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Disease on EC 1.1.1.145 - 3beta-hydroxy-DELTA5-steroid dehydrogenase

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DISEASE
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3(or 17)beta-hydroxysteroid dehydrogenase deficiency
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
3beta-hydroxy-delta5-steroid dehydrogenase deficiency
3beta-hydroxy-delta5-C27-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman.
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.
Adrenogenital syndrome. Association with 3-beta-hydroxysteroid dehydrogenase deficiency.
Carboxyl-Terminal Mutations in 3{beta}-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia.
Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test.
Case of an unreported genetic variant of salt losing 3-?-hydroxysteroid dehydrogenase deficiency.
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.
Comprehensive genotyping of Turkish women with hirsutism.
CONCURRENT 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY IN ADRENAL AND SCLEROCYSTIC OVARY.
Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3-beta-hydroxysteroid dehydrogenase deficiency.
Human 3?-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.
Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.
Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.
Serum and urinary steroids in girls with precocious pubarche and/or hirsutism due to mild 3-beta-hydroxysteroid dehydrogenase deficiency.
Severe Salt-Losing 3?-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
Steroidogenesis of the testis -- new genes and pathways.
Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome.
The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency.
Titration of Bile Acid Supplements in 3beta-Hydroxy-Delta5-C27-Steroid Dehydrogenase/Isomerase Deficiency.
Two Zebrafish hsd3b Genes Are Distinct in Function, Expression, and Evolution.
Urinary steroidal pattern of infants with congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency.
[Adrenal enzymatic block with late-onset caused by 11-hydroxylase deficiency. Apropos of 29 cases]
[Clinical features and diagnosis of mild 3-beta-hydroxysteroid dehydrogenase deficiency in men]
[Late onset hyperandrogenism caused by 3-beta-hydroxysteroid dehydrogenase deficiency]
[Partial 3-beta-hydroxysteroid dehydrogenase deficiencies]
[Polycystic ovary syndrome as expression of 3-beta-hydroxysteroid dehydrogenase deficiency]
3beta-hydroxysteroid 3-dehydrogenase deficiency
A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty.
Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls.
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.
Adrenal Hyperplasia, Congenital
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.
A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.
A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency.
A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty.
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.
A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3?-hydroxysteroid dehidrogenase type II.
Birth of a healthy boy following preimplantation genetic diagnosis for congenital adrenal hyperplasia.
Carboxyl-Terminal Mutations in 3{beta}-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia.
Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test.
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.
Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency.
Late diagnosis of 3?-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.
Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.
Severe Salt-Losing 3?-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia.
Three cases of 3?-hydroxysteroid dehydrogenase deficiency: Clinical analysis.
Two Zebrafish hsd3b Genes Are Distinct in Function, Expression, and Evolution.
Unusual type of congenital adrenal hyperplasia probably due to deficiency of 3-beta-hydroxysteroid dehydrogenase. Case report of a surviving girl and steroid studies.
Urinary steroidal pattern of infants with congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency.
[A novel homozygous mutation p.E25X in the HSD3B2 gene causing salt wasting 3?-hydroxysteroid dehydrogenases deficiency in a Chinese pubertal girl: a delayed diagnosis until recurrent ovary cysts].
[Congenital adrenal hyperplasia due to blockade of 3-beta-hydroxysteroid dehydrogenase]
Adrenocortical Carcinoma
Differential regulation of 3beta-hydroxysteroid dehydrogenase type II and 17alpha-hydroxylase/lyase P450 in human adrenocortical carcinoma cells by epidermal growth factor and basic fibroblast growth factor.
Sunitinib Inhibits Cell Proliferation and Alters Steroidogenesis by Down-Regulation of HSD3B2 in Adrenocortical Carcinoma Cells.
Adrenogenital Syndrome
Adrenogenital syndrome. Association with 3-beta-hydroxysteroid dehydrogenase deficiency.
Bartter Syndrome
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.
Breast Neoplasms
Genomic Profiling of the Steroidogenic Acute Regulatory Protein in Breast Cancer: In Silico Assessments and a Mechanistic Perspective.
Structural basis for the selective inhibition of human 3beta-hydroxysteroid dehydrogenase 1 in human breast tumor MCF-7 cells.
Cryptorchidism
A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity
Cysts
The steroid hormone environment during primordial follicle formation in perinatal mouse ovaries.
Disorders of Sex Development
A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.
A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity
Late diagnosis of 3?-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.
Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.
Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia.
Endometrial Neoplasms
The nuclear receptors SF1 and LRH1 are expressed in endometrial cancer cells and regulate steroidogenic gene transcription by cooperating with AP-1 factors.
