Inherited 5α-reductase deficiency in man

Abstract

Study of the syndrome of 5α-reductase deficiency in man has elucidated the importance of testosterone conversion to dihydrotestosterone in sexual differentiation of the male fetus. Insights into specific actions for testosterone and dihydrotestosterone in the fetal and adult male are suggested, as well as a role for androgens in male gender identity formation. Pedigree analysis and biochemical studies have elucidated the mode of inheritance of this gene defect.