17-beta-hydroxysteroid dehydrogenase deficiency historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Historical Perspective
- 17 beta hydroxysteroid dehydrogenase III defiency is initially described in 1971 by Saez and his colleagues.
- Patients with XY chromosomes usually present at birth with female or ambiguous external genitalia.
- Two important features of this disease are the presence of epididymus, vas deferens, and seminal vesicles and the progressive virilization at the time of puberty. To date, At least 20 mutations have been reported in the 17-beta-HSD type 3 isozyme gene (HSD17B3), localized to 9q22.
- These are mainly missense/nonsense mutations. Genetically, patients can be homozygous or compound heterozygous.[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.