Prenatal diagnosis of congenital adrenal hyperplasia

Steven L. Warsos, John W. Larsen, Stephen G. Kent, Kenneth N. Rosenbaum, Gilbert P. August, Claude J. Migeon, Joseph D. Schulman

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)751-754
Number of pages4
JournalObstetrics and gynecology
Volume55
Issue number6
StatePublished - Jun 1980

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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