Published online August 1, 2007
PEDIATRICS Vol. 120 No. 2 August 2007, pp. e304-e307 (doi:10.1542/peds.2006-2993)
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ARTICLE

Upper-Tract Genitourinary Malformations in Girls With Congenital Adrenal Hyperplasia

Zeina M. Nabhan, MD and Erica A. Eugster, MD

Section of Pediatric Endocrinology/Diabetology, Department of Pediatrics, James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana

OBJECTIVE. The objective of this study was to determine the incidence, specific abnormalities, and clinical significance of upper-tract genitourinary malformations in girls with congenital adrenal hyperplasia.

METHODS. Medical charts of children who received a diagnosis of congenital adrenal hyperplasia between 1985 and 2005 were reviewed.

RESULTS. Of 107 patients with congenital adrenal hyperplasia, 66 girls were identified. Of these, 14 were found to have upper-tract genitourinary abnormalities. The anomalies consisted of vesicoureteral reflux grades 1 to 3 (9), hydronephrosis (4), and duplicated collecting system (1). Two boys with congenital adrenal hyperplasia and known upper-tract genitourinary anomalies were also identified. One had ureteropelvic junction obstruction, and the other had a left malrotated kidney with hydronephrosis. Four patients (1 boy, 3 girls) underwent surgery that consisted of ureteral reimplantation (2) and ureteral stent placement (2). The reflux eventually resolved in 3 patients and worsened in 1. Hydronephrosis improved in 1 patient. None of the patients developed any impairment in renal function.

CONCLUSION. The incidence of upper-tract genitourinary anomalies in girls with congenital adrenal hyperplasia is much higher in our cohort than in the general population (21.2% vs 2%–4%). This association represents a potentially significant medical issue because some patients may require surgical intervention and antibiotic prophylaxis to prevent urinary tract infections and impairment in renal function.

Key Words: congenital adrenal hyperplasia • genitourinary malformations • vesicoureteral reflux • ureteral reimplantation

Abbreviations: CAH—congenital adrenal hyperplasia • UTI—urinary tract infection • VCUG—voiding cystourethrogram • VUR—vesicoureteral reflux

Accepted Jan 26, 2007.