Vaginal Agenesis

What is Vaginal Agenesis?

Vaginal agenesis is a congenital condition where the vagina is incompletely developed or absent. This condition is rare, affecting approximately 1 in 5,000 newborn girls. It often accompanies other anomalies such as a small or absent uterus and issues with the kidneys (missing, dislocated, or joined). Despite these complications, most individuals with vaginal agenesis have typical ovaries. When vaginal agenesis is combined with an absent uterus, it is referred to as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. The ability to have children depends on the individual's specific internal anatomy.

What Causes Vaginal Agenesis? 

The exact cause of vaginal agenesis is not entirely understood. Genetic differences have been suggested as a cause for MRKH syndrome, but a definitive genetic cause has not been identified for all individuals.

How is Vaginal Agenesis Diagnosed? 

Vaginal agenesis is present at birth but may not be immediately obvious as the external genitalia typically appear normal. The condition is often diagnosed during puberty when a girl does not begin her menstrual periods as expected (a condition known as amenorrhea). Diagnostic methods include:

  • Medical History and Physical Examination: A detailed medical history and thorough physical examination.
  • Imaging Tests: Ultrasound or MRI scans to visualize the reproductive organs.
  • Genetic Testing: To identify any underlying genetic causes, though not always definitive.

How is Vaginal Agenesis Treated? 

Treatment focuses on creating a functional vaginal canal and managing associated reproductive issues. Options include:

  • Psychological Support: Emotional and psychological support is crucial for individuals dealing with the diagnosis and treatment of vaginal agenesis.
  • Vaginal Dilations: Non-surgical creation of a vaginal canal using gradual dilation.
  • Surgical Vagina Creation: Surgical creation of a vaginal canal, if desired. Many patients receive surgical care at specialized centers like the Collaborative Advanced Reconstructive Evaluation (CARE) Clinic.

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