The Molecular Basis of Steroid 5α-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…