Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
October 2012
in “
Seminars in reproductive medicine
”
androgen biosynthesis 46,XY disorders of sexual development DSD genetic defects androgen production androgen-dependent diseases lipoid congenital adrenal hyperplasia CAH P450 oxidoreductase deficiencies POR deficiencies steroidogenesis backdoor pathway dihydrotestosterone DHT paracrine factor male genital development male sexual differentiation 46,XY DSD lipoid CAH
Studysummary This review describes how recent discoveries in genetic defects and alternative pathways in androgen biosynthesis are reshaping our understanding of male sexual differentiation, but it presents no new clinical findings.
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