Enlarged adrenal glands as a prenatal marker of congenital adrenal hyperplasia: a report of two cases

Abstract

We report the prenatal findings of congenital adrenal hyperplasia (CAH) in two consecutive fetuses of one family. The first pregnancy was terminated at 23 weeks' gestation due to the presence of a complex heart anomaly. The adrenal glands appeared enlarged on prenatal ultrasound examination and autopsy confirmed CAH. The parents were subsequently examined and were found to be heterozygous for nucleotide 656 of the CYP21B gene. In a subsequent pregnancy, chorionic villus sampling at 11 weeks confirmed CAH in the male fetus. At this gestational age, mild body edema was present and the nuchal translucency measured 2.1 mm. From 14 weeks onwards, enlargement of the adrenal glands was the only sign of CAH. These findings suggest that enlarged adrenal glands may be a prenatal sign for CAH. In fetal medicine, when a pregnancy is terminated due to fetal malformations, autopsy should be performed because it can provide additional information that is helpful in counseling women with regard to subsequent pregnancies.