Amniotic Fluid Steroid Levels: Fetuses With Adrenal Hyperplasia, 46,XXY Fetuses, and Normal Fetuses

Concentrations of testosterone, androstenedione, dehydroepiandrosterone (DHA), DHA sulfate (DHAS), progesterone, 17α-hydroxyprogesterone (17-OHP), and hydrocortisone were determined in amniotic fluid obtained at amniocentesis or at elective cesarean section. Male fetuses had significantly higher concentrations of testosterone and androstenedione than female fetuses had between 15 and 21 weeks of gestation but not near term (36 to 40 weeks). In both sexes, progesterone and 17-OHP concentrations fell and DHA, DHAS, and hydrocortisone concentrations increased significantly with advancing gestational age. Amniotic fluid 17-OHP, testosterone, DHA, and androstenedione levels from female fetuses with congenital adrenal hyperplasia (CAH) were more elevated in the second trimester than in the third. Three female fetuses at risk for CAH, but not affected, had normal steroid concentrations. Steroid concentrations from two fetuses with Klinefelter’s syndrome were not abnormal.