Sonography in prenatal diagnosis of congenital adrenal hyperplasia.
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.
Saada
Julien
J
Maternité Hôpital Necker-Enfants Malades, AP-HP-Université, Cedex, France.
Grebille
Anne-Gaëlle
AG
Aubry
Marie-Cécile
MC
Rafii
Arash
A
Dumez
Yves
Y
Benachi
Alexandra
A
D000311:Adrenal Glands / Q000000981:diagnostic imaging / Q000196:embryology; D000312:Adrenal Hyperplasia, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D015193:Chorionic Villi Sampling; D003907:Dexamethasone / Q000008:administration & dosage; D012734:Disorders of Sex Development / Q000000981:diagnostic imaging; D005260:Female; D005835:Genitalia / Q000000981:diagnostic imaging; D005865:Gestational Age; D005938:Glucocorticoids / Q000008:administration & dosage; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D016216:Ultrasonography, Prenatal
D005938:Glucocorticoids; D003907:Dexamethasone; D013255:Steroid 21-Hydroxylase