17-beta-hydroxysteroid dehydrogenase deficiency physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

On investigation 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 channel.

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