Müllerian anomaly in a woman with Hirschsprung's disease

Abstract

Müllerian anomalies are usually isolated or found in association with abnormalities of the renal tract. Rarely, they are encountered with coexisting Ggastrointestinal anomalies. Similarly, Hirschsprung's disease may coexist with additional somatic abnormalities, yet only a single case report has reported a müllerian anomaly coexisting with Hirschsprung's. A 35-year-old woman with long-standing dysmenorrhoea and infertility and history of Hirschsprung's disease and some components of VATER syndrome (vertebral anomalies, anal atresia, tracheoesophageal fistula, renal anomalies) underwent operative laparoscopic exploration for pelvic pain and was found to have an incidental finding of a unilateral segmentally hypoplastic uterine horn (variation of an ASRM (American Society for Reproductive Medicine) type 2C müllerian anomaly). The genetics of müllerian anomalies and Hirschsprung's disease have been extensively studied with certain loci and candidate genes theorised as being causative. An established familial relationship and heritability exists with both syndromes; however, no genetic foci have been found to connect müllerian abnormalities and Hirschsprung's disease.