterone in plasma of patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Prenatal and neonatal diagnosis and treatment of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Prenatal dexamethasone treatment in pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: effect on midgestational amniotic fluid steroid levels.
steroid 21-monooxygenase deficiency
Prenatal Dexamethasone Use For The Prevention Of Virilization In Pregnancies At Risk For Classical Congenital Adrenal Hyperplasia due to 21 hydroxylase (CYP21A2) deficiency: A Systematic Review And Meta-Analyses.
steroid 21-monooxygenase deficiency
Prenatal diagnosis and management of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.
steroid 21-monooxygenase deficiency
Prenatal diagnosis and treatment of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prenatal diagnosis and treatment of adrenogenital syndrome (steroid 21-hydroxylase deficiency).
steroid 21-monooxygenase deficiency
Prenatal diagnosis and treatment of congenital adrenal hyperplasia and consequences in adults.
steroid 21-monooxygenase deficiency
Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prenatal diagnosis and treatment of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
steroid 21-monooxygenase deficiency
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of 21-hydroxylase deficiency by RFLP analysis of the 21-hydroxylase, complement C4, and HLA class II genes.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia by simultaneous radioimmunoassay of 21-deoxycortisol and 17-hydroxyprogesterone in amniotic fluid.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of a heterozygote of salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency by genetic linkage analysis.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of congenital adrenal hyperplasia (21-OH deficiency type) by HLA typing.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: comparison with HLA typing in 17 pregnancies at risk for CAH.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of congenital adrenal hyperplasia caused by p450 oxidoreductase deficiency.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by amniotic fluid steroid analysis.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency with DNA analysis.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of steroid 21-hydroxylase deficiency by analysis of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) profiles.
steroid 21-monooxygenase deficiency
Prenatal diagnosis of steroid 21-hydroxylase deficiency by the modified polymerase chain reaction to detect splice site mutation in the CYP21 gene.
steroid 21-monooxygenase deficiency
Prenatal diagnosis/treatment in families at risk for infants with steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
steroid 21-monooxygenase deficiency
Prenatal DNA analysis in four embryos/fetuses at risk of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prenatal fetal adrenal suppression following in utero diagnosis of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study.
steroid 21-monooxygenase deficiency
Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a 10 year experience.
steroid 21-monooxygenase deficiency
Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prenatal treatment of congenital adrenal hyperplasia-not standard of care.
steroid 21-monooxygenase deficiency
Prenatal treatment of congenital adrenal hyperplasia. The United States experience.
steroid 21-monooxygenase deficiency
Prenatal treatment of congenital adrenal hyperplasia: report of a new case.
steroid 21-monooxygenase deficiency
Prepubertal acne: a cutaneous marker of androgen excess?
steroid 21-monooxygenase deficiency
Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas.
steroid 21-monooxygenase deficiency
Prevalence and Long-term Follow-up Outcomes of Testicular Adrenal Rest Tumors in Children and Adolescent Males with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Prevalence of adrenal 21-hydroxylase deficiency in neonates born in the West Midlands: a retrospective study.
steroid 21-monooxygenase deficiency
Prevalence of late-onset adrenal hyperplasia in postmenarchal hirsutism.
steroid 21-monooxygenase deficiency
Prevalence of non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with acne: a hospital-based cross-sectional study.
steroid 21-monooxygenase deficiency
Prevalence of nonclassical congenital adrenal hyperplasia among women self-referred for electrolytic treatment of hirsutism.
steroid 21-monooxygenase deficiency
Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small sample study.
steroid 21-monooxygenase deficiency
Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with Its Development in Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
steroid 21-monooxygenase deficiency
Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected.
steroid 21-monooxygenase deficiency
Primary infertility in 45-year-old man with untreated 21-hydroxylase deficiency: successful outcome with glucocorticoid therapy.
steroid 21-monooxygenase deficiency
Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Problems in diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Production of 11-oxygenated androgens by testicular adrenal rest tumors.
steroid 21-monooxygenase deficiency
Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Profiles of ligands of sex hormone binding globulin in human serum.
steroid 21-monooxygenase deficiency
Profiling steroid hormones in amniotic fluid of midpregnancy by routine stable isotope dilution/gas chromatography-mass spectrometry: reference values and concentrations in fetuses at risk for 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Prolonged activation of hypothalamo-pituitary-ovarian axis during early infancy in female patients with salt-losing 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Protein kinase A, protein kinase C, and Ca(2+)-regulated expression of 21-hydroxylase cytochrome P450 in H295R human adrenocortical cells.
steroid 21-monooxygenase deficiency
Pseudogene/functional gene ratio in late-onset 21-hydroxylase-deficient adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Psychological vulnerability to stress in carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Psychosexual development and quality of life outcomes in females with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency.
steroid 21-monooxygenase deficiency
Puberty and fertility in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes.
steroid 21-monooxygenase deficiency
Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE).
steroid 21-monooxygenase deficiency
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency.
steroid 21-monooxygenase deficiency
Quality of life, social situation, and sexual satisfaction, in adult males with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Quantitation of 17-OH-progesterone (OHPG) for diagnosis of congenital adrenal hyperplasia (CAH).
steroid 21-monooxygenase deficiency
Quantitative MRI brain in congenital adrenal hyperplasia: in vivo assessment of the cognitive and structural impact of steroid hormones.
steroid 21-monooxygenase deficiency
R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
steroid 21-monooxygenase deficiency
Radioimmunoassay for 21-deoxycortisol: clinical applications.
steroid 21-monooxygenase deficiency
Radioimmunoassay of urinary 21-deoxytetrahydroaldosterone in primary aldosteronism and 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Randomised controlled trial of growth effect of hydrocortisone in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene.
steroid 21-monooxygenase deficiency
Rapid detection of 21-hydroxylase deficiency mutations by allele-specific in vitro amplification and capillary zone electrophoresis.
steroid 21-monooxygenase deficiency
Rapid identification of deoxyribonucleic acid sequence differences in cytochrome P-450 21-hydroxylase (CYP21) genes with denaturing gradient gel blots.
steroid 21-monooxygenase deficiency
Rapid monitoring assay of congenital adrenal hyperplasia with microbore high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots.
steroid 21-monooxygenase deficiency
Rapid screening assay of congenital adrenal hyperplasia by measuring 17 alpha-hydroxyprogesterone with high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots.
steroid 21-monooxygenase deficiency
Rapid screening method for detecting mutations in the 21-hydroxylase gene.
steroid 21-monooxygenase deficiency
Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase.
steroid 21-monooxygenase deficiency
Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Rapid single nucleotide polymorphism analysis by primer extension and capillary electrophoresis using polyvinyl pyrrolidone matrix.
steroid 21-monooxygenase deficiency
Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report.
steroid 21-monooxygenase deficiency
Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review.
steroid 21-monooxygenase deficiency
Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Real World Estimates Of Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Reassessment of predictive values of ACTH-stimulated serum 21-deoxycortisol and 17-hydroxyprogesterone to identify CYP21A2 heterozygote carriers and nonclassic subjects.
steroid 21-monooxygenase deficiency
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update.
steroid 21-monooxygenase deficiency
Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital.
steroid 21-monooxygenase deficiency
Recurrent hepatocellular carcinoma and non-classic adreno-genital syndrome.
