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  • Title: Prenatal diagnosis of congenital adrenal hyperplasia.
    Author: Warsof SL, Larsen JW, Kent SG, Rosenbaum KN, August GP, Migeon CJ, Schulman JD.
    Journal: Obstet Gynecol; 1980 Jun; 55(6):751-4. PubMed ID: 7383464.
    Abstract:
    In patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, the concentrations of the cortisol precursor 17-alpha hydroxyprogesterone (17-OHP) and its metabolite delta 4-androstenedione (delta 4 A) are increased. CAH was diagnosed in twins by measurement of 17-OHP and delta 4 A concentrations in amniotic fluid obtained by amniocentesis from both amniotic cavities at 17 weeks' gestation. Both prenatal karyotypes were 46,XX. Spontaneous labor and delivery of 2 nonviable fetuses with genital masculinization occurred at 26 weeks' gestation. It is concluded that delta 4 A measurement, like 17-OHP quantitation, is valuable in the prenatal diagnosis of CAH; that both methods appear useful in prediction of CAH in twin fetuses; and that abnormal adrenal-mediated masculinization in female CAH is well established before the end of the second trimester.
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