Genitourinary malformations in chromosome 22q11.2 deletion.

PURPOSE: We reviewed our experience with genitourinary malformations associated with chromosome 22q11.2 deletion.

MATERIALS AND

METHODS

We retrospectively reviewed patient intake charts at the 22q clinic at our institution. We assessed 73 renal/bladder ultrasounds and 7 autopsies performed between 1998 and 2000 for renal and bladder malformations. A total of 149 male patients were evaluated for possible testicular and urethral malformations.

RESULTS

Of 80 patients 25 (31%) had a structural urinary tract anomaly. Another 8 patients had renal agenesis or multicystic dysplastic kidney, 4 had hydronephrosis and 5 had vesicoureteral reflux or an irregular bladder, while 8 of 73 (11%) had dysfunctional voiding, 9 of 149 (6%) had undescended testes and 12 of 149 (8%) had hypospadias.

CONCLUSIONS

Screening renal/bladder ultrasound, careful voiding history and medical but not surgical therapy are recommended for renal and bladder anomalies associated with 22q11.2 deletion. The need for surgery for cryptorchidism and hypospadias is slightly higher than in the general population.