Endometriosis
HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR expression in infertile women with endometriosis.
Intra-tissue steroid profiling indicates differential progesterone and testosterone metabolism in the endometrium and endometriosis lesions.
Essential Hypertension
Association of HSD3B1 and HSD3B2 gene polymorphisms with essential hypertension, aldosterone level, and left ventricular structure.
Genetic Diseases, Inborn
Aetiology of hypospadias: a systematic review of genes and environment.
Glioma
miR-29a-5p Regulates the Proliferation, Invasion, and Migration of Gliomas by Targeting DHRS4.
Herpes Zoster
11-Oxygenated C19 Steroids Do Not Decline with Age in Women.
A case of primary aldosteronism caused by multiple adrenocortical macronodules.
Alteration of the steroidogenesis in boys with autism spectrum disorders.
Circadian clock-deficient mice as a tool for exploring disease etiology.
Development of monoclonal antibodies against the human 3?-hydroxysteroid dehydrogenase/isomerase isozymes.
DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex.
Human adrenal cells that express both 3?-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) contribute to adrenal androstenedione production.
Human adrenal corticocarcinoma NCI-H295R cells produce more androgens than NCI-H295A cells and differ in 3beta-hydroxysteroid dehydrogenase type 2 and 17,20 lyase activities.
Immunolocalization of murine type VI 3?-hydroxysteroid dehydrogenase in the adrenal gland, testis, skin, and placenta.
[Effects of infrasound on activities of 3beta hydroxysteroid dehydrogenase and acid phosphatase of polygonal cells in adrenal cortex zona fasciculate in mice]
Hirsutism
Comprehensive genotyping of Turkish women with hirsutism.
Genotyping of the type II 3beta-hydroxysteroid dehydrogenase gene (HSD3B2) in women with hirsutism and elevated ACTH-stimulated delta(5)-steroids.
Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.
Serum and urinary steroids in girls with precocious pubarche and/or hirsutism due to mild 3-beta-hydroxysteroid dehydrogenase deficiency.
Hyperaldosteronism
Development of monoclonal antibodies against the human 3?-hydroxysteroid dehydrogenase/isomerase isozymes.
Hyperandrogenism
Baicalin inhibits recruitment of GATA1 to the HSD3B2 promoter and reverses hyperandrogenism of PCOS.
Nonhuman primates as models for human adrenal androgen production: Function and dysfunction.
Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents.
[Late onset hyperandrogenism caused by 3-beta-hydroxysteroid dehydrogenase deficiency]
Hypertension
Salt-sensitive hypertension in circadian clock-deficient Cry-null mice involves dysregulated adrenal Hsd3b6.
Hypertrophy, Left Ventricular
Association of HSD3B1 and HSD3B2 gene polymorphisms with essential hypertension, aldosterone level, and left ventricular structure.
Hypogonadism
A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity
[3-Beta-hydroxysteroid dehydrogenase activity in hypogonadotropic hypogonadism]
Hypospadias
Aetiology of hypospadias: a systematic review of genes and environment.
Late diagnosis of 3?-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.
Maternal exposure to di-n-butyl phthalate (DBP) induces combined anorectal and urogenital malformations in male rat offspring.
Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias.
Production of congenital adrenal cortical hyperplasia, hypospadias, and clitoral hypertrophy (adrenogenital syndrome) in rats by inactivation of 3-beta-hydroxysteroid dehydrogenase.
Hypotension
Term neonates with infection and shock display high cortisol precursors despite low levels of normal cortisol.
Infections
Testosterone response of hepatic gene expression in female mice having acquired testosterone-unresponsive immunity to Plasmodium chabaudi malaria.
The orphan nuclear receptor NGFIB regulates transcription of 3beta-hydroxysteroid dehydrogenase. implications for the control of adrenal functional zonation.
Insulin Resistance
The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency.
Leiomyoma
[Effects of metformin on the expression of estrogen synthetase and ER mRNA in uterine leiomyoma tissues].
Lymphatic Metastasis
Up regulation of the steroid hormone synthesis regulator HSD3B2 is linked to early PSA recurrence in prostate cancer.
Mania
Polymorphisms in AKR1C4 and HSD3B2 and differences in serum DHEAS and progesterone are associated with paranoid ideation during mania or hypomania in bipolar disorder.
Neoplasm Metastasis
Up regulation of the steroid hormone synthesis regulator HSD3B2 is linked to early PSA recurrence in prostate cancer.
Neoplasms
Benign cortisol-secreting adrenocortical adenomas produce small amounts of androgens.
Cushing's Syndrome by Left Adrenocortical Adenoma Synchronously Associated with Primary Aldosteronism by Right Adrenocortical Adenoma: Report of a Case.
DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex.
Expression of steroidogenic enzymes and their transcription factors in cortisol-producing adrenocortical adenomas: immunohistochemical analysis and quantitative real-time polymerase chain reaction studies.
Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif.
Genomic Profiling of the Steroidogenic Acute Regulatory Protein in Breast Cancer: In Silico Assessments and a Mechanistic Perspective.
Gonadotropin, steroid, and thyroid hormone milieu of young SWR mice bearing spontaneous granulosa cell tumors.
Intratumoral steroid profiling of adrenal cortisol-producing adenomas by liquid chromatography- mass spectrometry.
Multiple Endocrine Neoplasia Type 1 (MEN1) knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia.
The higher affinity of human type 1 3beta-hydroxysteroid dehydrogenase (3beta-HSD1) for substrate and inhibitor steroids relative to human 3beta-HSD2 is validated in MCF-7 tumor cells and related to subunit interactions.
THE HISTOCHEMISTRY OF 3-BETA-HYDROXYSTEROID DEHYDROGENASE. I. WITH SPECIAL REFERENCE TO ADRENAL GLANDS, AS AFFECTED BY ACTH, COLD, TRAUMA, AND TUMOR.
TMPRSS2-ERG fusions confer efficacy of enzalutamide in an in vivo bone tumor growth model.
Ultrastructure and immunohistochemistry of a fetal-type Leydig cell tumor.
Up regulation of the steroid hormone synthesis regulator HSD3B2 is linked to early PSA recurrence in prostate cancer.
[Deficiency of 3-beta-hydroxysteroid dehydrogenase in endocrine-active tumor of the ovary]
Neuroblastoma
Alternative transcription initiation and splicing variants of the DHRS4 gene cluster.
Obesity
m6A mRNA methylation regulates testosterone synthesis through modulating autophagy in Leydig cells.
Ovarian Hyperstimulation Syndrome
The direct and indirect effects of kisspeptin-54 on granulosa lutein cell function.
Polycystic Ovary Syndrome
A Dietary Medium-Chain Fatty Acid, Decanoic Acid, Inhibits Recruitment of Nur77 to the HSD3B2 Promoter In Vitro and Reverses Endocrine and Metabolic Abnormalities in a Rat Model of Polycystic Ovary Syndrome.
CONCURRENT 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY IN ADRENAL AND SCLEROCYSTIC OVARY.
Differential regulation of human 3?-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model.
The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency.
[Polycystic ovary syndrome as expression of 3-beta-hydroxysteroid dehydrogenase deficiency]
Prostatic Neoplasms
Androgen metabolism genes in prostate cancer health disparities.
GEN GEN: the genomic genetic analysis of androgen-metabolic genes and prostate cancer as a paradigm for the dissection of complex phenotypes.
Genetic variation of 3 beta-hydroxysteroid dehydrogenase type II in three racial/ethnic groups: implications for prostate cancer risk.
Hormonal carcinogenesis.
Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility.
Modulation of AKR1C2 by curcumin decreases testosterone production in prostate cancer.
Pomegranate polyphenols down-regulate expression of androgen-synthesizing genes in human prostate cancer cells overexpressing the androgen receptor.
Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer.
SRD5A2 and HSD3B2 polymorphisms are associated with prostate cancer risk and aggressiveness.
Thyroid cancer susceptibility and THRA1 and BAT-40 repeats polymorphisms.
Up regulation of the steroid hormone synthesis regulator HSD3B2 is linked to early PSA recurrence in prostate cancer.
Variant in sex hormone-binding globulin gene and the risk of prostate cancer.
Puberty, Precocious
A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity
Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls.
[Advances on related genes with sexual precocity in mammals]
Starvation
Impact of differential P450c17 phosphorylation by cAMP stimulation and by starvation conditions on enzyme activities and androgen production in NCI-H295R cells.
Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis.
Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells.
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.
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.
Severe Salt-Losing 3?-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome.
steroid delta-isomerase deficiency
Carboxyl-Terminal Mutations in 3{beta}-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia.
Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency.
Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.
Tics
Androgens Modulate Rat Granulosa Cell Steroidogenesis.
Urinary Bladder Neoplasms
HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer.
Vaccinia
Effect of 3-beta-hydroxysteroid dehydrogenase gene deletion on virulence and immunogenicity of different vaccinia viruses and their recombinants.
Wilms Tumor
Isolation of definitive zone and chromaffin cells based upon expression of CD56 (neural cell adhesion molecule) in the human fetal adrenal gland.
m6A mRNA methylation regulates testosterone synthesis through modulating autophagy in Leydig cells.