Late diagnosis of Herlyn-Werner-Wunderlich syndrome: Is there a need for an early screening?

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