steroid 21-monooxygenase deficiency
Reduced bone mineral density and increased bone metabolism rate in young adult patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Reduced Frequency of Biological and Increased Frequency of Adopted Children in Males with 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.
steroid 21-monooxygenase deficiency
Reduced need of glucocorticoid therapy in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency during pregnancy.
steroid 21-monooxygenase deficiency
Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.
steroid 21-monooxygenase deficiency
Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.
steroid 21-monooxygenase deficiency
Regulation of the mineralocorticoid hormones in adrenocortical disorders with adrenocorticotropin excess.
steroid 21-monooxygenase deficiency
Reinstitution of mineralocorticoid therapy in congenital adrenal hyperplasia. Effects on control and growth.
steroid 21-monooxygenase deficiency
Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.
steroid 21-monooxygenase deficiency
Relationships of basal level of serum 17-hydroxyprogesterone with that of serum androstenedione and their stimulated responses to a low dose of ACTH in young adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Reproductive and Perinatal Outcomes in Women with Congenital Adrenal Hyperplasia: A Population-based Cohort Study.
steroid 21-monooxygenase deficiency
Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency.
steroid 21-monooxygenase deficiency
Response to Letter to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline".
steroid 21-monooxygenase deficiency
Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice.
steroid 21-monooxygenase deficiency
Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Restriction fragment length polymorphism study of families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Taiwan.
steroid 21-monooxygenase deficiency
Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo.
steroid 21-monooxygenase deficiency
Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Reversed-phase high-performance liquid chromatography separation of adrenal steroids prior to radioimmunoassay: application in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Reversible infertility in a man with 21-hydroxylase deficiency congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Reversible male infertility due to congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Reversible male infertility in late onset congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Review: fetal programming of polycystic ovary syndrome by androgen excess: evidence from experimental, clinical, and genetic association studies.
steroid 21-monooxygenase deficiency
Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.
steroid 21-monooxygenase deficiency
RFLPs of 21-hydroxylase and C4 genes: application to pedigree analysis on 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Risk factors for hospitalization of children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Role of Body Weight in the Onset and the Progression of Idiopathic Premature Pubarche.
steroid 21-monooxygenase deficiency
Salivary and plasma androstenedione and 17-hydroxyprogesterone levels in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Salivary morning androstenedione and 17?-OH progesterone levels in childhood and puberty in patients with classic congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "Mild" Mutations.
steroid 21-monooxygenase deficiency
Salt-losing form of 21-hydroxylase deficiency accompanied by hypopituitarism in a boy.
steroid 21-monooxygenase deficiency
Salt-wasting 21-hydroxylase deficiency congenital adrenal hyperplasia and pyloric stenosis in two Hispanic brothers.
steroid 21-monooxygenase deficiency
Salt-wasting congenital adrenal hyperplasia: detection of mutations in CYP21B gene in a Chilean population.
steroid 21-monooxygenase deficiency
Sample-multiplexing by derivatization using multiple analogous reagents for enhancing throughput in LC/ESI-MS/MS assay of steroids: Plasma 17?-hydroxyprogesterone as an example.
steroid 21-monooxygenase deficiency
Screening for late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Screening for neonatal endocrinopathies: rationale, methods and results.
steroid 21-monooxygenase deficiency
Screening for non-classic 21-hydroxylase deficiency in an HLA-B14 positive population.
steroid 21-monooxygenase deficiency
Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack of utility of the adrenocorticotropin hormone test.
steroid 21-monooxygenase deficiency
Screening Human Genes for Small Alterations Performing an Enzymatic Cleavage Mismatched Analysis (ECMA) Protocol.
steroid 21-monooxygenase deficiency
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
steroid 21-monooxygenase deficiency
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Second-tier testing for 21-hydroxylase deficiency in the Netherlands; a newborn screening pilot study.
steroid 21-monooxygenase deficiency
Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Sequential use of hydrocortisone and dexamethasone in prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Serum 17-hydroxypregnenolone and 17-hydroxypregnenolone sulfate concentrations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Serum 3 alpha-androstanediol glucuronide measurements in children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Serum 3 alpha-androstanediol glucuronide measurements in sexually mature women with congenital adrenal hyperplasia during therapy.
steroid 21-monooxygenase deficiency
Serum androgen concentrations in neonates and young infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory?
steroid 21-monooxygenase deficiency
Serum cortisol in adrenal hirsutism as estimated by five different methods.
steroid 21-monooxygenase deficiency
Serum leptin levels in patients with 21-hydroxylase deficiency before and after treatment.
steroid 21-monooxygenase deficiency
Serum levels of 5-androstene-3 beta,17 beta-diol sulphate, 5 alpha-androstane-3 alpha, 17beta-diol sulphate and glucuronide, in late onset 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Serum steroid hormonal profiles by reversed-phase liquid chromatography in patients with 17-hydroxylase deficiency and in an affected family.
steroid 21-monooxygenase deficiency
Serum total testosterone levels in a patient with late onset 21-hydroxylase deficiency and a twin gestation.
steroid 21-monooxygenase deficiency
Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life.
steroid 21-monooxygenase deficiency
Severe Salt-Losing 3?-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
steroid 21-monooxygenase deficiency
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum.
steroid 21-monooxygenase deficiency
Severe virilization in a girl with a steroid cell tumor of the ovary.
steroid 21-monooxygenase deficiency
Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Sexual dimorphism in the synchrony of joint growth hormone and cortisol dynamics in children with classic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Sexual function and fertility in adult females and males with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception.
steroid 21-monooxygenase deficiency
Sexual orientation of 46, XX patients with congenital adrenal hyperplasia: a descriptive review.
steroid 21-monooxygenase deficiency
Sexual well-being in adult male patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Sharing of MHC haplotypes among apparently unrelated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Should 21-hydroxylase deficiency genotyping be considered in assisted reproductive technology programs?
steroid 21-monooxygenase deficiency
Siblings of 21-hydroxylase deficiency (non-salt-losing) with aldosterone hypersecretion.
steroid 21-monooxygenase deficiency
Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases.
steroid 21-monooxygenase deficiency
Single-Dose Study of a Corticotropin-Releasing Factor Receptor-1 Antagonist in Women With 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Sodium chloride supplement at diagnosis and during infancy in children with salt-losing 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Sonography in prenatal diagnosis of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Source localization of androgen excess in adolescent girls.
steroid 21-monooxygenase deficiency
Spatial function in adolescents and young adults with congenital adrenal hyperplasia: Clinical phenotype and implications for the androgen hypothesis.
steroid 21-monooxygenase deficiency
Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Spontaneous cortisol and growth hormone secretion interactions in patients with nonclassic 21-hydroxylase deficiency (NCCAH) and control children.
steroid 21-monooxygenase deficiency
Spontaneous thyrotropin and cortisol secretion interactions in patients with nonclassical 21-hydroxylase deficiency and control children.
steroid 21-monooxygenase deficiency
Steroid 17-hydroxyprogesterone in hair is a potential long-term biomarker of androgen control in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236n/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein.
steroid 21-monooxygenase deficiency
Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene.
steroid 21-monooxygenase deficiency
Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
steroid 21-monooxygenase deficiency
Steroid 21-hydroxylase deficiency and the major histocompatibility complex.
steroid 21-monooxygenase deficiency
Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.
steroid 21-monooxygenase deficiency
Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis.
