Clinical utility of adrenal ultrasonography in the diagnosis of congenital adrenal hyperplasia.
Rapid, accurate diagnosis of congenital adrenal hyperplasia (CAH) is essential in the neonate with ambiguous genitalia, life-threatening salt loss, or both. We aimed to determine the accuracy of adrenal ultrasonography in the diagnosis of CAH in a retrospective analysis of 52 children with ambiguous genitalia or salt-losing crises. Adrenal ultrasounds were interpreted as follows: "normal" if the adrenals were normal in size (adrenal limb width <4 mm), had a smooth surface, and a central echogenic stripe with a hypoechoic rim, and "abnormal" if they were increased in size (limb width >4 mm), had a lobulated or cerebriform surface, or showed abnormal echogenicity. Group 1 consisted of 25 neonates and infants with CAH; group 2, 19 children with conditions other than CAH; and group 3, 8 with treated CAH: 7 receiving replacement therapy and 1 whose mother received glucocorticoids during pregnancy. In all children in groups 2 and 3, adrenal ultrasounds were read as normal. In group 1 adrenal ultrasonography was normal in 2 (8%) and abnormal in 23 (92%). Thus adrenal ultrasonography has a sensitivity of 92% and a specificity of 100% for diagnosing CAH. Adrenal ultrasonography is a highly sensitive and specific adjunct in the diagnosis of CAH. The presence of enlarged, lobulated adrenals with stippled echogenicity is invariably associated with CAH.
Division of Endocrinology, Department of Pediatrics, The Hospital for Sick Children, and the University of Toronto, Toronto, Ontario, Canada.
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Al-Alwan
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Navarro
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Daneman
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Daneman
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000209:etiology; D005260:Female; D005315:Fetal Diseases / Q000188:drug therapy; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D014463:Ultrasonography; D014883:Water-Electrolyte Imbalance / Q000175:diagnosis* / Q000209:etiology
D005938:Glucocorticoids; D019326:17-alpha-Hydroxyprogesterone