THE MOLECULAR-BASIS OF STEROID 5-ALPHA-REDUCTASE DEFICIENCY IN A LARGE DOMINICAN KINDRED

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… © 1992, Massachusetts Medical Society. All rights reserved.