Chapter 10 - Genitourinary abnormalities in association with 22q11.2 deletion syndrome

Abstract

Genitourinary tract abnormalities affect approximately one-third of patients with 22q11.2DS. The most common include hydronephrosis, unilateral renal agenesis, multicystic dysplastic kidney, and hypoplastic kidney. Ureteral and bladder anomalies, such as vesicoureteral reflux and megaureter, have a lower incidence than renal anomalies, and the majority of urinary tract findings will resolve spontaneously without intervention. While genital abnormalities are less commonly identified than urinary anomalies, the incidence is higher in males compared with females. Most common genital findings in males are cryptorchidism and hypospadias, the majority of which are mild, and in females are absent vagina and/or uterus. Prevalence of lower urinary tract dysfunction (formerly called voiding dysfunction) in these children is likely higher than the general population due to associated developmental delay in children with 22q11.2DS, although exact estimates are unknown. Overall, given the higher rates of hydronephrosis, unilateral renal agenesis, and multicystic dysplastic kidney in patients with 22q11.2DS compared with the general population, all patients with 22q11.2DS should undergo screening with a renal/bladder ultrasound at time of diagnosis.