The Molecular Basis of Steroid 5α-Reductase Deficiency in a Large Dominican Kindred

Anice E. Thigpen, Daphne L. Davis, Teofilo Gautier, Julianne Imperato-Mcginley, David W. Russell

Research output: Contribution to journalArticlepeer-review

109 Scopus citations

Abstract

PSEUDOHERMAPHRODITISM in men is often caused by genetic deficiencies in the production or action of androgens.1 , 2 One form of this condition is a deficiency of steroid 5α-reductase, the enzyme that catalyzes the conversion of testosterone to dihydrotestosterone in androgen-sensitive tissues.3 , 4 Affected persons have 46,XY karyotypes. At birth, they have normal male structures derived from the wolffian duct, but defects in the external genitals ranging from simple hypospadias to a blind vaginal pouch and clitorislike phallus. The most common defect is a urogenital sinus with a blind vaginal pouch.1 2 3 4 During puberty, the affected boys undergo various degrees of virilization.3 Affected females…

Original languageEnglish (US)
Pages (from-to)1216-1219
Number of pages4
JournalNew England Journal of Medicine
Volume327
Issue number17
DOIs
StatePublished - Oct 22 1992

ASJC Scopus subject areas

  • Medicine(all)

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