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Sonography in prenatal diagnosis of congenital adrenal hyperplasia
Author(s) -
Saada Julien,
Grebille AnneGaëlle,
Aubry MarieCécile,
Rafii Arash,
Dumez Yves,
Benachi Alexandra
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.948
Subject(s) - congenital adrenal hyperplasia , proband , prenatal diagnosis , medicine , 21 hydroxylase , hyperplasia , endocrinology , family history , pregnancy , pediatrics , fetus , mutation , biology , genetics , gene
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with an incidence of 1/15 000. More than 90% of CAH cases result from mutations of CYP21, leading to 21‐hydroxylase deficiency. In its classical form, CAH is severe and consists of the virilizing (increase of androgens) and salt‐wasting (lack of aldosterone) phenotype. When a proband exists, early prenatal diagnosis for CAH can be performed by direct molecular analysis in the first trimester. We describe herein two cases suggesting that the prenatal diagnosis of CAH can be initiated by the sonographic appearance of the adrenal gland at the second‐trimester scan in the absence of a family history. Copyright © 2004 John Wiley & Sons, Ltd.