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Gene Review

HSD3B2  -  hydroxy-delta-5-steroid dehydrogenase, 3...

Homo sapiens

Synonyms: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II, 3-beta-HSD II, 3-beta-HSD adrenal and gonadal type, HSD3B, ...
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Disease relevance of HSD3B2

  • Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility [1].
  • Classical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency is an autosomal recessive form of congenital adrenal hyperplasia caused by mutations in the type II 3 beta-HSD (HSD3B2) gene [2].
  • Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping [3].
  • We conclude that subtle molecular abnormalities in the HSD3B2 gene may be observed in some patients with apparent idiopathic hypospadias but that this finding is uncommon [4].

Psychiatry related information on HSD3B2

  • In concert, these data promote a distinctive mechanism for normal human development whereby cortisol production, determined by transient NGFI-B and HSD3B2 expression, provides feedback at the anterior pituitary to modulate androgen biosynthesis and safeguard normal female sexual differentiation [5].

High impact information on HSD3B2


Biological context of HSD3B2

  • To evaluate the possible role of HSD3B genes in prostate cancer, we screened a panel of DNA samples collected from 96 men with or without prostate cancer for sequence variants in the putative promoter region, exons, exon-intron junctions, and 3'-untranslated region of HSD3B1 and HSD3B2 genes by direct sequencing [1].
  • The present report describes the identification of 8 mutations, in seven new families with individuals suffering from classical 3betaHSD deficiency, thus increasing the number of known HSD3B2 mutations involved in this autosomal recessive disorder to 31 (1 splicing, 1 in-frame deletion, 3 nonsense, 4 frameshift and 22 missense mutations) [8].
  • Cell transfection, mutation analysis, and EMSA were performed to examine the role of LRH-1 in the regulation of HSD3B2 [9].
  • After ovulation, ovarian 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) expression increases to enhance the shift of steroidogenesis toward progesterone biosynthesis [9].
  • To identify the molecular lesion(s) in the HSD3B2 gene in the 11 patients from the seven new families suffering from classical 3betaHSD deficiency, the complete nucleotide sequence of the whole coding region and exon-intron splicing boundaries of this gene was determined by direct sequencing [8].

Anatomical context of HSD3B2


Associations of HSD3B2 with chemical compounds

  • DAX-1 inhibited LRH-1-stimulated HSD3B2, which was maintained in the presence of dibutyryl cAMP [9].
  • HSD3B2 is a steroid-metabolizing enzyme that is essential for adrenal production of mineralocorticoids and glucocorticoids [11].
  • Microarray analysis of cortisol- versus DHEA sulfate-producing adrenal tissue demonstrated that NGIFB paralleled expression of HSD3B2 with expression much higher in cortisol-producing adrenal tissue; this observation was also demonstrated using real time reverse transcriptase-PCR analysis [7].
  • The HSD3B2 gene encodes the type II 3 beta-hydroxysteroid dehydrogenase: one of two enzymes that initiate the inactivation of DHT [13].
  • DESIGN: From 30 girls with premature pubarche, we selected 9 whose ACTH-stimulated 17-hydroxypregnenolone levels were elevated (> or =6 SD) and screened the HSD3B2 gene for mutations [14].

Physical interactions of HSD3B2

  • YY1 binding within the human HSD3B2 gene intron 1 is required for maximal basal promoter activity: identification of YY1 as the 3beta1-A factor [15].

Regulatory relationships of HSD3B2

  • These results suggest that NGFIB plays a crucial role in adrenal zonation by regulating HSD3B2 gene transcription [7].
  • CRH induced 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) by 34-fold, 21-hydroxylase (CYP21) by 55-fold, and 11beta-hydroxylase by 41-fold [16].

Other interactions of HSD3B2

  • Taken together, our identification of Nur77 as an important regulator of HSD3B2 promoter activity helps us to better define the tissue-specific and hormonal regulation of the HSD3B2 gene in steroidogenic cells [17].
  • Taken together these results suggest that the NGFI-B family of transcription factors plays a role in establishing the functional zonation of the human adrenal by regulating CYP11B2 and HSD3B2 gene transcription [11].
  • We constructed a high resolution genetic map of the region flanking the polymorphic HSD3B1 and HSD3B2 genes including ten Généthon markers and the two NIH/CEPH markers AMY2B and D1Z5 [18].
  • The D1S514 marker was thus closely linked to HSD3B1A (theta < 0.001; lod = 14.13) and HSD3B2 (theta = 0.008; lod = 35.36) [18].
  • Transient transfections demonstrated that NGFI-B family members enhanced HSD3B2 reporter activity but had no effect on a 17alpha-hydroxylase (CYP17) promoter construct [11].

