{"title":"泌尿生殖窦畸形:从发育到治疗。","authors":"Yu Ding, Yaping Wang, Yiqing Lyu, Hua Xie, Yichen Huang, Min Wu, Fang Chen, Zhongzhong Chen","doi":"10.5582/irdr.2023.01027","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.1000,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242390/pdf/irdr-12-78.pdf","citationCount":"0","resultStr":"{\"title\":\"Urogenital sinus malformation: From development to management.\",\"authors\":\"Yu Ding, Yaping Wang, Yiqing Lyu, Hua Xie, Yichen Huang, Min Wu, Fang Chen, Zhongzhong Chen\",\"doi\":\"10.5582/irdr.2023.01027\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":14420,\"journal\":{\"name\":\"Intractable & rare diseases research\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2023-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242390/pdf/irdr-12-78.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Intractable & rare diseases research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5582/irdr.2023.01027\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Intractable & rare diseases research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5582/irdr.2023.01027","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Urogenital sinus malformation: From development to management.
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.