Vaginal agenesis occurs when a girl is born without a vagina.
In some cases, a girl may be missing the lower part of her vagina but the upper part of her vagina is normal. This condition is called agenesis of the lower vagina.
Patients can be seen by Texas Children's experts in Pediatric and Adolescent Gynecology.
Causes & Risk Factors
Vaginal 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 fetal development is not yet known.
Vaginal agenesis may be one symptom of a broader condition involving several abnormalities of the reproductive system. These conditions include:
- Mayer-von Rokitansky-Küster-Hauser's Syndrome (MRKH) – a condition that causes the vagina and uterus to be absent or underdeveloped, as well as other abnormalities
- MURCS association – a condition that includes MRKH syndrome abnormalities as well as several others, including spine abnormalities, short stature and kidney defects
- Complete androgen sensitivity syndrome (AIS) – a condition in which patients have a normal female appearance, but lack a vagina, cervix, uterus, fallopian tubes and ovaries
- Mixed Gonadal Dysgenesis
Symptoms & Types
Symptoms may include:
- A small pouch or dimple where the vaginal opening should be
- Failure to start having periods at puberty (primary amenorrhea)
Diagnosis & Tests
Because the outward genitalia appear normal, the condition is often not diagnosed until puberty, when a girl fails to begin having periods and visits her doctor.
Diagnosis includes a thorough medical history and physical exam, including a pelvic exam.
Additional testing may include:
- Blood tests – to test forMayer-von Rokitansky-Küster-Hauser’s (MRKH) syndrome
- An ultrasound – to create images of the internal reproductive organs and look for abnormalities
- An MRI (magnetic resonance imaging) – to obtain more detailed imaging
Treatment & Care
Treatment depends on the individual patient and what symptoms are present.
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. This is done 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)