# Genetic Predisposition in Müllerian Malformations: A Case Report

## TL;DR

A woman with a family history of Müllerian malformations had a vaginal septum, highlighting the importance of early evaluation in families with such conditions.

## Contribution

This case report emphasizes the hereditary aspect of Müllerian malformations and advocates for early evaluation in affected families.

## Key findings

- A 20-year-old woman presented with a longitudinal vaginal septum and a strong family history of Müllerian malformations.
- MRI confirmed a 4 cm septum in the lower vagina with normal uterine and cervical anatomy.
- Surgical resection was successful, and the patient recovered well with standard postoperative care.

## Abstract

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.