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Related Experiment Video

Updated: Jul 13, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Genetic Predisposition in Müllerian Malformations: A Case Report.

Alejandro Rendón-Molina¹, Andrea Olguín-Ortega¹

¹Department of Gynecology, National Institute of Perinatology, Mexico City, MEX.

|July 18, 2025

Summary

Müllerian malformations (MM), congenital anomalies of the female reproductive tract, can run in families. Early recognition of these hereditary patterns is crucial for better reproductive health outcomes.

Keywords:

bicornuate uterus genetic predisposition longitudinal vaginal septum müllerian malformations pathology regarding infertility

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Published on: October 20, 2019

Area of Science:

Reproductive Medicine
Medical Genetics
Gynecology

Background:

Müllerian malformations (MM) are congenital anomalies of the female reproductive tract.
These anomalies may have a hereditary component, suggesting a genetic predisposition.
Understanding familial patterns is key to diagnosing and managing MM.

Observation:

A 20-year-old woman presented with tampon and menstrual cup insertion difficulties.
She had a family history of MM: mother and grandmother with longitudinal vaginal septa, aunt with a bicornuate uterus.
Physical examination revealed a 3 cm longitudinal vaginal septum.

Findings:

Magnetic resonance imaging (MRI) confirmed a 4 cm vaginal septum in the lower two-thirds of the vagina.
No uterine or cervical abnormalities were detected in the patient.
Surgical resection of the vaginal septum was performed successfully.

Implications:

This case highlights the importance of considering family history in MM diagnosis.
Early evaluation and genetic counseling can improve reproductive outcomes.
Prompt surgical intervention can resolve associated complications effectively.