steroid 21-monooxygenase deficiency
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
steroid 21-monooxygenase deficiency
Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.
steroid 21-monooxygenase deficiency
Steroid 21-hydroxylase expression and activity in human lymphocytes.
steroid 21-monooxygenase deficiency
STEROID 21-HYDROXYLASE GENE MUTATIONAL SPECTRUM IN 454 ARGENTINEAN PATIENTS: GENOTYPE-PHENOTYPE CORRELATION IN A LARGE COHORT OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA.
steroid 21-monooxygenase deficiency
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms.
steroid 21-monooxygenase deficiency
Steroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors.
steroid 21-monooxygenase deficiency
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.
steroid 21-monooxygenase deficiency
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess.
steroid 21-monooxygenase deficiency
Steroid excretion patterns in urine from two boys in the neonatal period with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Steroid responses to ACTH in women with polycystic ovaries.
steroid 21-monooxygenase deficiency
Steroid spectrum in human urine as revealed by gas chromatography. IV. Changes in the exception of 16-oxygenated neutral steroids by children with 21-hydroxylase deficiency during different stages of development.
steroid 21-monooxygenase deficiency
Steroidogenic enzyme activities, morphology, and receptor studies of a testicular adrenal rest in a patient with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Steroidogenic enzyme expression within the adrenal cortex during early human gestation.
steroid 21-monooxygenase deficiency
Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 2. Characterization, using GC-MS and GC-MS/MS, of pregnanes and pregnenes with an oxo- group on the A- or B-ring.
steroid 21-monooxygenase deficiency
Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 3. Characterization, using GC-MS and GC-MS/MS, of androstanes and androstenes.
steroid 21-monooxygenase deficiency
Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 4. Characterization, using GC-MS and GC-MS/MS, of 11oxo-pregnanes and 11oxo-pregnenes.
steroid 21-monooxygenase deficiency
Steroids excreted in urine by neonates with 21-hydroxylase deficiency: Characterization, using GC-MS and GC-MS/MS, of the D-ring and side chain structure of pregnanes and pregnenes.
steroid 21-monooxygenase deficiency
Stigma Associated with Classical Congenital Adrenal Hyperplasia in Women's Sexual Lives.
steroid 21-monooxygenase deficiency
Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
steroid 21-monooxygenase deficiency
Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.
steroid 21-monooxygenase deficiency
Studies of the C-21 and C-19 steroids and HLA genotyping in siblings and parents of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Study of a kindred with classic congenital adrenal hyperplasia: diagnostic challenge due to phenotypic variance.
steroid 21-monooxygenase deficiency
Study of three patients with congenital adrenal hyperplasia treated by bilateral adrenalectomy.
steroid 21-monooxygenase deficiency
Subnormal androgen and elevated progesterone levels in women treated for congenital virilizing 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in sweden.
steroid 21-monooxygenase deficiency
Substitution therapy in adult patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation.
steroid 21-monooxygenase deficiency
Success of glucocorticoid replacement therapy on fertility in two adult males with 21-CAH homozygote classic form.
steroid 21-monooxygenase deficiency
Successful pregnancy after the treatment of primary amenorrhea in a patient with non-classical congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Successful prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Successful prenatal treatment of congenital adrenal hyperplasia resulting from the 21-hydroxylase deficiency: is prenatal diagnosis in a mother at risk essential?
steroid 21-monooxygenase deficiency
Successful treatment with ICSI of infertility caused by azoospermia associated with adrenal rests in the testes: case report.
steroid 21-monooxygenase deficiency
Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Survival of steroid 21-hydroxylase-deficient mice without endogenous corticosteroids after neonatal treatment and genetic rescue by transgenesis as a model system for treatment of congenital adrenal hyperplasia in humans.
steroid 21-monooxygenase deficiency
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Synthesis and application of circularizable ligation probes.
steroid 21-monooxygenase deficiency
TaqI HLA-B and -DRB RFLP analysis can predict disease in siblings of affected children with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Temporal and individual variations in the dose of glucocorticoid used for the treatment of salt-losing congenital virilizing adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.
steroid 21-monooxygenase deficiency
Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Testicular adrenal rest "tumor" or Leydig cell tumor? A report of a challenging case with literature review.
steroid 21-monooxygenase deficiency
Testicular adrenal rest hyperplasia due to 21-hydroxylase deficiency: a case report.
steroid 21-monooxygenase deficiency
Testicular Adrenal Rest Tumor In Brothers With Novel Mutation In 3-Beta Hydroxysteroid Dehydrogenase -2 Gene.
steroid 21-monooxygenase deficiency
Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review.
steroid 21-monooxygenase deficiency
Testicular adrenal rest tumor screening and fertility counseling among males with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Testicular adrenal rest tumors develop independently of long-term disease control: A longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients.
steroid 21-monooxygenase deficiency
Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up.
steroid 21-monooxygenase deficiency
Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients.
steroid 21-monooxygenase deficiency
Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
steroid 21-monooxygenase deficiency
Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies).
steroid 21-monooxygenase deficiency
Testicular adrenal rest tumours in young adult males with congenital adrenal hyperplasia: prevalence and impact on testicular function.
steroid 21-monooxygenase deficiency
Testicular adrenal rests: evidence for luteinizing hormone receptors and for distinct types of testicular nodules differing for their autonomization.
steroid 21-monooxygenase deficiency
Testicular adrenal-like tissue (TALT) in congenital adrenal hyperplasia: detection by ultrasonography.
steroid 21-monooxygenase deficiency
Testicular adrenal-like tissue in a patient with 17 alpha-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Testicular enlargement in patients with 11-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Testicular tumors in congenital adrenal hyperplasia: steroid measurements from adrenal and spermatic veins.
steroid 21-monooxygenase deficiency
Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue.
steroid 21-monooxygenase deficiency
Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome.
steroid 21-monooxygenase deficiency
Testosterone-secreting virilizing adrenal adenoma with human chorionic gonadotrophin receptors and 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The 11?-hydroxysteroid dehydrogenase isoforms: pivotal catalytic activities yield potent C11-oxy C19 steroids with 11?HSD2 favouring 11-ketotestosterone, 11-ketoandrostenedione and 11-ketoprogesterone biosynthesis.
steroid 21-monooxygenase deficiency
The activities of 5?-reductase and 17,20-lyase determine the direction through androgen synthesis pathways in patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred--an estimate based on a public neonatal screening program in the state of Goiás.
steroid 21-monooxygenase deficiency
The Application of Principal Component Analysis on Clinical and Biochemical Parameters Exemplified in Children With Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
The attenuated form of congenital adrenal hyperplasia as an allelic form of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The balance of cortisol-cortisone interconversion is shifted towards cortisol in neonates with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The biochemical basis for genotyping 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The Classic and Nonclassic Congenital Adrenal Hyperplasias.
steroid 21-monooxygenase deficiency
The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The coexistence of IgA deficiency and 21-hydroxylase deficiency marked by specific MHC supratypes.
steroid 21-monooxygenase deficiency
The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
The complications of surgery for intersex: changing patterns over two decades.
steroid 21-monooxygenase deficiency
The constant plasma 18-hydroxycorticosterone to aldosterone ratio: an expression of the efficacy of corticosterone methyloxidase type II activity in disorders with variable aldosterone production.
