Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
17-beta-hydroxysteroid dehydrogenase deficiency history and symptoms
Introduction
Overview
Overview
History and Symptoms
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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]