17-beta-hydroxysteroid dehydrogenase deficiency history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]
Overview
History and Symptoms
- 17-beta-hydroxysteroid dehydrogenase deficiency-3 is clinically characterized by either ambiguous external genitalia or complete female external genitalia at birth; As a consequence of impaired male sexual differentiation in 46XY individuals.
- Further investigations on ambiguous genitalia will eventually lead to findings of intersexuality.
- Severely impaired virilization (often complete absence of male sexual differentiation) can lead to development of female external genitalia.
- These females are often discovered when there is absence of menarche (first menstruation) and when they begin to virilize during puberty (slowly become more like a man; deepening of the voice, acne, male musculature etc).
- At careful examination, testis can often be found in the inguinal canal.[1]
References
- ↑ Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S; et al. (1999). "17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations". J Clin Endocrinol Metab. 84 (12): 4713–21. doi:10.1210/jcem.84.12.6174. PMID 10599740.