17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]

The characteristic phenotype at birth is an XY individual with female or ambiguous external genitalia. The majority of those affected have female external genitalia and consequently are raised as girls.

• The characteristic phenotype at birth is an XY individual with female or ambiguous external genitalia.
• The majority of those affected have female external genitalia and consequently are raised as girls.
• 17 beta hydroxysteroid dehydrogenase deficiency has two features;
  • Presence of wolffian duct derivatives (epididymus, vas deferens, and seminal vesicles).
  • Progressive virilization at the time of puberty, both of which depend on the action of testosterone.
• During puberty, individuals with this disease develop some male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern facial and body hair.
• Some affected individuals may also experience gynecomastia. People with this disorder are generally infertile.^[1]

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