Abstract
We reviewed our experience with genitourinary malformations associated with chromosome 22q11.2 deletion. 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. 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. 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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
