17-beta-hydroxysteroid dehydrogenase deficiency molecular genetic studies
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]
Overview
17-beta-hydroxysteroid dehydrogenase deficiency is inherited in an autosomal recessive pattern.
Molecular genetic studies
- 17-beta-hydroxysteroid dehydrogenase deficiency is inherited in an autosomal recessive pattern.
- A molecular basis of this condition has been shown to be the result of any of twenty mutations in the HSD17B3 gene, a gene that is expressed predominately in the testes. [1]
References
- ↑ Mains LM, Vakili B, Lacassie Y, Andersson S, Lindqvist A, Rock JA (2008). “17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite”. Fertil Steril. 89 (1): 228.e13–7. doi:10.1016/j.fertnstert.2007.02.048. PMC 2259022. PMID 17509588.
© 2026 MyEClinic – IFTM Institut für Telematik in der Medizin GmbH