Gene Symbol: HSD3B2
Description: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Alias: HSD3B, HSDB, SDR11E2, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2, 3 beta-HSD type II, 3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II, 3-beta-HSD II, 3-beta-HSD adrenal and gonadal type, 3-beta-hydroxy-5-ene steroid dehydrogenase, 3-beta-hydroxy-Delta(5)-steroid dehydrogenase, delta 5-delta 4-isomerase type II, progesterone reductase, short chain dehydrogenase/reductase family 11E, member 2
Species: human
Products:     HSD3B2

Top Publications

  1. Wang L, Salavaggione E, Pelleymounter L, Eckloff B, Wieben E, Weinshilboum R. Human 3beta-hydroxysteroid dehydrogenase types 1 and 2: Gene sequence variation and functional genomics. J Steroid Biochem Mol Biol. 2007;107:88-99 pubmed
    The 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase isoenzymes 1 and 2 (HSD3B1 and HSD3B2) are membrane-bound enzymes that play essential roles in the biosynthesis of steroid hormones...
  2. Chang B, Zheng S, Hawkins G, Isaacs S, Wiley K, Turner A, et al. Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. Cancer Res. 2002;62:1784-9 pubmed
    ..variants in the putative promoter region, exons, exon-intron junctions, and 3'-untranslated region of HSD3B1 and HSD3B2 genes by direct sequencing...
  3. Neslund Dudas C, Bock C, Monaghan K, Nock N, Yang J, Rundle A, et al. SRD5A2 and HSD3B2 polymorphisms are associated with prostate cancer risk and aggressiveness. Prostate. 2007;67:1654-63 pubmed
    ..Five alpha reductase type II (SRD5A2) and 3 beta-hydroxysteroid dehydrogenase type II (HSD3B2) are responsible for the biosynthesis and degradation of DHT in the prostate...
  4. Beuten J, Gelfond J, Franke J, Weldon K, Crandall A, Johnson Pais T, et al. Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer. Cancer Epidemiol Biomarkers Prev. 2009;18:1869-80 pubmed publisher
    ..and the genetic variants of 12 key genes within the steroid hormone pathway (CYP17, HSD17B3, ESR1, SRD5A2, HSD3B1, HSD3B2, CYP19, CYP1A1, CYP1B1, CYP3A4, CYP27B1, and CYP24A1)...
  5. Uren Webster T, Laing L, Florance H, Santos E. Effects of glyphosate and its formulation, roundup, on reproduction in zebrafish (Danio rerio). Environ Sci Technol. 2014;48:1271-9 pubmed publisher
    ..revealed 10 mg/L Roundup and glyphosate induced changes in the expression of cyp19a1 and esr1 in the ovary and hsd3b2, cat, and sod1 in the testis...
  6. Al Alawi A, Nordenstrom A, Falhammar H. Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency. Endocrine. 2019;63:407-421 pubmed publisher
    ..The aim was to review the literature. PubMed was searched for relevant articles. 3βHSD2D is caused by HSD3B2 gene mutations and characterized by impaired steroid synthesis in the gonads and the adrenal glands and subsequent ..
  7. Rodríguez Sanz M, García Giralt N, Prieto Alhambra D, Servitja S, Balcells S, Pecorelli R, et al. CYP11A1 expression in bone is associated with aromatase inhibitor-related bone loss. J Mol Endocrinol. 2015;55:69-79 pubmed publisher
    ..SNPs in candidate genes involved in vitamin D and estrogen hormone-response pathways (CYP11A1, CYP17A1, HSD3B2, HSD17B3, CYP19A1, CYP2C19, CYP2C9, ESR1, DHCR7, GC, CYP2R1, CYP27B1, VDR and CYP24A1) were genotyped for ..
  8. van der Sluis R, Van Eck M, Hoekstra M. Adrenocortical LDL receptor function negatively influences glucocorticoid output. J Endocrinol. 2015;226:145-54 pubmed publisher
    ..05) in the transcript level of the key steroidogenic enzyme HSD3B2. In conclusion, our studies in a mouse model with a human-like lipoprotein profile provide the first in vivo ..
  9. Malikova J, Camats N, Fernández Cancio M, Heath K, González I, Caimarí M, et al. Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis. PLoS ONE. 2014;9:e104838 pubmed publisher
    ..in cell systems (HEK293, JEG3) for impact on transcription of genes involved in steroidogenesis (CYP11A1, CYP17A1, HSD3B2) and in energy balance (BDNF). BDNF regulation by SF-1 was studied by promoter assays (JEG3)...

More Information

Publications122 found, 100 shown here

  1. Camats N, Audí L, Fernández Cancio M, Andaluz P, Mullis P, Carrascosa A, et al. LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study. Sex Dev. 2015;9:144-54 pubmed publisher
    ..LRH-1 isoforms transactivate the CYP17A1 and HSD3B2 promoters similarly to SF-1 and compensate for SF-1 deficiency...
