Adult congenital adrenal hyperplasia presenting with severe clitoromegaly and distal vaginal stenosis: A reconstructive surgical case report

TL;DR

A 30-year-old woman with congenital adrenal hyperplasia underwent successful reconstructive surgery to address genital abnormalities and restore normal function.

Contribution

This case report highlights the successful surgical management of adult CAH with complex urogenital reconstruction.

Findings

MRI revealed a short urogenital sinus with distal vaginal stenosis and marked clitoral enlargement.

The patient achieved normal urinary and menstrual function post-surgery with preserved clitoral sensation.

The case demonstrates the feasibility of nerve-sparing urogenital reconstruction in adult CAH patients.

Abstract

Congenital adrenal hyperplasia (CAH) usually causes genital virilization managed in early childhood; adult presentation with severe clitoromegaly and persistent urogenital sinus is rare. We report a 30-year-old woman with CAH presenting with clitoromegaly and menstrual flow during urination only.MRI demonstrated a short urogenital sinus with distal vaginal stenosis and marked clitoral enlargement. Multidisciplinary reconstruction included neurovascular-sparing clitoroplasty, complete urethrovaginal separation, distal vaginoplasty, and labial reconstruction. Postoperatively, the patient achieved normal urinary and menstrual function, preserved clitoral sensation, and satisfactory cosmetic results without complications. This case demonstrates the feasibility of complex nerve-sparing urogenital reconstruction in adult CAH patients.

Figures