steroid 21-monooxygenase deficiency
The Cycle Characteristics and Outcomes of Infertile Nonclassic 21-Hydroxylase Deficiency Patients Undergoing Ovarian Stimulation for In Vitro Fertilization.
steroid 21-monooxygenase deficiency
The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene.
steroid 21-monooxygenase deficiency
The diagnosis of 21-hydroxylase deficiency in a prematurely born infant on the basis of the urinary steroid excretion pattern.
steroid 21-monooxygenase deficiency
The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.
steroid 21-monooxygenase deficiency
The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia.
steroid 21-monooxygenase deficiency
The early recognition of the 21-hydroxylase deficiency variety of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
The effect of long acting glucocorticoids on menstrual abnormalities in patients with virilizing congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
The endocrine pattern of late onset adrenal hyperplasia (21-hydroxylase deficiency).
steroid 21-monooxygenase deficiency
The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.
steroid 21-monooxygenase deficiency
The frequency of 21-alpha hydroxylase enzyme deficiency and related sex hormones in Iraqi healthy male subjects versus patients with acne vulgaris.
steroid 21-monooxygenase deficiency
The Frequency of CYP 21 Gene Mutations in Turkish Women with Hyperandrogenism.
steroid 21-monooxygenase deficiency
The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The HLA associations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a Yugoslav population.
steroid 21-monooxygenase deficiency
The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region.
steroid 21-monooxygenase deficiency
The hypothalamic-pituitary-adrenal axis in partial (late-onset) 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The immunological detection of a 21-OH deficiency mutation HLA supratype.
steroid 21-monooxygenase deficiency
The impact of 21-hydroxylase deficiency on cardiac repolarization changes in children with 21-hydroxylasedeficient congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family.
steroid 21-monooxygenase deficiency
The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses.
steroid 21-monooxygenase deficiency
The in vitro metabolism of 11?-hydroxyprogesterone and 11-ketoprogesterone to 11-ketodihydrotestosterone in the backdoor pathway.
steroid 21-monooxygenase deficiency
The incidence of congenital adrenal hyperplasia in Switzerland--a survey of patients born in 1960 to 1974.
steroid 21-monooxygenase deficiency
The incidence of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency among hirsute women.
steroid 21-monooxygenase deficiency
The incidence of non-classical 21-hydroxylase deficiency in hirsute adolescent girls.
steroid 21-monooxygenase deficiency
The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene.
steroid 21-monooxygenase deficiency
The influence of prenatal dexamethasone treatment on urinary excretion of adrenocortical steroids in newborns.
steroid 21-monooxygenase deficiency
The interaction of plasma renin activity and plasma atrial natriuretic peptide in 21-hydroxylase deficiency patients.
steroid 21-monooxygenase deficiency
The management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The masculinized female and investigation of abnormal sexual development.
steroid 21-monooxygenase deficiency
The measurement of 11 beta-hydroxy-4-pregnene-3,20-dione (21-deoxycorticosterone) by radioimmunoassay in human plasma.
steroid 21-monooxygenase deficiency
The midgrowth spurt in healthy children is not caused by adrenarche.
steroid 21-monooxygenase deficiency
The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene.
steroid 21-monooxygenase deficiency
The occurrence of neonatal acute respiratory disorders in 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
steroid 21-monooxygenase deficiency
The pitfalls associated with urinary steroid metabolite ratios in children undergoing investigations for suspected disorders of steroid synthesis.
steroid 21-monooxygenase deficiency
The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene.
steroid 21-monooxygenase deficiency
The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations.
steroid 21-monooxygenase deficiency
The prevalence of 21-hydroxylase deficiency in adrenal incidentalomas - hormonal and mutation screening.
steroid 21-monooxygenase deficiency
The prevalence of 5 alpha-reductase deficiency in children with ambiguous genitalia in the Dominican Republic.
steroid 21-monooxygenase deficiency
The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both.
steroid 21-monooxygenase deficiency
The prevalence of hyperandrogenism in 109 consecutive female patients with diffuse alopecia.
steroid 21-monooxygenase deficiency
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism.
steroid 21-monooxygenase deficiency
The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome.
steroid 21-monooxygenase deficiency
The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
The prevalence, molecular analysis and HLA typing of late-onset 21-hydroxylase deficiency in Turkish woman with hirsutism and polycystic ovary.
steroid 21-monooxygenase deficiency
The progression of salt wasting and the body weight change during the first two weeks of life in classical 21-hydroxylase deficiency patients.
steroid 21-monooxygenase deficiency
The Range of 2.2-3.3 mg/gCr of Pregnanetriol in the First Morning Urine Sample as an Index of Optimal Control in CYP21 Deficiency.
steroid 21-monooxygenase deficiency
The ratio of androstenedione:11 beta-hydroxyandrostenedione is an important marker of adrenal androgen excess in women.
steroid 21-monooxygenase deficiency
The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The Recalled Childhood Gender Questionnaire-Revised: a psychometric analysis in a sample of women with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
The relationship of carotid intima-media thickness with anthropometric and metabolic parameters in patients with classic congenital adrenal hyperplasia
steroid 21-monooxygenase deficiency
The response of several adrenocortical steroids to the administration of ACTH in hirsute women.
steroid 21-monooxygenase deficiency
The Rise, Fall, and Resurrection of 11-Oxygenated Androgens in Human Physiology and Disease.
steroid 21-monooxygenase deficiency
The risk of functional ovarian hyperandrogenism and polycystic ovary syndrome in patients with hyperandrogenism.
steroid 21-monooxygenase deficiency
The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience.
steroid 21-monooxygenase deficiency
The role of adrenocorticotropin testing in evaluating girls with premature adrenarche and hirsutism/oligomenorrhea.
steroid 21-monooxygenase deficiency
The role of heterozygosity for CYP21 in the polycystic ovary syndrome.
steroid 21-monooxygenase deficiency
The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.
steroid 21-monooxygenase deficiency
The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.
steroid 21-monooxygenase deficiency
The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
The steroid response to controlled adrenal stimulation in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients.
steroid 21-monooxygenase deficiency
The urinary steroidome of treated children with classic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
The use of gamma interferon to increase HLA antigen expression on cultured amniotic cells used for the prenatal diagnosis of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Theca function in polycystic ovaries of a patient with virilizing congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype.
steroid 21-monooxygenase deficiency
Therapy monitoring in congenital adrenal hyperplasia by dried blood samples.
steroid 21-monooxygenase deficiency
Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan.
steroid 21-monooxygenase deficiency
Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
steroid 21-monooxygenase deficiency
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.
steroid 21-monooxygenase deficiency
Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Tildacerfont in Adults with Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies.
steroid 21-monooxygenase deficiency
Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland.
steroid 21-monooxygenase deficiency
Transient central precocious puberty in non-classic 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Transvaginal ultrasound detection of multifollicular ovaries in non-hirsute ovulatory women.
steroid 21-monooxygenase deficiency
Treatment and disease effects on short-term growth and adult height in children and adolescents with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Treatment and outcome of congenital adrenal hyperplasia: 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Treatment of adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a clinical practice audit.
steroid 21-monooxygenase deficiency
Treatment with dexamethasone of androgen excess in adolescent patients.