  2. Owens L, Abbara A, Lerner A, O floinn S, Christopoulos G, Khanjani S, et al. The direct and indirect effects of kisspeptin-54 on granulosa lutein cell function. Hum Reprod. 2018;33:292-302 pubmed publisher
    ..5-fold (P < 0.05) higher, STAR expression was 3.4-fold (P < 0.01) and 1.8-fold (P < 0.05) higher, HSD3B2 expression was 7.5- (P < 0.01) and 2.5-fold higher (P < 0.05), INHBA was 2.5-fold (P < 0.01) and 2...
  3. Feng Q, Hui J, Tang N, Liu Y, Zhong H, Li Z, et al. Unexpected role of the human cytomegalovirus contribute to essential hypertension in the Kazakh Chinese population of Xinjiang. Biosci Rep. 2018;38: pubmed publisher
    ..enzyme (sACE, ACE) methylation was increased, whereas 11-β hydroxysteroid dehydrogenase 2 (HSD11β2; HSD3B2) methylation was decreased in patients with EH who were also infected with HCMV...
  4. Witchel S, Smith R, Tomboc M, Aston C. Candidate gene analysis in premature pubarche and adolescent hyperandrogenism. Fertil Steril. 2001;75:724-30 pubmed
    ..Heterozygosity for HSD3B2 variants was identified in 3 of 40 (7.5%) PP, 5 of 29 (17%) HA, and 0/15 controls...
  5. Havelock J, Smith A, Seely J, Dooley C, Rodgers R, Rainey W, et al. The NGFI-B family of transcription factors regulates expression of 3beta-hydroxysteroid dehydrogenase type 2 in the human ovary. Mol Hum Reprod. 2005;11:79-85 pubmed
    ..FSH rapidly increased the NGFI-B mRNA levels followed by an increase in 3beta-hydroxysteroid dehydrogenase type 2 (HSD3B2)...
  6. Turcu A, Nanba A, Chomic R, Upadhyay S, Giordano T, Shields J, et al. Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency. Eur J Endocrinol. 2016;174:601-9 pubmed publisher
    ..Immunofluroescence localized 3?-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) within the normal and 21OHD adrenals...
  7. Chen M, Xu Y, Miao B, Zhao H, Gao J, Zhou C. Temporal effects of human chorionic gonadotropin on expression of the circadian genes and steroidogenesis-related genes in human luteinized granulosa cells. Gynecol Endocrinol. 2017;33:570-573 pubmed publisher
    ..Expression of CYP11A1, HSD3B2, and CYP19A1 increased significantly after hCG stimulation; however, none of these genes displayed significant ..
  8. Katsumata N, Tanae A, Yasunaga T, Horikawa R, Tanaka T, Hibi I. A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency. Hum Mol Genet. 1995;4:745-6 pubmed
  9. Flück C, Pandey A. Steroidogenesis of the testis -- new genes and pathways. Ann Endocrinol (Paris). 2014;75:40-7 pubmed publisher
    ..The classic androgen biosynthesis defects with AI are lipoid CAH, CYP11A1 and HSD3B2 deficiencies...
  10. Tong A, Jia A, Yan S, Zhang Y, Xie Y, Liu G. Ectopic cortisol-producing adrenocortical adenoma in the renal hilum: histopathological features and steroidogenic enzyme profile. Int J Clin Exp Pathol. 2014;7:4415-21 pubmed
    ..The adenoma tissue showed a strong immunostaining for Melan-A, 3beta-hydroxysteroid dehydrogenase (HSD3B2) and 17alpha-hydroxylase1 (CYP17A1)...
  11. Baquedano M, Guercio G, Costanzo M, Marino R, Rivarola M, Belgorosky A. Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone. Vitam Horm. 2018;108:75-123 pubmed publisher
    ..In enzyme deficiency states, due to recessive loss-of-function HSD3B2 mutations, steroid flux is altered and clinical manifestations result...
  12. Udhane S, Dick B, Hu Q, Hartmann R, Pandey A. Specificity of anti-prostate cancer CYP17A1 inhibitors on androgen biosynthesis. Biochem Biophys Res Commun. 2016;477:1005-1010 pubmed publisher
    ..Gene expression analysis showed that galeterone altered the expression of HSD3B2 but orteronel did not change the expression of HSD3B2, CYP17A1 and AKR1C3...
  13. Pyun B, Yang H, Sohn E, Yu S, Lee D, Jung D, et al. Tetragonia tetragonioides (Pall.) Kuntze Regulates Androgen Production in a Letrozole-Induced Polycystic Ovary Syndrome Model. Molecules. 2018;23: pubmed publisher
    ..TTK extract inhibits androgen biosynthesis through the ERK-CREB signaling pathway, which regulates CYP17A1 or HSD3B2 expression...
  14. Neubauer E, Latif M, Krause J, Heumann A, Armbrust M, Luehr C, et al. Up regulation of the steroid hormone synthesis regulator HSD3B2 is linked to early PSA recurrence in prostate cancer. Exp Mol Pathol. 2018;105:50-56 pubmed publisher
    b>HSD3B2 plays a crucial role in steroid hormone biosynthesis and is thus of particular interest in hormone dependent tumors such as prostate cancer...
