TY - JOUR
T1 - The Molecular Basis of Steroid 5α-Reductase Deficiency in a Large Dominican Kindred
AU - Thigpen, Anice E.
AU - Davis, Daphne L.
AU - Gautier, Teofilo
AU - Imperato-Mcginley, Julianne
AU - Russell, David W.
PY - 1992/10/22
Y1 - 1992/10/22
N2 - 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…
AB - 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…
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U2 - 10.1056/NEJM199210223271706
DO - 10.1056/NEJM199210223271706
M3 - Article
C2 - 1406794
AN - SCOPUS:0026803110
SN - 0028-4793
VL - 327
SP - 1216
EP - 1219
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 17
ER -