title: Sonography of congenital adrenal hyperplasia due to partial deficiency of 3beta-hydroxysteroid dehydrogenase: a case report.
abstract: We report the case of a patient with congenital adrenal hyperplasia (CAH) secondary to a partial deficiency of 3beta-hydroxysteroid dehydrogenase. This form occurs in less than 1 % of all patients with CAH. Sonographic evaluation of the adrenal glands demonstrated width and length measurements significantly above normal values. The sonographic findings are not diagnostic of the particular enzyme deficiency in CAH, and the exact etiology should be pursued with laboratory investigation.
authors.affiliation: Department of Diagnostic Radiology, Yale University School of Medicine, P. O. Box 208042, New Haven, CT 06520-8042, USA.
authors.forename: D
authors.initials: D
authors.lastname: Bentsen
authors.forename: D S
authors.initials: DS
authors.lastname: Schwartz
authors.forename: T O
authors.initials: TO
authors.lastname: Carpenter
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000312:Adrenal Hyperplasia, Congenital / Q000000981:diagnostic imaging* / Q000201:enzymology; D005260:Female; D006801:Humans; D007223:Infant; D014463:Ultrasonography
chemical_list: D015096:3-Hydroxysteroid Dehydrogenases