steroid 21-monooxygenase deficiency
Treatment with flutamide decreases cortisol clearance: implications for therapy in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Treatment with growth hormone and luteinizing hormone releasing hormone analog improves final adult height in children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Tumors of the adrenogenital syndrome: an aggressive conservative approach.
steroid 21-monooxygenase deficiency
Two adults with adrenal myelolipoma and 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Two brothers with non-classical 21-hydroxylase deficiency: to treat or not to treat?
steroid 21-monooxygenase deficiency
Two girls with a neonatal screening-negative 21-hydroxylase deficiency requiring treatment with hydrocortisone for virilization in late childhood.
steroid 21-monooxygenase deficiency
Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation.
steroid 21-monooxygenase deficiency
Two Siblings with the Same Severe Form of 21-Hydroxylase Deficiency But Different Growth and Menstrual Cycle Patterns.
steroid 21-monooxygenase deficiency
Two-Step Biochemical Differential Diagnosis of Classic 21-Hydroxylase Deficiency and Cytochrome P450 Oxidoreductase Deficiency in Japanese Infants by GC-MS Measurement of Urinary Pregnanetriolone/ Tetrahydroxycortisone Ratio and 11?-Hydroxyandrosterone.
steroid 21-monooxygenase deficiency
Typical characteristics of children with congenital adrenal hyperplasia due to 11?-hydroxylase deficiency: a single-centre experience and review of the literature.
steroid 21-monooxygenase deficiency
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.
steroid 21-monooxygenase deficiency
Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.
steroid 21-monooxygenase deficiency
Unilateral testicular enlargement resulting from inapparent 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Uniparental disomy as a cause of pediatric endocrine disorders.
steroid 21-monooxygenase deficiency
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.
steroid 21-monooxygenase deficiency
Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency confirmed by HLA tissue typing.
steroid 21-monooxygenase deficiency
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Update on adrenal steroid hormone biosynthesis and clinical implications.
steroid 21-monooxygenase deficiency
Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Urinary 17 alpha-hydroxyprogesterone in management of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Urinary 6-sulfatoxymelatonin excretion in hyperandrogenic women: the effect of cyproterone acetate-ethinyl estradiol treatment.
steroid 21-monooxygenase deficiency
Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Urinary excretion of aldosterone metabolite Kelly-M1 in patients with adrenal dysfunction.
steroid 21-monooxygenase deficiency
Urinary GC-MS steroid metabotyping in treated children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Urinary pregnanetriol-3-glucuronide in children: age-related change and application to the management of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Urinary steroidomic profiles by LC-MS/MS to monitor classic 21-Hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Use of an aromatase inhibitor in children with congenital adrenal hyperplasia: Impact of anastrozole on bone mineral density and visceral adipose tissue.
steroid 21-monooxygenase deficiency
Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Use of PET/CT with Cosyntropin Stimulation to Identify and Localize Adrenal Rest Tissue following Adrenalectomy in a Woman with Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Usefulness of an ACTH test in the diagnosis of nonclassical 21-hydroxylase deficiency among children presenting with premature pubarche.
steroid 21-monooxygenase deficiency
Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population.
steroid 21-monooxygenase deficiency
Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Vaginoplasty using the inner surface or mucosa of the prepuce in children with congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).
steroid 21-monooxygenase deficiency
Value of direct measurement of active renin concentrations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency.
steroid 21-monooxygenase deficiency
Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations.
steroid 21-monooxygenase deficiency
Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Virilising 21-hydroxylase deficiency: timing of newborn screening and confirmatory tests can be crucial.
steroid 21-monooxygenase deficiency
Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma.
steroid 21-monooxygenase deficiency
Virilization without adrenal hyperplasia in 21-hydroxylase deficiency during fetal life.
steroid 21-monooxygenase deficiency
Voice characteristics in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Voice problems due to virilization in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Weight Loss during Topiramate Treatment in a Severely Obese Adolescent with Congenital Adrenal Hyperplasia and Migraine.
steroid 21-monooxygenase deficiency
White Matter Microstructural Differences in Youth with Classical Congenital Adrenal Hyperplasia.
steroid 21-monooxygenase deficiency
Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty?
steroid 21-monooxygenase deficiency
Woman with virilizing congenital adrenal hyperplasia and leydig cell tumor of the ovary.
steroid 21-monooxygenase deficiency
Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
steroid 21-monooxygenase deficiency
X-chromatin in congenital virilizing adrenal hyperplasia.
steroid 21-monooxygenase deficiency
Zona fasciculata 21-hydroxysteroids and precursor-to-product ratios in 21-hydroxylase deficiency: further characterization of classic and nonclassic patients and heterozygote carriers.
steroid 21-monooxygenase deficiency
[21-deoxycortisol. A new marker of virilizing adrenal hyperplasia caused by 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[21-hydroxylase deficiency associated with adrenal tumor: case report of two brothers]
steroid 21-monooxygenase deficiency
[21-hydroxylase deficiency detected late in a man with chronic asthenia]
steroid 21-monooxygenase deficiency
[21-Hydroxylase deficiency. Clinical expression of heterozygote carriers in a family]
steroid 21-monooxygenase deficiency
[21-hydroxylase deficiency. Review of the biochemical characteristics and their diagnostic implications]
steroid 21-monooxygenase deficiency
[21-hydroxylase deficiency: a case in a newborn revealing a maternal forme tardive]
steroid 21-monooxygenase deficiency
[3 beta-hydroxysteroid dehydrogenase deficiency and 21-hydroxylase deficiency in hirsutism]
steroid 21-monooxygenase deficiency
[A case of 21-hydroxylase deficiency and Bartter's syndrome associated with a balanced 6-9 translocation]
steroid 21-monooxygenase deficiency
[A case of a simple virilizing form of 21-hydroxylase deficiency with schizophrenic symptoms, marked pigmentation and highly elevated plasma deoxycorticosterone]
steroid 21-monooxygenase deficiency
[A case of adrenal myelolipoma associated with adrenogenital syndrome]
steroid 21-monooxygenase deficiency
[A case of bilateral testicular tumors with congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[A case of post-pubertal form of 21-hydroxylase deficiency and polycystic ovaries]
steroid 21-monooxygenase deficiency
[A case of virilizing adrenal cortical adenoma whose steroid profile evokes a partial 21-hydroxylase deficiency (author's transl)]
steroid 21-monooxygenase deficiency
[A case report: reversible male infertility due to congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[A discuss on risk factors of final height in 21-hydroxylase deficiency patients]
steroid 21-monooxygenase deficiency
[A genetic and hormonal study of 5 patients with the nonclassical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[A method for the quantitative analysis of steroid hormones by HPLC/RIA]
steroid 21-monooxygenase deficiency
[A simple method for the estimation of a urinary steroids profile using glass capillary gas chromatography with a solventless injection system]
steroid 21-monooxygenase deficiency
[Adrenal hyperplasia as a result of 21-hydroxylase deficiency: prenatal diagnosis and treatment. Neonatal diagnosis]
steroid 21-monooxygenase deficiency
[Adrenogenital syndrome--molecular biology and prenatal diagnosis]
steroid 21-monooxygenase deficiency
[Aggravation of salt loss due to hydrocortisone in the first days of treatment of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Aldosterone metabolism in dizygotic twins with simple masculinizing-type adrenal gland hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[An analysis and identification of urinary steroids in normal people and patients with 21-hydroxylase deficiency and urinary excretion patterns]
steroid 21-monooxygenase deficiency
[Analysis of clinical phenotypes and CYP21A2 gene variants in 18 patients with 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Analysis of CYP21A2 gene mutations in two families with 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening].
