11-DEOXYCORTISOL IN AMNIOTIC FLUID: PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA DUE TO 11 β-HYDROXYLASE DEFICIENCY

Abstract
The mean control level of 11-deoxycortisol as determined by radioimmunoassay in eighty-one human amniotic fluid samples was 1·20 ± 0·07 ng/ml. Markedly elevated levels were found at term in amniotic fluid of two pregnancies with fetuses affected with 11 β-hydroxylase deficiency, congenital adrenal hyperplasia (135·0 and 64·0 ng/ml respectively) as well as in the maternal serum of one of these cases (28·0 ng/ml). It is suggested that the determination of 11-deoxycortisol in amniotic fluid be a prenatal diagnostic test for 11 β-hydroxylase deficiency congenital adrenal hyperplasia.