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...

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Bibliographic Details
Published in:The Journal of pediatrics 1999-07, Vol.135 (1), p.71-75
Main Authors: Al-Alwan, Ibrahim, Navarro, Oscar, Daneman, Denis, Daneman, Alan
Format: Article
Language:English
Subjects:
17-alpha-Hydroxyprogesterone - blood
Adrenal Hyperplasia, Congenital - diagnostic imaging
Biological and medical sciences
Child
Child, Preschool
Diagnosis, Differential
Disorders of Sex Development - diagnosis
Disorders of Sex Development - etiology
Endocrine glands
Female
Fetal Diseases - drug therapy
Glucocorticoids - therapeutic use
Humans
Infant
Infant, Newborn
Investigative techniques, diagnostic techniques (general aspects)
Male
Medical sciences
Pregnancy
Retrospective Studies
Sensitivity and Specificity
Ultrasonic investigative techniques
Ultrasonography
Water-Electrolyte Imbalance - diagnosis
Water-Electrolyte Imbalance - etiology
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Summary: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 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. (J Pediatr 1999;135:71-5.)
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(99)70330-6