Urogenital sinus (UGS) malformation, also known as persistent urogenital sinus (PUGS), is a rare congenital malformation of the urogenital system. It arises when the urethra and vaginal opening fail to form properly in the vulva and fuse incorrectly. PUGS can occur as an isolated abnormality or as part of a complex syndrome, and is frequently associated with congenital adrenal hyperplasia (CAH). The management of PUGS is not well-established, and there are no standardized guidelines on when to perform surgery or how to follow up with patients over the long term. In this review, we discuss the embryonic development, clinical evaluation, diagnosis, and management of PUGS. We also review case reports and research findings to explore best practices for surgery and follow-up care, in hopes of increasing awareness of PUGS and improving patient outcomes.

Genital reconstruction in female patients with virilizing congenital adrenal hyperplasia (CAH) is very challenging. Our aim was to evaluate the techniques employed to treat complications after failure of primary urogenital sinus (UGS) surgery, as well as the result of these reoperations. Twenty girls with virilizing CAH who were previously submitted to genitoplasty in our service and elsewhere had recurrent UGS stenosis and vaginal introitus stenosis that required surgical treatment. The main symptoms were recurrent urinary tract infection (UTI) in nine, dyspareunia in six, and hematocolpos in three (two associated with sepsis). The anatomical findings were the persistence of UGS with stenosis in 17 patients and vaginal introitus stenosis in 3. The mean age at procedure was 15.2 years, averaging 13.1 years after the first surgery. The surgical techniques employed were isolated perineal flap in 17 patients and perineal flap with partial mobilization of UGS in 3. The mean follow-up after the procedure was 4.8 years (varying from 1 to 17 years). Vaginal dilations were performed after surgery in 15 patients. Good functional and anatomical results were obtained in 15 patients, with vaginal introitus amenable to dilators of 3.0 cm in diameter. Five patients with high vaginal insertion had recurrent vaginal stenosis and required a surgical revision. No patients presented menstrual obstruction or UTI after surgery. Eight of the 15 adult patients are sexually active. The reoperation to treat failed primary UGS treatment using Y-V flap and partial mobilization techniques associated with vaginal dilations, promoted good anatomical, and functional results with low morbidity in 75% of the patients.