11-deoxycortisol in amniotic fluid: prenatal diagnosis of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
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 beta-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 beta-hydroxylase deficiency congenital adrenal hyperplasia.
D015065:17-Hydroxycorticosteroids / Q000032:analysis*; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000201:enzymology; D000653:Amniotic Fluid / Q000032:analysis*; D003350:Cortodoxone / Q000032:analysis*; D005260:Female; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*
D015065:17-Hydroxycorticosteroids; D003350:Cortodoxone