Urogenital sinus malformation: From development to management

Yu Ding; Yaping Wang; Yiqing Lyu; Hua Xie; Yichen Huang; Min Wu; Fang Chen; Zhongzhong Chen

doi:10.5582/irdr.2023.01027

Urogenital sinus malformation: From development to management

Intractable Rare Dis Res. 2023 May;12(2):78-87. doi: 10.5582/irdr.2023.01027.

Authors

Yu Ding¹, Yaping Wang¹, Yiqing Lyu^{1

2}, Hua Xie^{1

2}, Yichen Huang^{1

2}, Min Wu^{1

2}, Fang Chen^{1

2}, Zhongzhong Chen^{1

2

3}

Affiliations

¹ Department of Urology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
² Clinical Research Center For Hypospadias Pediatric College, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
³ Urogenital Development Research Center, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

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.

2023, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.

Publication types

Review