  15. Kon M, Suzuki E, Dung V, Hasegawa Y, Mitsui T, Muroya K, et al. Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients. Hum Reprod. 2015;30:499-506 pubmed publisher
    ..such as hemizygous mutations in AR, a heterozygous mutation in BNC2, and homozygous mutations in SRD5A2 and HSD3B2. Two of the seven patients had mutations in multiple genes...
  16. Lin J, Hu S, Ho P, Hsu H, Postlethwait J, Chung B. Two Zebrafish hsd3b Genes Are Distinct in Function, Expression, and Evolution. Endocrinology. 2015;156:2854-62 pubmed publisher
    ..HSD3B catalyzes the synthesis of δ4 steroids such as progesterone in the adrenals and gonads. Individuals lacking HSD3B2 activity experience congenital adrenal hyperplasia with imbalanced steroid synthesis...
  17. Abdou H, Robert N, Tremblay J. Calcium-dependent Nr4a1 expression in mouse Leydig cells requires distinct AP1/CRE and MEF2 elements. J Mol Endocrinol. 2016;56:151-61 pubmed publisher
    ..the expression of several genes involved in steroidogenesis and male sex differentiation including Star, HSD3B2, and Insl3 Activation of the cAMP and Ca(2+) signaling pathways in response to LH stimulation leads to a rapid and ..
  18. Gomez Sanchez C, Lewis M, Nanba K, Rainey W, Kuppusamy M, Gomez Sanchez E. Development of monoclonal antibodies against the human 3β-hydroxysteroid dehydrogenase/isomerase isozymes. Steroids. 2017;127:56-61 pubmed publisher
    ..The human has 2 isozymes, the HSD3B1 that is traditionally located in placenta and extra-adrenal tissues and the HSD3B2 that is expressed in the adrenal and gonads...
  19. Makala H, Pothana L, Sonam S, Malla A, Goel S. Regeneration of Leydig cells in ectopically autografted adult mouse testes. Reproduction. 2015;149:259-68 pubmed publisher
    ..The expression of Leydig cell-specific proteins such as CYP11A1, HSD3B2 and LHCGR showed revival of Leydig cell (LC) populations in autografts over time since grafting...
  20. Wu V, Wu C, Chang Y, Young G, Chen S, Yang W, et al. Association of the variations in the HSD3? gene with primary aldosteronism. J Hypertens. 2013;31:1396-405; discussion 1405 pubmed publisher
    ..Risk-conferring genetic variations in the HSD3? gene influenced susceptibility of primary aldosteronism. Concomitant presence of rs6203 CC and rs12410453 GA genotypes synergistically increased aldosterone-to-renin ratio. ..
  21. Morel Y, Roucher F, Plotton I, Goursaud C, Tardy V, Mallet D. Evolution of steroids during pregnancy: Maternal, placental and fetal synthesis. Ann Endocrinol (Paris). 2016;77:82-9 pubmed publisher
    ..in placenta and in adrenal fetal zone and the better determination of the onset and variation of others especially HSD3B2 during the pregnancy explain the production of the steroid hormones...
  22. Tetti M, Castellano I, Venziano F, Magnino C, Veglio F, Mulatero P, et al. Role of Cryptochrome-1 and Cryptochrome-2 in Aldosterone-Producing Adenomas and Adrenocortical Cells. Int J Mol Sci. 2018;19: pubmed publisher
    ..Type II 3β-hydroxyl-steroid dehydrogenase (HSD3B2) was 317-fold [200⁻573] more expressed than HSD3B1, and is the main HSD3B isoform in APAs...
  23. Tajima T, Fujieda K, Nakae J, Shinohara N, Yoshimoto M, Baba T, et al. Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency. Hum Mol Genet. 1995;4:969-71 pubmed
  24. Indran I, Lee B, Yong E. Cellular and Animal Studies: Insights into Pathophysiology and Therapy of PCOS. Best Pract Res Clin Obstet Gynaecol. 2016;37:12-24 pubmed publisher
    ..cells taken from women with PCOS have demonstrated increased androgen production due to increased CYP17A1 and HSD3B2 enzyme activities...
  25. Luo G, Shen Y, Yang L, Lu A, Xiang Z. A review of drug-induced liver injury databases. Arch Toxicol. 2017;91:3039-3049 pubmed publisher
    ..LiverTox, LTKB, Open TG-GATEs, LTMap and Hepatox, and the general databases, T3DB, DrugBank, DITOP, DART, CTD and HSDB. The features and limitations of these databases are summarized and discussed in detail...
  26. Fonger G, Hakkinen P, Jordan S, Publicker S. The National Library of Medicine's (NLM) Hazardous Substances Data Bank (HSDB): background, recent enhancements and future plans. Toxicology. 2014;325:209-16 pubmed publisher
    ..Health Information Program is responsible for the management of the online Hazardous Substances Data Bank (HSDB)...