Analytical, diagnostic and therapeutic context of HSD3B2


  1. Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. Chang, B.L., Zheng, S.L., Hawkins, G.A., Isaacs, S.D., Wiley, K.E., Turner, A., Carpten, J.D., Bleecker, E.R., Walsh, P.C., Trent, J.M., Meyers, D.A., Isaacs, W.B., Xu, J. Cancer Res. (2002) [Pubmed]
  2. Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273 delta AA in type II 3 beta-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin. Simard, J., Rhéaume, E., Leblanc, J.F., Wallis, S.C., Joplin, G.F., Gilbey, S., Allanson, J., Mettler, G., Bettendorf, M., Heinrich, U. Hum. Mol. Genet. (1994) [Pubmed]
  3. Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. Mermejo, L.M., Elias, L.L., Marui, S., Moreira, A.C., Mendonca, B.B., de Castro, M. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  4. Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias. Codner, E., Okuma, C., Iñiguez, G., Boric, M.A., Avila, A., Johnson, M.C., Cassorla, F.G. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  5. In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development. Goto, M., Piper Hanley, K., Marcos, J., Wood, P.J., Wright, S., Postle, A.D., Cameron, I.T., Mason, J.I., Wilson, D.I., Hanley, N.A. J. Clin. Invest. (2006) [Pubmed]
  6. Dinucleotide repeat polymorphisms in the HSD3B2 gene. Verreault, H., Dufort, I., Simard, J., Labrie, F., Luu-The, V. Hum. Mol. Genet. (1994) [Pubmed]
  7. The orphan nuclear receptor NGFIB regulates transcription of 3beta-hydroxysteroid dehydrogenase. implications for the control of adrenal functional zonation. Bassett, M.H., Suzuki, T., Sasano, H., De Vries, C.J., Jimenez, P.T., Carr, B.R., Rainey, W.E. J. Biol. Chem. (2004) [Pubmed]
  8. 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. Moisan, A.M., Ricketts, M.L., Tardy, V., Desrochers, M., Mébarki, F., Chaussain, J.L., Cabrol, S., Raux-Demay, M.C., Forest, M.G., Sippell, W.G., Peter, M., Morel, Y., Simard, J. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
  9. The role of the orphan nuclear receptor, liver receptor homologue-1, in the regulation of human corpus luteum 3beta-hydroxysteroid dehydrogenase type II. Peng, N., Kim, J.W., Rainey, W.E., Carr, B.R., Attia, G.R. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  10. Prominent sex steroid metabolism in human lymphocytes. Zhou, Z., Shackleton, C.H., Pahwa, S., White, P.C., Speiser, P.W. Mol. Cell. Endocrinol. (1998) [Pubmed]
  11. A role for the NGFI-B family in adrenal zonation and adrenocortical disease. Bassett, M.H., White, P.C., Rainey, W.E. Endocr. Res. (2004) [Pubmed]
  12. 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. Alos, N., Moisan, A.M., Ward, L., Desrochers, M., Legault, L., Leboeuf, G., Van Vliet, G., Simard, J. J. Clin. Endocrinol. Metab. (2000) [Pubmed]
  13. Genetic variation of 3 beta-hydroxysteroid dehydrogenase type II in three racial/ethnic groups: implications for prostate cancer risk. Devgan, S.A., Henderson, B.E., Yu, M.C., Shi, C.Y., Pike, M.C., Ross, R.K., Reichardt, J.K. Prostate (1997) [Pubmed]
  14. Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. Marui, S., Castro, M., Latronico, A.C., Elias, L.L., Arnhold, I.J., Moreira, A.C., Mendonca, B.B. Clin. Endocrinol. (Oxf) (2000) [Pubmed]
  15. YY1 binding within the human HSD3B2 gene intron 1 is required for maximal basal promoter activity: identification of YY1 as the 3beta1-A factor. Foti, D.M., Reichardt, J.K. J. Mol. Endocrinol. (2004) [Pubmed]
  16. Corticotropin-releasing hormone directly stimulates cortisol and the cortisol biosynthetic pathway in human fetal adrenal cells. Sirianni, R., Rehman, K.S., Carr, B.R., Parker, C.R., Rainey, W.E. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  17. 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. Martin, L.J., Tremblay, J.J. Endocrinology (2005) [Pubmed]
  18. Genetic linkage mapping of HSD3B1 and HSD3B2 encoding human types I and II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase close to D1S514 and the centromeric D1Z5 locus. Morissette, J., Rhéaume, E., Leblanc, J.F., Luu-The, V., Labrie, F., Simard, J. Cytogenet. Cell Genet. (1995) [Pubmed]
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