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11‐DEOXYCORTISOL IN AMNIOTIC FLUID: PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA DUE TO 11 β‐HYDROXYLASE DEFICIENCY
Author(s) -
SCHUMERT ZEWIJAH,
ROSENMANN ADA,
LANDAU HEDI,
RÖSLER ARIEL
Publication year - 1980
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.1980.tb02708.x
Subject(s) - congenital adrenal hyperplasia , amniotic fluid , endocrinology , medicine , 21 hydroxylase , radioimmunoassay , fetus , hyperplasia , prenatal diagnosis , pregnancy , biology , genetics
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.