17-beta-hydroxysteroid dehydrogenase deficiency physical examination

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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

Majority of affected babies with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with external genitalia that appear female.

Physical Examination

• Majority of affected babies with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with external genitalia that appear female.
• In few cases, the external genitalia are ambiguous genitalia. Some other affected infants have male predominant external genitalia, with small penis micropenis or hypospadias. During puberty, the affected individuals develop some male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern facial and body hair and gynecomastia.