Upper-tract genitourinary malformations in girls with congenital adrenal hyperplasia

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.

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

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.

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.