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PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA

Warsos, Steven L. MD; Larsen, John W. MD; Kent, Stephen G. MD; Rosenbaum, Kenneth N. MD; August, Gilbert P. MD; Migeon, Claude J. MD; Schulman, Joseph D. MD
Obstetrics & Gynecology: June 1980
Case Reports: PDF Only

In patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, the concentrations of the cortisol precursor 17-α hydroxyprogesterone (17-OHP) and its metabolite Δ4-androstenedione (Δ4A) are increased. CAH was diagnosed in twins by measurement of 17-OHP and Δ4A 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 Δ4A 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.

© 1980 The American College of Obstetricians and Gynecologists