Genetic Predisposition in Müllerian Malformations: A Case Report

Müllerian malformations (MM) are congenital anomalies of the female reproductive tract that may have a hereditary component. We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a longitudinal vaginal septum and aunt with a bicornuate uterus) who presented with difficulty inserting tampons and menstrual cups. Physical examination revealed a 3 cm longitudinal vaginal septum, which was confirmed by magnetic resonance imaging (MRI) as a 4 cm septum in the lower two-thirds of the vagina, with no abnormalities in the uterus or cervix. Surgical resection was performed without complications, and the patient recovered uneventfully with standard postoperative care. This case points out the relevance of recognizing familial patterns in MM and suggests that early evaluation and counseling may improve reproductive outcomes and minimize associated complications.