Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder resulting from mutations in genes encoding enzymes essential for adrenal hormone synthesis. It affects roughly 1 in 15,000 individuals and can present with ambiguous genitalia, salt-wasting, and virilization. An 8-year-old girl with history of CAH and genitoplasty at age 2 presented with abdominal pain, brown perineal discharge, and fever (39°C). Labs were notable for leukocytosis (15 x 10^9/L). Transabdominal ultrasound (TAUS) revealed a fluid-filled uterus and vagina with layering echoes. MRI confirmed a distended, fluid-filled uterus and vagina with layering debris. The ovaries were normal. Differential included imperforate or microperforate hymen, lower vaginal atresia, transverse vaginal septum, and vaginal outlet obstruction due to scarring. On initial exam under anesthesia (EUA) findings of imperforate hymen were not present and placement of a speculum into an apparent narrowed vaginal introitus produced efflux of urine. Subsequent cystoscopy revealed that this channel led to the urinary bladder and a bladder catheter was placed. Following discussion among pediatric gynecology, pediatric urology, and interventional radiology (IR), a joint EUA and drainage procedure was performed in the IR suite. A diminutive vaginal opening was identified and a cystoscope was advanced into the vagina under TAUS. The cystoscope was exchanged for a catheter and a fluoroscopic contrast vaginogram was performed, showing stricture of the vaginal introitus. Balloon stricturoplasty was performed, a Foley catheter was placed into the vagina, and the vaginal fluid was drained. The urinary bladder catheter was replaced and the bladder was decompressed. After the procedure the patient's symptoms improved. Vaginal fluid culture grew E. faecalis. The patient was discharged with vaginal and bladder catheters in place and a 14-day antibiotic course. Subsequent EUA by pediatric urology confirmed a single urogenital orifice with urethrovaginal communication, consistent with urogenital sinus anomaly and urethrovaginal fistula. Definitive surgery was deferred due to the patient’s age. This case highlights the complexities of evaluating and treating children with urogenital anomalies and the importance of multidisciplinary collaboration in their management. Final diagnosis: Vaginal outlet obstruction due to stricture managed with balloon dilation; urogenital sinus anomaly and urethrovaginal fistula secondary to CAH. Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Tran Patrick, Kang Lisa, Gundeti Mohan, Long Jessica, Brown Colin

Keywords: Interventional Radiology, Genitourinary, Urogenital Sinus