HSD17B3 explained

17β-Hydroxysteroid dehydrogenase 3 (17β-HSD3) is an enzyme that in humans is encoded by the HSD17B3 gene and is involved in androgen steroidogenesis.^{[1] [2] [3]}

Function

See also: 17β-Hydroxysteroid dehydrogenase III deficiency.

This isoform of 17β-HSD is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in impaired virilization of genetically male infants, formerly termed male pseudohermaphroditism.^[4]

See also

• 17β-Hydroxysteroid dehydrogenase

Further reading

• Ademola Akesode F, Meyer WJ, Migeon CJ . Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency . Clinical Endocrinology . 7 . 6 . 443–52 . December 1977 . 598011 . 10.1111/j.1365-2265.1977.tb01336.x . 72297230 .
• Eckstein B, Cohen S, Farkas A, Rösler A . The nature of the defect in familial male pseudohermaphroditism in Arabs of Gaza . The Journal of Clinical Endocrinology and Metabolism . 68 . 2 . 477–85 . February 1989 . 2918056 . 10.1210/jcem-68-2-477 .
• Rösler A, Kohn G . Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency: studies on the natural history of the defect and effect of androgens on gender role . Journal of Steroid Biochemistry . 19 . 1B . 663–74 . July 1983 . 6310248 . 10.1016/0022-4731(83)90233-9 .
• Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, Schwarz HP, Blethen SL, Mendonca BB, Bloise W, Witchel SF, Cutler GB, Griffin JE, Wilson JD, Russel DW . Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency . The Journal of Clinical Endocrinology and Metabolism . 81 . 1 . 130–6 . January 1996 . 10.1210/jcem.81.1.8550739 . 8550739 . free .
• Rösler A, Silverstein S, Abeliovich D . A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females . The Journal of Clinical Endocrinology and Metabolism . 81 . 5 . 1827–31 . May 1996 . 10.1210/jcem.81.5.8626842 . 8626842 . 46093440 . free .
• Can S, Zhu YS, Cai LQ, Ling Q, Katz MD, Akgun S, Shackleton CH, Imperato-McGinley J . The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred . The Journal of Clinical Endocrinology and Metabolism . 83 . 2 . 560–9 . February 1998 . 10.1210/jcem.83.2.4535 . 9467575 . free .
• Moghrabi N, Hughes IA, Dunaif A, Andersson S . Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3) . The Journal of Clinical Endocrinology and Metabolism . 83 . 8 . 2855–60 . August 1998 . 10.1210/jcem.83.8.5052 . 9709959 . free .
• Bilbao JR, Loridan L, Audí L, Gonzalo E, Castaño L . A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism . European Journal of Endocrinology . 139 . 3 . 330–3 . September 1998 . 9758445 . 10.1530/eje.0.1390330 . 26522874 .
• Lindqvist A, Hughes IA, Andersson S . Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency . The Journal of Clinical Endocrinology and Metabolism . 86 . 2 . 921–3 . February 2001 . 10.1210/jcem.86.2.7172 . 11158067 . free .
• Lee YS, Kirk JM, Stanhope RG, Johnston DI, Harland S, Auchus RJ, Andersson S, Hughes IA . Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls . Clinical Endocrinology . 67 . 1 . 20–8 . July 2007 . 17466011 . 10.1111/j.1365-2265.2007.02829.x . 8349020 .

Notes and References

1. Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S . Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3 . Nature Genetics . 7 . 1 . 34–9 . May 1994 . 8075637 . 10.1038/ng0594-34 . 23241 .
2. Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jörnvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U . The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative . Chemico-Biological Interactions . 178 . 1–3 . 94–8 . March 2009 . 19027726 . 2896744 . 10.1016/j.cbi.2008.10.040 . 2009CBI...178...94P .
3. Web site: Entrez Gene: HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3.
4. Web site: Testosterone 17-beta-dehydrogenase deficiency - Conditions - GTR - NCBI. www.ncbi.nlm.nih.gov. en. 2017-03-17.