  27. Gerritsen L, Milaneschi Y, Vinkers C, van Hemert A, van Velzen L, Schmaal L, et al. HPA Axis Genes, and Their Interaction with Childhood Maltreatment, are Related to Cortisol Levels and Stress-Related Phenotypes. Neuropsychopharmacology. 2017;42:2446-2455 pubmed publisher
    ..were found for dexamethasone suppression (CYP11A1, CYP17A1, POU1F1, AKR1D1), hippocampal volume (CYP17A1, CYP11A1, HSD3B2, PROP1, AVPRA1, SRD5A1), amygdala volume (POMC, CRH, HSD3B2), and lifetime MDD diagnosis (FKBP5 and CRH), all ..
  28. Codner E, Okuma C, Iniguez G, Boric M, Avila A, Johnson M, et al. Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias. J Clin Endocrinol Metab. 2004;89:957-64 pubmed
    To determine whether some patients with idiopathic hypospadias have HSD3B2 mutations, we genotyped this locus in 90 patients with hypospadias (age, 6.0 +/- 0.4 yr) and 101 healthy fertile male controls...
  29. Mitchell E, Farin F, Stapleton P, Tsai J, Tao E, Smith Dijulio K, et al. Association of estrogen-related polymorphisms with age at menarche, age at final menstrual period, and stages of the menopausal transition. Menopause. 2008;15:105-11 pubmed
    ..However, because of the number of comparisons, these associations may be false positives. These findings should be confirmed with a larger sample of white women. ..
  30. Hevir Kene N, Rižner T. The endometrial cancer cell lines Ishikawa and HEC-1A, and the control cell line HIEEC, differ in expression of estrogen biosynthetic and metabolic genes, and in androstenedione and estrone-sulfate metabolism. Chem Biol Interact. 2015;234:309-19 pubmed publisher
    ..metabolic enzymes, these cells showed statistically significant different gene expression profiles for SULT2B1, HSD3B2, CYP19A1, AKR1C3, HSD17B1, HSD17B7, HSD17B12, CYP1B1, CYP3A5, COMT, SULT1A1, GSTP1 and NQO2...
  31. Araújo V, Oliveira R, Gameleira K, Cruz C, Lofrano Porto A. 3β-hydroxysteroid dehydrogenase type II deficiency on newborn screening test. Arq Bras Endocrinol Metabol. 2014;58:650-5 pubmed
    ..Molecular analysis of the HSD3B2 gene from the affected case revealed the presence of the homozygous p...
  32. Rege J, Nishimoto H, Nishimoto K, Rodgers R, Auchus R, Rainey W. Bone Morphogenetic Protein-4 (BMP4): A Paracrine Regulator of Human Adrenal C19 Steroid Synthesis. Endocrinology. 2015;156:2530-40 pubmed publisher
    ..levels of cholesterol side-chain cleavage cytochrome P450 (CYP11A1) or type 2 3β-hydroxysteroid dehydrogenase (HSD3B2)...
  33. Pawlak K, Prasad M, Thomas J, Whittal R, Bose H. Inner mitochondrial translocase Tim50 interacts with 3?-hydroxysteroid dehydrogenase type 2 to regulate adrenal and gonadal steroidogenesis. J Biol Chem. 2011;286:39130-40 pubmed publisher
    ..In summary, Tim50 regulates 3?HSD2 expression and activity, representing a new role for translocases in steroidogenesis...
  34. Osiński M, Wirstlein P, Wender Ozegowska E, Mikołajczyk M, Jagodziński P, Szczepańska M. HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR expression in infertile women with endometriosis. Ginekol Pol. 2018;89:125-134 pubmed publisher
    ..is associated with changes in the expression of genes encoding the 3?-hydroxysteroid dehydrogenase type II (HSD3B2) and 17?-hydroxysteroid dehydrogenase type II (HSD17B2), estrogen receptors 1 (ESR1) and 2 (ESR2) and the androgen ..
  35. Udhane S, Pandey A, Hofer G, Mullis P, Flück C. Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis. Sci Rep. 2015;5:10132 pubmed publisher
    ..under starvation conditions acquire a hyperandrogenic steroid profile with changes in steroid metabolizing enzymes HSD3B2 and CYP17A1 essential for androgen production...
  36. Lee B, Indran I, Tan H, Li Y, Zhang Z, Li J, et al. 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. Endocrinology. 2016;157:382-94 pubmed publisher
    ..steroidogenic cells by regulating the enzyme 3β-hydroxysteroid dehydrogenase/Δ5-Δ4-isomerase type 2 (HSD3B2)...
  37. Simard J, Durocher F, Mebarki F, Turgeon C, Sanchez R, Labrie Y, et al. Molecular biology and genetics of the 3 beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family. J Endocrinol. 1996;150 Suppl:S189-207 pubmed
  38. Liu Y, Du S, Ding M, Dou X, Zhang F, Wu Z, et al. The BMP4-Smad signaling pathway regulates hyperandrogenism development in a female mouse model. J Biol Chem. 2017;292:11740-11750 pubmed publisher
    ..production in granulosa cells by regulating the expression of steroidogenic enzymes, including CYP11A, HSD3B2, CYP17A1, and CYP19A1 Consistently, knockdown of BMP4 augmented androgen levels and inhibited ..
  39. Panzer K, Ekhaguere O, Darbro B, Cook J, Shchelochkov O. Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia. J Clin Res Pediatr Endocrinol. 2017;9:70-73 pubmed publisher
    ..Sanger sequencing of HSD3B2 revealed a previously described missense mutation, c.424G>A (p...
