Genitourinary anomalies in the charge association

David C. Ragan, Anthony J. Casale, Richard C. Rink, Mark P. Cain, David D. Weaver

Research output: Contribution to journalArticle

45 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)622-625
Number of pages4
JournalJournal of Urology
Volume161
Issue number2
DOIs
StatePublished - Feb 1999

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Keywords

  • Abnormalities
  • Choanal atresia
  • Urogenital system

ASJC Scopus subject areas

  • Urology

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