Genitourinary anomalies in the CHARGE association

J Urol. 1999 Feb;161(2):622-5.


Purpose: We identified the incidence and types of genital and urinary anomalies, and established a plan for evaluating the urinary system in the CHARGE association.

Materials and methods: We retrospectively reviewed the charts of 32 patients in whom the CHARGE association was diagnosed.

Results: Of the 32 patients identified 22 (69%) had genitourinary abnormalities. Genital anomalies, including micropenis, penile agenesis, hypospadias, chordee, cryptorchidism, a bifid scrotum, atresia of the uterus, cervix and vagina, and hypoplastic labia majora, labia minora and clitoris, were present in 18 patients (56%). Of the 24 patients who underwent renal ultrasound 10 (42%) were diagnosed with urinary tract anomalies including a solitary kidney, hydronephrosis, renal hypoplasia and duplex kidneys. Further evaluation revealed vesicoureteral reflux, neurogenic bladder secondary to spinal dysraphism, nephrolithiasis, ureteropelvic junction obstruction and a nonfunctioning upper pole in both duplex kidneys.

Conclusions: There is a high incidence of genitourinary anomalies in the CHARGE association. Because of this high incidence of anomalies, patients with this condition should undergo a careful genitourinary evaluation, including renal and bladder ultrasound, and voiding cystourethrography screening.

MeSH terms

  • Abnormalities, Multiple* / epidemiology
  • Child
  • Choanal Atresia
  • Coloboma
  • Deafness
  • Female
  • Genitalia / abnormalities
  • Growth Disorders
  • Heart Diseases / congenital
  • Humans
  • Incidence
  • Intellectual Disability
  • Male
  • Nervous System Malformations
  • Retrospective Studies
  • Syndrome
  • Urogenital Abnormalities* / epidemiology