17-beta-hydroxysteroid dehydrogenase deficiency genotyping
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 a condition with genotypically male and phenotypically female characteristics. There has been no phenotype to genotype correlation.
Genotyping
- 17 beta hydroxysteroid dehydrogenase deficiency is a condition with genotypically male and phenotypically female characterstics. There has been no phenotype to genotype correlation.[1]
References
- ↑ George MM, New MI, Ten S, Sultan C, Bhangoo A (2010). “The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency”. Horm Res Paediatr. 74 (4): 229–40. doi:10.1159/000318004. PMID 20689261.
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