Wissam Arab, Yara Abdelkhalek, Antoine Zoghbi, David Atallah
{"title":"Herlyn-Werner-Wunderlich综合征的晚期诊断:是否需要早期筛查?","authors":"Wissam Arab, Yara Abdelkhalek, Antoine Zoghbi, David Atallah","doi":"10.1111/cga.12542","DOIUrl":null,"url":null,"abstract":"Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly related to an abnormal development of the Mullerian ducts during organogenesis: it consists of uterovaginal duplication with obstructed hemivagina and unilateral renal agenesis. Its incidence varies between 0.1% and 3.8%. 1 Alterations in development of both Mullerian and Woll-fian ducts lead to this anomaly: uterovaginal duplication with obstructed hemivagina is the result of lateral nonfusion of the Mullerian ducts with asymmetric obstruction, while renal agenesis results from a defect in the development of the Wollfian duct. 2 Multiple environmental and genetic factors may be involved in its development. The age of presentation of HWW syndrome can vary according to the degree of vaginal obstruction. Usually, in cases with complete obstruction, patients present few months after menarche with recurrent pelvic pain due to hematocolpos during menses. However, the septum can be initially incomplete or gets perfo-rated if very thin, leading to incomplete obstruction. The presence of fen-estration as such can delay the diagnosis because fully distended hematocolpos and its related","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2023-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Late diagnosis of Herlyn-Werner-Wunderlich syndrome: Is there a need for an early screening?\",\"authors\":\"Wissam Arab, Yara Abdelkhalek, Antoine Zoghbi, David Atallah\",\"doi\":\"10.1111/cga.12542\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly related to an abnormal development of the Mullerian ducts during organogenesis: it consists of uterovaginal duplication with obstructed hemivagina and unilateral renal agenesis. Its incidence varies between 0.1% and 3.8%. 1 Alterations in development of both Mullerian and Woll-fian ducts lead to this anomaly: uterovaginal duplication with obstructed hemivagina is the result of lateral nonfusion of the Mullerian ducts with asymmetric obstruction, while renal agenesis results from a defect in the development of the Wollfian duct. 2 Multiple environmental and genetic factors may be involved in its development. The age of presentation of HWW syndrome can vary according to the degree of vaginal obstruction. Usually, in cases with complete obstruction, patients present few months after menarche with recurrent pelvic pain due to hematocolpos during menses. However, the septum can be initially incomplete or gets perfo-rated if very thin, leading to incomplete obstruction. The presence of fen-estration as such can delay the diagnosis because fully distended hematocolpos and its related\",\"PeriodicalId\":10626,\"journal\":{\"name\":\"Congenital Anomalies\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2023-09-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Congenital Anomalies\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/cga.12542\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Congenital Anomalies","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/cga.12542","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
Late diagnosis of Herlyn-Werner-Wunderlich syndrome: Is there a need for an early screening?
Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly related to an abnormal development of the Mullerian ducts during organogenesis: it consists of uterovaginal duplication with obstructed hemivagina and unilateral renal agenesis. Its incidence varies between 0.1% and 3.8%. 1 Alterations in development of both Mullerian and Woll-fian ducts lead to this anomaly: uterovaginal duplication with obstructed hemivagina is the result of lateral nonfusion of the Mullerian ducts with asymmetric obstruction, while renal agenesis results from a defect in the development of the Wollfian duct. 2 Multiple environmental and genetic factors may be involved in its development. The age of presentation of HWW syndrome can vary according to the degree of vaginal obstruction. Usually, in cases with complete obstruction, patients present few months after menarche with recurrent pelvic pain due to hematocolpos during menses. However, the septum can be initially incomplete or gets perfo-rated if very thin, leading to incomplete obstruction. The presence of fen-estration as such can delay the diagnosis because fully distended hematocolpos and its related
期刊介绍:
Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.