  40. Shibata N, Ohoka N, Sugaki Y, Onodera C, Inoue M, Sakuraba Y, et al. Degradation of Stop Codon Read-through Mutant Proteins via the Ubiquitin-Proteasome System Causes Hereditary Disorders. J Biol Chem. 2015;290:28428-37 pubmed publisher
    ..20 read-through mutations are related to hereditary disorders, and extended peptides found in human PNPO and HSD3B2 similarly destabilize these proteins, involving TRIM21 for PNPO degradation...
  41. Chen M, Xu Y, Miao B, Zhao H, Luo L, Shi H, et al. Expression pattern of circadian genes and steroidogenesis-related genes after testosterone stimulation in the human ovary. J Ovarian Res. 2016;9:56 pubmed publisher
    ..patterns of the circadian genes CLOCK, PER2, and BMAL1, and the steroidogenesis-related genes STAR, CYP11A1, HSD3B2, and CYP19A1 in cultured human luteinized granulosa cells were analyzed over the course of 48 h after ..
  42. Hardy R, Filer A, Cooper M, Parsonage G, Raza K, Hardie D, et al. Differential expression, function and response to inflammatory stimuli of 11beta-hydroxysteroid dehydrogenase type 1 in human fibroblasts: a mechanism for tissue-specific regulation of inflammation. Arthritis Res Ther. 2006;8:R108 pubmed
  43. Andrew A, Hu T, Gu J, Gui J, Ye Y, Marsit C, et al. HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer. PLoS ONE. 2012;7:e51301 pubmed publisher
    ..The 3'UTR flanking variant form of the hormone regulation gene HSD3B2 was associated with increased bladder cancer risk in the New Hampshire population (adjusted OR 1.85 95%CI 1.31-2...
  44. Taheri S, Zararsiz G, Karaburgu S, Borlu M, Ozgun M, Karaca Z, et al. Is idiopathic hirsutism (IH) really idiopathic? mRNA expressions of skin steroidogenic enzymes in women with IH. Eur J Endocrinol. 2015;173:447-54 pubmed publisher
    ..with local androgen synthesis and metabolism (CYP11A1, STS, CYP19A1, SRD5A1, SRD5A2, HSD3B1, AR, COMT, ESR1, ESR2, HSD3B2, CYP17A1, SULT2A1, SULT1E1, HSD17B2, IL6, TGFB1, TNFA) from skin biopsy and blood samples of patients with IH and ..
  45. Vaňková M, Hill M, Velíková M, Včelák J, Vacínová G, Dvořáková K, et al. Preliminary evidence of altered steroidogenesis in women with Alzheimer's disease: Have the patients "OLDER" adrenal zona reticularis?. J Steroid Biochem Mol Biol. 2016;158:157-177 pubmed publisher
    ..The patients showed diminished HSD3B2 activity for C21 steroids, abated conversion of 17-hydroxyprogesterone to cortisol, and significantly elevated ..
  46. Kubota Nakayama F, Nakamura Y, Konosu Fukaya S, Azmahani A, Ise K, Yamazaki Y, et al. Expression of steroidogenic enzymes and their transcription factors in cortisol-producing adrenocortical adenomas: immunohistochemical analysis and quantitative real-time polymerase chain reaction studies. Hum Pathol. 2016;54:165-73 pubmed publisher
    ..Immunoreactivity of HSD3B2, CYP11B1, CYP17A1, steroidogenic factor-1 (SF1[NR5A1]), GATA6, and nerve growth factor induced-B (NGFIB[NR4A1]) ..
  47. Lachance Y, Luu The V, Verreault H, Dumont M, Rheaume E, Leblanc G, et al. Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal and gonadal specificity. DNA Cell Biol. 1991;10:701-11 pubmed
    ..The present findings should provide the tools required for detailed analysis of the molecular basis of 3 beta-HSD deficiency as well as of normal sex steroid biosynthesis. ..
  48. Donadille B, Houang M, Netchine I, Siffroi J, Christin Maitre S. Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit. Endocr Connect. 2018;7:395-402 pubmed publisher
    ..dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated prevalence is less than 1/1,000,000 at birth...
  49. Fujisawa Y, Sakaguchi K, Ono H, Yamaguchi R, Kato F, Kagami M, et al. Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma. J Steroid Biochem Mol Biol. 2016;159:86-93 pubmed publisher
    ..POR, HSD17B3, and SULT2A1, a low but similar expression of CYB5A, and reduced expressions of AKR1C3 (HSD17B5) and HSD3B2. Notably, a Leydig cell marker INSL3 was expressed at a low but detectable level in the c-ACC...
  50. Burckhardt M, Udhane S, Marti N, Schnyder I, Tapia C, Nielsen J, et al. Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature. Eur J Endocrinol. 2015;173:K1-K12 pubmed publisher
    ..There are two isozymes of 3βHSD, HSD3B1 and HSD3B2. Human mutations are known for the HSD3B2 gene which is expressed in the gonads and the adrenals...
