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Genitourinary anomalies in the CHARGE association
D C Ragan1, A J Casale, R C Rink
1Department of Urology, Indiana University School of Medicine, Indianapolis, USA.
The Journal of Urology
|January 23, 1999
Summary
Genitourinary anomalies are common in CHARGE association, affecting 69% of patients. A thorough genitourinary evaluation is recommended for early detection and management of these critical conditions.
Area of Science:
- Pediatric Urology
- Medical Genetics
- Congenital Anomalies
Background:
- CHARGE association is a rare genetic disorder with complex congenital malformations.
- Genitourinary (GU) anomalies are frequently observed but not always systematically evaluated.
Purpose of the Study:
- To determine the incidence and types of GU anomalies in patients with CHARGE association.
- To establish a recommended evaluation plan for the urinary system in this population.
Main Methods:
- Retrospective chart review of 32 patients diagnosed with CHARGE association.
- Analysis of documented genital and urinary tract abnormalities.
Main Results:
- A high prevalence of genitourinary abnormalities was found, with 69% of patients affected.
- Genital anomalies occurred in 56% of patients, including micropenis, hypospadias, and cryptorchidism.
- Urinary tract anomalies, such as solitary kidney and hydronephrosis, were identified in 42% of those with renal ultrasounds, with further complications noted.
Conclusions:
- Genitourinary anomalies are a significant feature of CHARGE association.
- Comprehensive GU evaluation, including renal/bladder ultrasound and voiding cystourethrography, is crucial for affected individuals.