steroid 21-monooxygenase deficiency
[Analysis of the degree of clinical suspect in patients with congenital adrenal hyperplasia by 21-hydroxylase deficiency before obtaining the result of the newborn screening program of the autonomous Community of Madrid.]
steroid 21-monooxygenase deficiency
[Anesthetic management of a patient with 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Antenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Association of congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency and bilateral testicular tumor]
steroid 21-monooxygenase deficiency
[Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Balanced translocation 8:10 and adrenogenital syndrome. Family study (author's transl)]
steroid 21-monooxygenase deficiency
[Bilateral testicular masses in the scope of adrenogenital syndrome]
steroid 21-monooxygenase deficiency
[Biochemical markers of congenital adrenal hyperplasia and impaired steroidogenesis].
steroid 21-monooxygenase deficiency
[Body composition in females with 21-hydroxylase deficiency: comparison of anthropometric methods and bioelectric impedance in relation to a control group].
steroid 21-monooxygenase deficiency
[Case of salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency and a short stature caused by early closure of epiphyseal lines in spite of steroid replacement therapy]
steroid 21-monooxygenase deficiency
[Characterization of new splicing mutation in steroid 21-hydroxylase gene].
steroid 21-monooxygenase deficiency
[Characterization of ovarian adrenal rest tumors in children and adolescent females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Characterization of steroid 21-hydroxylase gene mutations in a oligosymptomatic form of congenital adrenal hyperplasia: family study]
steroid 21-monooxygenase deficiency
[Chronic suicidality in depression due to untreated adrenogenital syndrome.]
steroid 21-monooxygenase deficiency
[Class I HLA antigens in children from families with congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Genetic considerations in light of personal studies]
steroid 21-monooxygenase deficiency
[Clinical characteristics of 21 infertile women with non-classic 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Clinical characteristics of testicular adrenal rest tumor and factors associated with its occurrence in 21-hydroxylase deficiency patients].
steroid 21-monooxygenase deficiency
[Clinical features and diagnosis of mild 3-beta-hydroxysteroid dehydrogenase deficiency in men]
steroid 21-monooxygenase deficiency
[Clinical features and genetic characteristics of 33 patients with simple virilizing form of 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Clinical features and outcomes of congenital adrenal hyperplasia with adenomatoid adrenal gland].
steroid 21-monooxygenase deficiency
[Clinical polymorphism of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency and HLA phenotype]
steroid 21-monooxygenase deficiency
[Clinical report of testicular hypoplasia combined with 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Clinical significance of plasma renin, testosterone, 17-alpha-hydroxyprogesterone and ACTH activities in the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. A review of 31 cases]
steroid 21-monooxygenase deficiency
[Comparative study of prednisolone versus hydrocortisone acetate for treatment of patients with the classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia and growth hormone deficiency. Special care in transition to adulthood]
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia and testicular hypertrophy]
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--management in adults].
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: final height in 27 patients with the classical form]
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation].
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia in the adult women: management of old and new challenges].
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency presenting with erythrocytosis.]
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia salt-wasting form in males during the neonatal period. Can we anticipate to metabolic emergency?]
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia. Presentation of a case and review of the literature]
steroid 21-monooxygenase deficiency
[Congenital adrenal hyperplasia: clinical aspects and neonatal screening]
steroid 21-monooxygenase deficiency
[Congenital adrenogenital syndrome and virilizing adrenocortical tumor in prepuberal females. Problems of diagnosis and therapy in 2 cases of virilization]
steroid 21-monooxygenase deficiency
[Congenital adrenogenital syndrome due to 21-hydroxylase deficiency. Pathogenesis, clinical picture, and deliberations over better therapy]
steroid 21-monooxygenase deficiency
[Congenital adrenogenital syndrome with unusually light 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Congenital virilization in a newborn girl of a mother with adrenogenital syndrome due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Connection between congenital adrenal hyperplasia due to 21-hydroxylase deficiency and the HLA genotype]
steroid 21-monooxygenase deficiency
[Contemporary diagnosis and therapy in women with congenital adrenal hyperplasia].
steroid 21-monooxygenase deficiency
[Contribution of genetics and molecular biology to the understanding of 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Corticoadrenal congenital hyperplasia with loss of salts due to 21-hydroxylase deficiency. Presentation of a personal observation]
steroid 21-monooxygenase deficiency
[Corticosteroid treatment regimes and growth hormone secretion in congenital adrenogenital syndrome]
steroid 21-monooxygenase deficiency
[Current concepts in the treatment of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Current data on the molecular biology of 21-hydroxylase deficiency. Diagnostic applications]
steroid 21-monooxygenase deficiency
[CYP21 gene point mutations study in 21-hydroxylase deficiency patients]
steroid 21-monooxygenase deficiency
[Defects of adrenal steroidogenesis in patients with hirsutism]
steroid 21-monooxygenase deficiency
[Detection of CYP21A2 gene mutations and the differences in the levels of hormones in patients with 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Detection of heterozygosity in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the general population]
steroid 21-monooxygenase deficiency
[Detection of steroid 21-hydroxylase gene variation among normal Chinese and patients with congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Determination of serum steroids in monitoring therapy of congenital adrenal hyperplasia].
steroid 21-monooxygenase deficiency
[Determination of urinary 17 alpha-hydroxyprogesterone excretion using ELISA--evaluation of normal subjects and patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Development and application of a method for molecular diagnosis of 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Diagnosis and course control of the adrenogenital syndrome of the 21-hydroxylase deficiency type using radioimmunologic demonstration of 17-alpha-hydroxyprogesterone]
steroid 21-monooxygenase deficiency
[Diagnosis and management of amenorrhea in adolescent girls].
steroid 21-monooxygenase deficiency
[Diagnosis of heterozygote carrier of mutant gene of 21-hydroxylase]
steroid 21-monooxygenase deficiency
[Diagnosis of late onset congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Diagnosis of the heterozygote carrier state in 21-hydroxylase deficiency using steroids]
steroid 21-monooxygenase deficiency
[Diagnostic value of multiplex ligation dependent probe amplification combined with Sanger sequencing in 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Efficacy of letrozole in treatment of children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Electroencephalographic changes in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Establishment of an allele-specific PCR method for direct screening of CYP21A2 gene mutation].
steroid 21-monooxygenase deficiency
[Experiences with specific screening for early detection of congenital adrenogenital syndrome with 21-hydroxylase defect]
steroid 21-monooxygenase deficiency
[Expression of the human steroid 21-hydroxylase gene and its mutant variant C169R in insect cells and functional analysis of expression products]
steroid 21-monooxygenase deficiency
[Features of adrenal cortex function in heterozygous carriers of 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Female pseudohermaphroditism in congenital adrenogenital syndrome as an incidental intraoperative finding in a 68 year old patient]
steroid 21-monooxygenase deficiency
[Final height in 69 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[From gene to disease: adrenogenital syndrome and the CYP21A2 gene]
steroid 21-monooxygenase deficiency
[Gas chromatography-mass spectrometry determination of plasma 5 alpha-androstane-3 alpha,17 beta-diol and 5 alpha-androstane-3 alpha,17 beta-diol glucuronide in children with premature and normal puberty ]
steroid 21-monooxygenase deficiency
[Genetic aspects of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Genetic counseling and prenatal diagnosis of adrenal hyperplasia caused by 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Genetic screening and prenatal diagnosis in 18 high-risk families with 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China].