  51. Mermejo L, Elias L, Marui S, Moreira A, Mendonca B, de Castro M. Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. J Clin Endocrinol Metab. 2005;90:1287-93 pubmed
    ..presentation ranging from the severe salt-wasting to the non-salt-wasting forms and results from mutations in the HSD3B2 gene...
  52. Krone N, Arlt W. Genetics of congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab. 2009;23:181-92 pubmed publisher
    ..adrenal steroidogenesis, whereas 17alpha-hydroxylase (CYP17A1) and 3beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency also impact on gonadal steroid biosynthesis...
  53. Rheaume E, Lachance Y, Zhao H, Breton N, Dumont M, de Launoit Y, et al. Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads. Mol Endocrinol. 1991;5:1147-57 pubmed
    ..The nucleotide sequence of 1676 basepairs of human 3 beta HSD type II cDNA predicts a protein of 371 amino acids with a calculated molecular mass of 41,921 daltons, which ..
  54. Ide H, Lu Y, Noguchi T, Muto S, Okada H, Kawato S, et al. Modulation of AKR1C2 by curcumin decreases testosterone production in prostate cancer. Cancer Sci. 2018;109:1230-1238 pubmed publisher
    ..Curcumin decreased the expression of steroidogenic acute regulatory proteins, CYP11A1 and HSD3B2 in prostate cancer cell lines, supporting the decrease of testosterone production...
  55. Baida A, Farrington S, Galofré P, Marcos R, Velázquez A. Thyroid cancer susceptibility and THRA1 and BAT-40 repeats polymorphisms. Cancer Epidemiol Biomarkers Prev. 2005;14:638-42 pubmed
    ..To our knowledge, this is the first study reporting the identification of genetic factors for thyroid cancer susceptibility. ..
  56. Zachmann M, Forest M, de Peretti E. 3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age. Horm Res. 1979;11:292-302 pubmed
    ..The large quantities of pregnanetriol in the urine are not due to an incomplete defect or an additional 21-hydroxylase deficiency, but most likely to the peripheral or hepatic conversion of 17OH-pregnenolone or delta 5-pregnenetriol. ..
  57. Chang Y, Kappy M, Iwamoto K, Wang J, Yang X, Pang S. Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia. Pediatr Res. 1993;34:698-700 pubmed
    ..These data indicate a homozygous combined missense/frameshift mutation in exon IV of the type II 3 beta-HSD gene resulting in severe salt-wasting adrenal and gonadal 3 beta-HSD deficiency in the patient. ..
  58. Berndt S, Chatterjee N, Huang W, Chanock S, Welch R, Crawford E, et al. Variant in sex hormone-binding globulin gene and the risk of prostate cancer. Cancer Epidemiol Biomarkers Prev. 2007;16:165-8 pubmed
    ..in genes involved in hormone regulation or metabolism (AKR1C3, CYP1A1, CYP1B1, CYP3A4, ESR1, GNRH1, HSD173B, HSD3B2, SHBG, and SRD5A2) in 488 prostate cancer cases and 617 matched controls...
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    ..In conclusion, we elaborate several mechanisms for intracrine formation of progesterone in hOSE that could contribute in the development of novel strategies to prevent, diagnose and/or treat ovarian cancer. ..
  61. Konosu Fukaya S, Nakamura Y, Satoh F, Felizola S, Maekawa T, Ono Y, et al. 3β-Hydroxysteroid dehydrogenase isoforms in human aldosterone-producing adenoma. Mol Cell Endocrinol. 2015;408:205-12 pubmed publisher
    ..become important to evaluate the possible involvement of 3β-hydroxysteroid dehydrogenase type 1 (HSD3B1) and 2 (HSD3B2) isoforms in aldosterone-producing adenoma (APA)...
  62. Ishida K, Sasano H, Moriya T, Takahashi Y, Sugimoto R, Mue Y, et al. Immunohistochemical analysis of steroidogenic enzymes in ovarian-type stroma of pancreatic mucinous cystic neoplasms: Comparative study of subepithelial stromal cells in intraductal papillary mucinous neoplasms of the pancreas. Pathol Int. 2016;66:281-7 pubmed publisher
    ..These results demonstrate that the ovarian-type stroma of MCNs can express steroidogenic enzymes. Thus, the ovarian-type stroma of MCNs can produce sex steroids that may also act on these cells. ..
  63. Russell A, Wallace A, Forest M, Donaldson M, Edwards C, Sutcliffe R. Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss. J Mol Endocrinol. 1994;12:225-37 pubmed
    ..The application of DGGE to the analysis of mutations in members of a multigene family is discussed. ..
  64. Peng N, Kim J, Rainey W, Carr B, Attia G. The role of the orphan nuclear receptor, liver receptor homologue-1, in the regulation of human corpus luteum 3beta-hydroxysteroid dehydrogenase type II. J Clin Endocrinol Metab. 2003;88:6020-8 pubmed
    After ovulation, ovarian 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) expression increases to enhance the shift of steroidogenesis toward progesterone biosynthesis...
