17-beta-hydroxysteroid dehydrogenase deficiency history and symptoms
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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.