steroid 21-monooxygenase deficiency
[Giant bilateral adrenal myelolipoma associated with congenital adrenal hyperplasia.]
steroid 21-monooxygenase deficiency
[Growth and adult height in patients with congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Health status of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.]
steroid 21-monooxygenase deficiency
[Hirsutism secondary to congenital adrenal hyperplasia caused by a 21-hydroxylase deficiency of late onset. A clinical case]
steroid 21-monooxygenase deficiency
[Hirsutism. Two familial cases of 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[HLA and congenital genital adrenal syndrome caused by 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[HLA antigens and different clinical forms of 21-hydroxylase deficiency in the French population]
steroid 21-monooxygenase deficiency
[HLA haplotypes in families of children with congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Hormonal profile and HLA typing of adult subjects from 7 families with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone]
steroid 21-monooxygenase deficiency
[Late diagnoses of 21-hydroxylase deficiencies in children (after the age of 3 years]
steroid 21-monooxygenase deficiency
[Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples].
steroid 21-monooxygenase deficiency
[Linkage analysis between HLA and GLOI with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Linkage between congenital adrenal hyperplasia with 21-hydroxylase deficiency and HLA histocompatibility groups]
steroid 21-monooxygenase deficiency
[Linkage between the gene responsible for adrenal hyperplasia caused by 21-hydroxylase deficiency and chromosome-6 short-arm markers]
steroid 21-monooxygenase deficiency
[Measurement of 17 OH progesterone in blood in Chilean newborns: antecedents for implementing a grogram for the neonatal detection of congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Medroxyprogesterone acetate. Contributive treatment in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in children]
steroid 21-monooxygenase deficiency
[Micro-filter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay. Application for diagnosis of 21-hydroxylase deficiency (author's transl)]
steroid 21-monooxygenase deficiency
[Modern methods in the diagnosis of hyperandrogenic dysfunction due to adrenal 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Molecular analysis of 21-hydroxylase gene of simple-virilizing 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Molecular and clinical study on homozygous or heterozygous large deletion of CYP21A2 gene in 21-OHD patients].
steroid 21-monooxygenase deficiency
[Molecular biology of incidentally diagnosed adrenal gland space-occupying lesion]
steroid 21-monooxygenase deficiency
[Molecular characterization of mutations and phenotype/genotype correlation in Chinese patients with 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Molecular genetic study of 21-hydroxylase deficiency gene conversion as a molecular mechanism of monogenic disorder]
steroid 21-monooxygenase deficiency
[Molecular genetics of 21-hydroxylase deficiency in congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation]
steroid 21-monooxygenase deficiency
[Mutation analysis in families with 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Mutations in 21-hydroxylase gene caused by gene conversion-like events]
steroid 21-monooxygenase deficiency
[Neonatal mass-screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. I. Microfilter paper methods for radioimmunoassay of 17 alpha-hydroxyprogesterone]
steroid 21-monooxygenase deficiency
[Neonatal mass-screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. II. A pilot neonatal mass-screening study in the west of Shizuoka Prefecture, Japan]
steroid 21-monooxygenase deficiency
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 1. Enzyme immunoassay of dried blood 17 alpha-hydroxyprogesterone and its application to neonatal screening for congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 2. Analysis of steroids with high-performance liquid chromatography for diagnosis of congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 3. An enzyme-linked immunosorbent assay for dried blood 17 alpha-hydroxyprogesterone]
steroid 21-monooxygenase deficiency
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 4. Development of enzyme-linked immunosorbent assay for dried blood cortisol and its application to neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Neonatal screening for congenital adrenal hyperplasia in Shanghai areas]
steroid 21-monooxygenase deficiency
[Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996]
steroid 21-monooxygenase deficiency
[Neonatal screening of congenital hyperplasia of the adrenal glands caused by 21-hydroxylase deficiency. Realities and perspectives]
steroid 21-monooxygenase deficiency
[Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia: Benefits and costs of a successful public health program].
steroid 21-monooxygenase deficiency
[Nodular adrenomegalies in congenital adrenal hyperplasia in adults. Implications]
steroid 21-monooxygenase deficiency
[Non-classical 21-hydroxylase deficiency: clinico-hormonal discrepancies and intrafamilial phenotypic variability]
steroid 21-monooxygenase deficiency
[Nonclassic congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Partial deficiency in 21-hydroxylase in certain forms of hirsutism]
steroid 21-monooxygenase deficiency
[Paucisymptomatic partial 21-hydroxylase deficiency (hirsutism)]
steroid 21-monooxygenase deficiency
[Possibility of progesterone as the diagnostic biomarker of 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Pregnancy outcomes of eight pregnant women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Pregnantriolon excretion after ACTH-stimulation in possible heterocygotes of 21-hydroxylase deficiency (author's transl)]
steroid 21-monooxygenase deficiency
[Premature androgenetic alopecia in adult male with nonclassic 21-OH deficiency. A novel nonsense CYP21A2 mutation (Y336X) in 2 affected siblings]
steroid 21-monooxygenase deficiency
[Prenatal dexamethasone treatment of 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency. Position of the Pediatric Endocrinology Study Group of the German Society of Pediatrics and the Section of Pediatric Endocrinology of the German Society of Endocrinology]
steroid 21-monooxygenase deficiency
[Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Prenatal diagnosis and treatment of adrenogenital syndrome. Prevent virilization of female fetuses]
steroid 21-monooxygenase deficiency
[Prenatal molecular genetic diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 9 treated pregnancies]
steroid 21-monooxygenase deficiency
[Present state of diagnosis and treatment of the adrenogenital syndrome (author's transl)]
steroid 21-monooxygenase deficiency
[Prevalence and related factors of dyslipidemia in patients with 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Prevention of sexual ambiguity in children with 21-hydroxylase deficiency by treatment in utero]
steroid 21-monooxygenase deficiency
[Problems posed by the association of hemophilia A and congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Pubic hair in children and late onset congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report].
steroid 21-monooxygenase deficiency
[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].
steroid 21-monooxygenase deficiency
[Reevaluation of recalled infants by neonatal mass screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Diagnostic value of pregnanetriolone in a single urine specimen using glass capillary gas chromatography]
steroid 21-monooxygenase deficiency
[Renin-angiotensin and hypophyseo-adrenal systems in children suffering from congenital adrenocortical hyperplasia resulting from 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Research on hirsutism. Apropos of a case of partial 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Results of genitoplasty for virilized genitalia of 41 females with congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Screening 21-hydroxylase deficiency carriers in androgen excess women of Chinese Han nationality]
steroid 21-monooxygenase deficiency
[Screening for congenital adrenal hyperplasia in Hungary]
steroid 21-monooxygenase deficiency
[Screening for congenital adrenal hyperplasia in pregnancy: results and perspectives].
steroid 21-monooxygenase deficiency
[Screening for hereditary diseases. What other screening?]
