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Normal Function
The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. This enzyme is active in the male gonads (testes), where it helps to produce the male sex hormone testosterone from a precursor hormone called androstenedione.
Health Conditions Related to Genetic Changes
17-beta hydroxysteroid dehydrogenase 3 deficiency
More than 20 mutations that cause 17-beta hydroxysteroid dehydrogenase 3 deficiency have been identified in the HSD17B3 gene. In the Arab population of Gaza, where the condition is most common, almost all affected individuals have two copies of the same mutation. This mutation replaces the protein building block (amino acid) arginine with the amino acid glutamine at protein position 80 (written as Arg80Gln or R80Q).
Mutations in the HSD17B3 gene result in a 17-beta hydroxysteroid dehydrogenase 3 enzyme with little or no activity, reducing testosterone production. A shortage of testosterone affects the development of the reproductive tract in the male fetus, resulting in the abnormalities in the external sex organs that occur in 17-beta hydroxysteroid dehydrogenase 3 deficiency.
More About This Health ConditionOther Names for This Gene
- 17-beta-HSD3
- DHB3_HUMAN
- EDH17B3
- estradiol 17 beta-dehydrogenase 3
- hydroxysteroid (17-beta) dehydrogenase 3
- SDR12C2
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, Schwarz HP, Blethen SL, Mendonca BB, Bloise W, Witchel SF, Cutler GB Jr, Griffin JE, Wilson JD, Russel DW. Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996 Jan;81(1):130-6. doi: 10.1210/jcem.81.1.8550739. Citation on PubMed
- Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, Rouwe CW, Mendonca BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL. 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab. 1999 Dec;84(12):4713-21. doi: 10.1210/jcem.84.12.6174. Citation on PubMed
- Faienza MF, Giordani L, Delvecchio M, Cavallo L. Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency. J Endocrinol Invest. 2008 Jan;31(1):85-91. doi: 10.1007/BF03345572. Citation on PubMed
- 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. Clin Endocrinol (Oxf). 2007 Jul;67(1):20-8. doi: 10.1111/j.1365-2265.2007.02829.x. Epub 2007 Apr 27. Citation on PubMed
- Margiotti K, Kim E, Pearce CL, Spera E, Novelli G, Reichardt JK. Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men. Prostate. 2002 Sep 15;53(1):65-8. doi: 10.1002/pros.10134. Citation on PubMed
- Moghrabi N, Hughes IA, Dunaif A, Andersson S. Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). J Clin Endocrinol Metab. 1998 Aug;83(8):2855-60. doi: 10.1210/jcem.83.8.5052. Citation on PubMed
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