Sonographic findings in infants with congenital adrenal hyperplasia

Background: Congenital adrenal hyperplasia (CAH) results from several autosomal recessive errors in adrenal steroidogenesis, leading to masculinization of female fetuses and potential salt-losing crises in male and female infants. Definitive diagnosis of CAH is made with biochemical studies, but results are not immediately available. Our purpose is to assess the utility of sonography in the accurate diagnosis of CAH. Patients and methods: Sixteen patients with diagnosis of adrenogenital syndrome or ambiguous genitalia from January 1990 to January 1998 were identified: 9 patients with CAH, 7 patients without CAH who served as controls. Prospective sonographic diagnoses were correlated with biochemical diagnoses. Results: Of the 16 patients, 8 had prospectively enlarged adrenal glands, subsequently shown to have CAH due to 21-hydroxylase or 11β-hydroxylase deficiency. Adrenals were normal in a pretreated infant, and in available follow-up scans. The seven patients without CAH had prospectively normal adrenal ultrasounds. Conclusions: These data support the premise that sonography can be utilized as a rapid and accurate diagnostic tool in infants suspected of congenital adrenal hyperplasia.