BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition leading to deficient cortisol with an incidence of 1/16,000.
Patients with CAH typically present early with ambiguous genitalia or as an emergency with adrenal crisis.
CASE: We report an atypical late presentation of a 4-year-old girl with pubertal-like symptoms and urinary incontinence, due to a persistent urogenital sinus (UGS). An early vaginoplasty was successfully performed allowing the patient to achieve continence.
CONCLUSION: Literature describing the symptoms of CAH with UGS is scarce. The case is unusual in demonstrating pubertal-like symptoms and urinary incontinence due to the late presentation of a persistent UGS, highlighting the need for an open mind in assessment of children with urinary incontinence. Timing of surgery is controversial, and cases need to be considered on an individual basis.
Written by:
Chan BK, Turnock RR, McAndrew HF. Are you the author?
Department of Paediatric Surgery, Alder Hey Children's Hospital, Eaton Road, Liverpool L12 2AP, United Kingdom.
Reference: J Pediatr Adolesc Gynecol. 2013 Apr 16. pii: S1083-3188(13)00101-0.
doi: 10.1016/j.jpag.2013.02.005
PubMed Abstract
PMID: 23602038
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