  65. Dubé C, Bergeron F, Vaillant M, Robert N, Brousseau C, Tremblay J. The nuclear receptors SF1 and LRH1 are expressed in endometrial cancer cells and regulate steroidogenic gene transcription by cooperating with AP-1 factors. Cancer Lett. 2009;275:127-38 pubmed publisher
    ..but not the related nuclear receptor NUR77, can activate the promoters of three human steroidogenic genes: STAR, HSD3B2, and CYP19A1 PII. Similarly, forskolin but not PMA, could activate all three promoters...
  66. Nogueira E, Xing Y, Morris C, Rainey W. Role of angiotensin II-induced rapid response genes in the regulation of enzymes needed for aldosterone synthesis. J Mol Endocrinol. 2009;42:319-30 pubmed publisher
    ..NGFI-B family members induced promoter activity of 3-beta-hydroxysteroid-dehydrogenase type 2 (HSD3B2), 21-hydroxylase (CYP21A2), and aldosterone synthase (CYP11B2)...
  67. Urata Y, Osuga Y, Akiyama I, Nagai M, Izumi G, Takamura M, et al. Interleukin-4 and prostaglandin E2 synergistically up-regulate 3?-hydroxysteroid dehydrogenase type 2 in endometrioma stromal cells. J Clin Endocrinol Metab. 2013;98:1583-90 pubmed publisher
    ..of the investigation was to study the effect of IL-4 on the expression of 3?-hydroxysteroid dehydrogenase (HSD3B2), a pivotal enzyme for estrogen production, in ESCs...
  68. Guven A, Polat S. Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. J Clin Res Pediatr Endocrinol. 2017;9:85-90 pubmed publisher
    ..These two patients are, to our knowledge, the first known cases of TARTs with a novel mutation in the HSD3?2 gene detected during childhood. High-dose hydrocortisone treatment is more reliable for TART in children. ..
  69. Baquedano M, Perez Garrido N, Goñi J, Saraco N, Aliberti P, Berensztein E, et al. DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex. Mol Cell Endocrinol. 2017;441:46-54 pubmed publisher
    ..mRNAs expression and methylation pattern of RARB, NR4A1 and HSD3B2 genes in human adrenal tissues (HAT) and in pediatric virilizing adrenocortical tumors (VAT) were analyzed...
  70. Simard J, Rheaume E, Sanchez R, Laflamme N, de Launoit Y, Luu The V, et al. Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency. Mol Endocrinol. 1993;7:716-28 pubmed
    ..abstract truncated at 400 words) ..
  71. Alos N, Moisan A, Ward L, Desrochers M, Legault L, Leboeuf G, et al. 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. J Clin Endocrinol Metab. 2000;85:1968-74 pubmed
    ..3betaHSD) deficiency is a rare form of congenital adrenal hyperplasia resulting from mutations in the HSD3B2 gene that impair steroidogenesis in both the adrenals and gonads and cause salt-wasting in both sexes and ..
  72. Pang S, Wang W, Rich B, David R, Chang Y, Carbunaru G, et al. A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2002;87:2556-63 pubmed
    ..The increased LH in the female with the frameshift genotype and the appropriate LH response in the female with the nonstop genotype correlated with predictably severe and mild ovarian type II 3beta-HSD deficiency, respectively. ..
  73. Martin L, Tremblay J. The human 3beta-hydroxysteroid dehydrogenase/Delta5-Delta4 isomerase type 2 promoter is a novel target for the immediate early orphan nuclear receptor Nur77 in steroidogenic cells. Endocrinology. 2005;146:861-9 pubmed
    ..Although the need for a functional 3beta-HSD2 enzyme is indisputable, the molecular mechanisms that regulate HSD3B2 expression (both basal and hormone-induced) in steroidogenic cells remain poorly understood...
  74. Pan Y, Zhong S, Hu R, Gong W. Mutation of 3?-hydroxysteroid dehydrogenase (3?-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency. Mol Med Rep. 2012;6:1305-8 pubmed publisher
    ..In conclusion, a family with 3?-HSD deficiency was identified in the present study. The cause of the disease in the studied family appears to be two novel homozygous mutations in the 3?-HSD gene. ..
  75. Sakuma I, Suematsu S, Matsuzawa Y, Saito J, Omura M, Maekawa T, et al. Characterization of steroidogenic enzyme expression in aldosterone-producing adenoma: a comparison with various human adrenal tumors. Endocr J. 2013;60:329-36 pubmed
    ..In resected adrenal glands (normal adrenals, APA, CPA, SCPA, and NFA), the mRNA expression levels of the CYP17, HSD3B2, CYP11B1, and CYP11B2 genes were studied using real-time quantitative PCR and immunohistochemistry...
  76. Bizzarri C, Massimi A, Federici L, Cualbu A, Loche S, Bellincampi L, et al. A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family. Horm Res Paediatr. 2016;86:53-61 pubmed publisher
    ..deficiency is a rare cause of congenital adrenal hyperplasia (CAH) caused by inactivating mutations in the HSD3B2 gene...
