17-beta-hydroxysteroid dehydrogenase deficiency overview

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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

17-beta-hydroxysteroid dehydrogenase deficiency is a rare disorder of sexual development which can produce impaired virilization (traditionally termed male pseudohermaphroditism) of genetically male infants and children and excessive virilization of female adults. It is inherited as an autosomal recessive condition and is one of the few disorders of sexual development that can affect the primary and/or secondary sex characteristics of both XX and XY persons.