steroid 21-monooxygenase deficiency
[Short-term administration of dexamethasone in salt-losing 21-hydroxylase deficiency who showed sudden growth and pigmentation disorder under routine cortisol therapy]
steroid 21-monooxygenase deficiency
[State of the renin-angiotensin system in children with different clinical variants of congenital adrenal cortex hyperplasia caused by 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Steroid 21-hydroxylase deficiencies and female infertility: pathophysiology and management].
steroid 21-monooxygenase deficiency
[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia].
steroid 21-monooxygenase deficiency
[Strategies in screening of nonclassical forms of congenital adrenal hyperplasia caused by P450c21 deficiency in hyperandrogenic women]
steroid 21-monooxygenase deficiency
[Study of renin activity and aldosterone secretion in 7 cases of adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Study of renin activity and aldosterone secretion in adrenal hyperplasia due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Study of the transmission of the 21-hydroxylase deficiency through the hormonal screening and the HLA-typing (author's transl)]
steroid 21-monooxygenase deficiency
[Substitution hormonal therapy in congenital adrenocortical hyperplasia, caused by 21-hydroxylase deficiency (lecture)]
steroid 21-monooxygenase deficiency
[Successful treatment and pregnancy in a women with the non-classic form of congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Surgical correction of genital virilization in girls with congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Technique of PCR-ACRS for the detection of CYP21 gene mutations]
steroid 21-monooxygenase deficiency
[The alternative androgen synthesis pathway in humans].
steroid 21-monooxygenase deficiency
[The effect of maternal dexamethasone treatment after the 12th week of pregnancy on fetal genital development in adrenogenital syndrome with 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[The functional characteristics of the reproductive system in women who are heterozygous carriers of 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[The nonclassical form of congenital adrenal cortical dysfunction in adolescent girls].
steroid 21-monooxygenase deficiency
[The specific features of adrenal steroidogenesis in patients with congenital adrenal cortical dysfunction due to 21-hydroxylase deficiency].
steroid 21-monooxygenase deficiency
[Therapeutic problems in the adrenogenital syndrome caused by salt-losing 21-hydroxylase deficiency. Appearance of signs of corticoid overdosage at normally used doses]
steroid 21-monooxygenase deficiency
[TRANSURETHRAL URETEROLITHOTRIPSY FOR UPPER URINARY TRACT STONE IN SMALL CHILDREN WEIGHNING AROUND 10KG].
steroid 21-monooxygenase deficiency
[Treatment of adrenal gland hyperplasia caused by 21-hydroxylase deficiency (apropos of 26 cases)]
steroid 21-monooxygenase deficiency
[Treatment of adult men with congenital adrenal hyperplasia syndrome due to 21-hydroxylase deficiency]
steroid 21-monooxygenase deficiency
[Treatment of male adrenogenital syndrome (report of 17 cases)]
steroid 21-monooxygenase deficiency
[Unique steroid 21-hydroxylase gene CYP21A2 polymorphism in patients with hyperandrogenism signs].
steroid 21-monooxygenase deficiency
[Value of 17-hydroxyprogesterone determination in exploration of adrenal cortex enzyme deficiencies]
steroid 21-monooxygenase deficiency
[Value of the assay of plasma steroids in the control of congenital adrenal hyperplasia]
steroid 21-monooxygenase deficiency
[Virilization caused by 21-hydroxylase deficiency and axillary sweat gland hyperplasia]
steroid 21-monooxygenase deficiency
[Virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: early diagnosis and response to 2 treatment schedules]
steroid 21-monooxygenase deficiency
[Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: Study of a new case.]
Testicular Neoplasms
A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Testicular Neoplasms
Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.
Testicular Neoplasms
Gonadal and adrenal catheterization during adrenal suppression and gonadal stimulation in a patient with bilateral testicular tumors and congenital adrenal hyperplasia.
Testicular Neoplasms
Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review.
Testicular Neoplasms
Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies).
Testicular Neoplasms
Testicular tumors in congenital adrenal hyperplasia: steroid measurements from adrenal and spermatic veins.
Testicular Neoplasms
Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue.
Testicular Neoplasms
Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.
Testicular Neoplasms
[Association of congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency and bilateral testicular tumor]
Thyroid Diseases
Autoantibodies against glutamic acid decarboxylase and 21-hydroxylase in Brazilian patients with type 1 diabetes or autoimmune thyroid diseases.
Thyroid Diseases
Autoantibody "subspecificity" in type 1 diabetes: risk for organ-specific autoimmunity clusters in distinct groups.
Thyroid Diseases
Shared Genetic Basis for Type 1 Diabetes, Islet Autoantibodies, and Autoantibodies Associated With Other Immune-Mediated Diseases in Families With Type 1 Diabetes.
Thyroid Diseases
Transvaginal ultrasound detection of multifollicular ovaries in non-hirsute ovulatory women.
Thyroiditis
Autoantibodies against glutamic acid decarboxylase and 21-hydroxylase in Brazilian patients with type 1 diabetes or autoimmune thyroid diseases.
Thyroiditis
First proof of association between autoimmune polyglandular syndrome and multiple endocrine neoplasia in humans.
Tremor
Human CYP2D6 in the Brain Is Protective Against Harmine-Induced Neurotoxicity: Evidence from Humanized CYP2D6 Transgenic Mice.
Turner Syndrome
21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I.
Turner Syndrome
21-hydroxylase deficiency and Turner's syndrome: a reason for diminished endometrial receptivity.
Turner Syndrome
Adrenocorticotrophin stimulation and HLA polymorphisms suggest a high frequency of heterozygosity for steroid 21-hydroxylase deficiency in patients with Turner's syndrome and their families.
Turner Syndrome
Assessment of the 21-hydroxylase deficiency and the adrenal functions in young females with Turner syndrome.
Turner Syndrome
Disorders of sex development and female reproductive capacity: A literature review.
Turner Syndrome
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome.
Turner Syndrome
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.
Turner Syndrome
Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome.
Turner Syndrome
Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review.
Turner Syndrome
[Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report].
Turner Syndrome
[Turner syndrome caused by deletion of the long arm of the X chromosome associated with adrenogenital syndrome caused by partial deficiency of 21-hydroxylase]
unspecific monooxygenase deficiency
The CYP2D gene subfamily: analysis of the molecular basis of the debrisoquine 4-hydroxylase deficiency in DA rats.
Urinary Tract Infections
A Case of Salt-Wasting 21-Hydroxylase Deficiency With Resistance to Aldosterone due to Urinary Tract Infection.
Uterine Hemorrhage
Menstrual bleeding in a female infant with congenital adrenal hyperplasia: altered maturation of the hypothalamic-pituitary-ovarian axis.
Uterine Hemorrhage
Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman.
Uterine Hemorrhage
Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency.
Vaccinia
Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus.
Vaccinia
R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
Ventricular Dysfunction, Left
Assessment of early atherosclerosis and left ventricular dysfunction in children with 21-hydroxylase deficiency.
von Hippel-Lindau Disease
[Methods for the analysis of large gene deletions and their application in some hereditary diseases]
Wasting Syndrome
HLA class I-, complement C4- and 21-hydroxylase probes in the genetic analysis of 21-hydroxylase deficiency.
Wasting Syndrome
[Salt wasting syndrome caused by congenital, insufficient synthesis or aldosterone function--etiology, diagnosis and management]
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