HSD3B2 explained

HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2.^[1] It is expressed principally in steroidogenic tissues and is essential for steroid hormone production.^[2] A notable exception is the placenta, where HSD3B1 is critical for progesterone production by this tissue.

Mutations in the HSD3B2 gene result in the condition congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

Further reading

• Simard J, Durocher F, Mébarki F, etal . Molecular biology and genetics of the 3 beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family. . J. Endocrinol. . 150 Suppl . S189–207 . 1996 . 8943802 . 10.1677/joe.0.150S189 . 31 January 2024 .
• Zachmann M, Forest MG, De Peretti E . 3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age. . Horm. Res. . 11 . 6 . 292–302 . 1980 . 295036 . 10.1159/000179067 .
• Rhéaume E, Simard J, Morel Y, etal . Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. . Nat. Genet. . 1 . 4 . 239–45 . 1993 . 1363812 . 10.1038/ng0792-239 . 26468595 .
• Lachance Y, Luu-The V, Verreault H, etal . 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. . 10 . 10 . 701–11 . 1992 . 1741954 . 10.1089/dna.1991.10.701 .
• Rhéaume E, Lachance Y, Zhao HF, etal . 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. . 5 . 8 . 1147–57 . 1991 . 1944309 . 10.1210/mend-5-8-1147 . free .
• Morrison N, Nickson DA, McBride MW, etal . Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation. . Hum. Genet. . 87 . 2 . 223–5 . 1991 . 2066113 . 10.1007/BF00204189 . 38702281 .
• Mébarki F, Sanchez R, Rhéaume E, etal . Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene. . J. Clin. Endocrinol. Metab. . 80 . 7 . 2127–34 . 1995 . 10.1210/jcem.80.7.7608265 . 7608265 .
• Katsumata N, Tanae A, Yasunaga T, etal . 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. . 4 . 4 . 745–6 . 1995 . 7633426 . 10.1093/hmg/4.4.745 .
• Tajima T, Fujieda K, Nakae J, etal . Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency. . Hum. Mol. Genet. . 4 . 5 . 969–71 . 1995 . 7633460 . 10.1093/hmg/4.5.969 .
• Sanchez R, Mébarki F, Rhéaume E, etal . 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. . 3 . 9 . 1639–45 . 1995 . 7833923 . 10.1093/hmg/3.9.1639 .
• Rhéaume E, Sanchez R, Mébarki F, etal . 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 . 34 . 9 . 2893–900 . 1995 . 7893703 . 10.1021/bi00009a020 .
• Rhéaume E, Sanchez R, Simard J, etal . Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency. . J. Clin. Endocrinol. Metab. . 79 . 4 . 1012–8 . 1994 . 10.1210/jcem.79.4.7962268 . 7962268 .
• Russell AJ, Wallace AM, Forest MG, etal . Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss. . J. Mol. Endocrinol. . 12 . 2 . 225–37 . 1994 . 8060486 . 10.1677/jme.0.0120225 .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Sanchez R, Rhéaume E, Laflamme N, etal . Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency . J. Clin. Endocrinol. Metab. . 78 . 3 . 561–7 . 1994 . 10.1210/jcem.78.3.8126127 . 8126127 .
• Mendonça BB, Russell AJ, Vasconcelos-Leite M, etal . Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females . J. Mol. Endocrinol. . 12 . 1 . 119–22 . 1994 . 8185809 . 10.1677/jme.0.0120119 .
• Chang YT, Kappy MS, Iwamoto K, etal . 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. . 34 . 5 . 698–700 . 1994 . 8284113 . 10.1203/00006450-199311000-00026 . 25960239 . free .
• Simard J, Rhéaume E, Sanchez R, etal . Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency . Mol. Endocrinol. . 7 . 5 . 716–28 . 1993 . 10.1210/mend.7.5.8316254 . 8316254 . free .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .

Notes and References

1. Web site: Entrez Gene: HSD3B2 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2.
2. Pelletier G, Dupont E, Simard J, Luu-The V, Bélanger A, Labrie F . Ontogeny and subcellular localization of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) in the human and rat adrenal, ovary and testis . J. Steroid Biochem. Mol. Biol. . 43 . 5 . 451–67 . October 1992 . 1390295 . 10.1016/0960-0760(92)90084-V. 53250659 .