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Uterine Agenesis MRKH-MURCS

Conditions

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Uterine agenesis is a condition in which a girl is born without a uterus.

Patients can be seen by Texas Children's experts in Pediatric and Adolescent Gynecology.

Causes & Risk Factors

Uterine agenesis is a congenital disorder, meaning it is present at birth. It occurs when the baby’s reproductive system fails to develop fully in the womb. Other reproductive organs may also be missing or smaller than usual.

The cause of this abnormal development is not yet known.

Uterine agenesis is typically one symptom of a broader condition involving several abnormalities of the reproductive system. These conditions include:

  • Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, a disorder in which the uterus and vagina are absent or underdeveloped, in addition to other abnormalities
  • MURCS association – includes MRKH symptoms, spine abnormalities, short stature, kidney defects, and other symptoms
  • Androgen sensitivity syndrome (AIS) – a condition in which patients have a normal female appearance outwardly, but internally they lack the female reproductive organs

Symptoms & Types

Symptoms may include:

  • Failure to start having periods at puberty (primary amenorrhea)
  • Abdominal pain

Diagnosis & Tests

Because the outward genitals appear normal, the condition is often not diagnosed until puberty, when a girl fails to begin having periods (amenorrhea) and visits her doctor.

Diagnosis starts with a thorough medical history and physical exam, including a pelvic exam.

Additional testing may include:

  • Blood tests – to test for Mayer-von Rokitansky–Küster-Hauser’s (MRKH) syndrome          
  • An ultrasound – to create images of the internal reproductive organs
  • An MRI (magnetic resonance imaging) – for more detailed images

Treatment & Care

Treatment depends on the individual patient and their symptoms. If the vagina is also missing, many girls choose to have a vagina created through:

  • Vaginal dilators – A small round tube similar to a tampon, called a dilator, is pressed against the area where the vagina should be on a daily basis to stretch the vaginal canal to a normal length. Progressively larger dilators are used as the area stretches. 
  • Reconstructive surgery to create a vagina (called a vaginoplasty)