  77. Matsuyama T, Yabe K, Kuwata C, Ito K, Ando Y, Iida H, et al. Transcriptional profile of ethylene glycol monomethyl ether-induced testicular toxicity in rats. Drug Chem Toxicol. 2018;41:105-112 pubmed publisher
    ..In contrast, KET showed trends toward increases in Hsd3b2 and Hsd17b2 mRNAs, presumably resulting from inhibition of androgen synthesis...
  78. Zhang C, Wang M, He N, Ahmed M, Wang Y, Zhao R, et al. Hsd3b2 associated in modulating steroid hormone synthesis pathway regulates the differentiation of chicken embryonic stem cells into spermatogonial stem cells. J Cell Biochem. 2018;119:1111-1121 pubmed publisher
    ..The analysis of the steroid hormones synthesis pathway demonstrated that 3beta-hydroxysteroid dehydrogenase2 (Hsd3b2) plays a major role in the synthesis of testosterone...
  79. Mebarki F, Sanchez R, Rheaume E, Laflamme N, Simard J, Forest M, et al. Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene. J Clin Endocrinol Metab. 1995;80:2127-34 pubmed
    ..abstract truncated at 400 words) ..
  80. Sanchez R, Mebarki F, Rheaume E, Laflamme N, Forest M, Bey Omard F, et al. Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia. Hum Mol Genet. 1994;3:1639-45 pubmed
    ..3% and 0.2% for the L108W and P186L enzymes, respectively.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  81. Rheaume E, Sanchez R, Mebarki F, Gagnon E, Carel J, Chaussain J, et al. Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD. Biochemistry. 1995;34:2893-900 pubmed
    ..Moreover, the expressed G15D and G15A proteins had decreased affinities for NAD+ with Km values of 113 microM and 148 microM, respectively, compared with 22 microM for normal type II 3 beta-HSD.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  82. Rheaume E, Sanchez R, Simard J, Chang Y, Wang J, Pang S, et al. Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 1994;79:1012-8 pubmed
  83. Thomas J, Mason J, Brandt S, Norris W. Differences in substrate and inhibitor kinetics of human type 1 and type 2 3beta-hydroxysteroid dehydrogenase are explained by the type 1 mutant, H156Y. Endocr Res. 2002;28:471-5 pubmed
    ..Thus, H156 in WT 1 vs. Y156 in WT 2 accounts for the substantially higher affinity of WT 1 3beta-HSD activity for these substrate and inhibitor steroids relative to the WT 2 enzyme. ..
  84. Carbunaru G, Prasad P, Scoccia B, Shea P, Hopwood N, Ziai F, et al. 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. J Clin Endocrinol Metab. 2004;89:783-94 pubmed
    ..and gonadotropin secretion in HF with compromised ( downward arrow ) adrenal HSD3B phenotype despite normal HSD3B2 genes (n = 6) to those in HF with classic PCOS (n = 9) of similar ages (14-36 yr)...
  85. Bassett M, Suzuki T, Sasano H, de Vries C, Jimenez P, Carr B, et al. The orphan nuclear receptor NGFIB regulates transcription of 3beta-hydroxysteroid dehydrogenase. implications for the control of adrenal functional zonation. J Biol Chem. 2004;279:37622-30 pubmed
    3beta-Hydroxysteroid dehydrogenase type 2 (HSD3B2) is a steroid-metabolizing enzyme that is essential for adrenal production of mineralocorticoids and glucocorticoids...
  86. Samandari E, Kempna P, Nuoffer J, Hofer G, Mullis P, Flück C. 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. J Endocrinol. 2007;195:459-72 pubmed
    ..Expression of the 3beta-hydroxysteroid dehydrogenase (HSD3B2), cytochrome b5, and sulfonyltransferase genes is higher in NCI-H295A cells, whereas expression of the cytochrome ..
  87. Chang X, Zhao Y, Ju S, Guo L. Orexin-A stimulates 3β-hydroxysteroid dehydrogenase expression and cortisol production in H295R human adrenocortical cells through the AKT pathway. Int J Mol Med. 2014;34:1523-8 pubmed publisher
    ..On the whole, our data demonstrate that the effects of orexin-A on the survival and function of human adrenocortical cells are mediated through the AKT signaling pathway. ..
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  90. Lachance Y, Luu The V, Labrie C, Simard J, Dumont M, de Launoit Y, et al. Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells. J Biol Chem. 1990;265:20469-75 pubmed
  91. Moisan A, Ricketts M, Tardy V, Desrochers M, Mebarki F, Chaussain J, et al. 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 enzy. J Clin Endocrinol Metab. 1999;84:4410-25 pubmed
    ..adrenal hyperplasia that impairs steroidogenesis in both the adrenals and gonads resulting from mutations in the HSD3B2 gene and causing various degrees of salt-wasting in both sexes and incomplete masculinization of the external ..
  92. Marui S, Castro M, Latronico A, Elias L, Arnhold I, Moreira A, et al. Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. Clin Endocrinol (Oxf). 2000;52:67-75 pubmed
    Most previous studies have failed to demonstrate any mutations in the type II 3beta hydroxysteroid dehydrogenase (HSD3B2) gene in patients satisfying the hormonal criteria of nonclassic 3beta-hydroxysteroid dehydrogenase deficiency, ..