Urogenital sinus malformation: From development to management

Abstract

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.

Keywords: PUGS; UGS; embryology; management; urogenital sinus malformation.

Figure 1.

Imaging morphology of persistent urogenital sinus. Ultrasound scan shows two different imaging morphology: (A) vaginal effusion (indicated by blue arrows) and (B) double uterus and double vaginal malformation; cystoscopy shows (C) common channel of urethra (red arrow) and vagina (black arrow).

Figure 2.

Total urogenital mobilization vaginoplasty method. (A) Initial perineal opening in a patient with PUGS; (B) Annular separation to release urogenital sinus; (C) Final appearance after surgery.