Determination of 14 steroid hormones in amniotic fluid (AF): its usefulness in the antenatal diagnosis of 21-hydroxylase deficiency

Abstract

In 63 AF of normal pregnancies (14-20 wks), AF levels of testoster one (T), androstenedione (Δ4) were higher in males, while those of pregnenolone (Preg), 17OH-pregnenolone (17OH-preg), 17OH-progesterone (OHP), DHA, Δ5-androstenediol and 17β -estradiol were slightly but significantly higher in females. There was no sex difference in AF levels of preg. sulfate (PS) or DHA sulfate, progesterone, estrone, cortisol and cortisone. Among 4 pregnancies at risk for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase defect, antenatal diagnosis (Dgs) of CAH was made in 1, on the high AF levels of OHP and confirmed at birth. We then investigated whether estimating AF levels of other steroids could consolidate the Dgs. In the AF of the affected girl, T, Δ4 were also drastically elevated, PS, preg and 170Hpreg were just above normal limits (NL), while the other hormones were normal. Similarly T, Δ4 and OHP were drastically elevated in the peripheral blood at birth. In contrast none of the estimations in the cord blood would have made the dgs with certainty, although OHP was above normal. In conclusion the simultaneous measurement of T, Δ4 and OHP may prove to be safer for the definitive antenatal dgs of CAH than single hormone analysis.