Vaginal and Mullerian Agenesis
Norton Children’s Gynecology, affiliated with the UofL School of Medicine, is the only practice in Kentucky, Louisville and Southern Indiana dedicated to pediatric gynecological care. Our board-certified physicians are trained to treat vaginal agenesis (often known as Müllerian agenesis) with the sensitivity that children, teens and parents need.
Vaginal agenesis is a rare disorder that occurs when the vagina doesn’t develop and the uterus may only develop partially or not at all. The condition is present before birth.
There are no known risk factors for vaginal agenesis. It may be one symptom of a broader condition involving the reproductive system. These conditions include:
Mayer-von Rokitansky-Küster-Hauser syndrome (MRKH): Most girls with vaginal agenesis have MRKH (also known as Müllerian agenesis). With MRKH, a developing baby’s reproductive system starts to grow but doesn’t fully form.
There are several variations of MRKH. Most commonly, a patient with MRKH will not have a uterus. The cervix and vagina might also be absent. MRKH also is associated with kidney, skeletal and hearing problems.
Girls with MRKH have “normal external genitalia,” which means there is no noticeable effect outside of the vagina.
Androgen insensitivity syndrome (AIS): A small percentage of patients with vaginal agenesis have this rare condition. Kids with AIS have a normal female appearance but may lack certain female reproductive organs.
Signs and Symptoms
Girls with vaginal agenesis typically have normal external genitalia and ovaries. As a result, they go through puberty and develop breasts and pubic hair, but they will not have periods. There may be a small pouch or dimple where a vaginal opening should be.
Sometimes vaginal agenesis is recognized at birth. Most times it doesn’t present itself until puberty, when a teen notices she hasn’t started her period.
Testing may include a pelvic exam, blood test, ultrasound and MRI.
Treatment options for vaginal agenesis may include:
- Vaginal dilation: A small round tube (similar to a tampon) may be used to stretch the vaginal canal. As the weeks go by, the patient switches to larger dilators until a normal vaginal canal is created.
- Reconstructive surgery: If dilation doesn’t work, surgery to create a functional vagina (vaginoplasty) may be an option.
Our team understands this is a sensitive diagnosis. We provide a full range of services to not only treat the physical condition, but also provide emotional support.
If the child was born with an incomplete vagina but has a normal size uterus, she likely will be able to become pregnant.
There are reproductive options for girls born without a uterus or an especially small uterus. When the time is right and with the help of assisted reproductive technology, the patient’s own eggs could be fertilized then placed in a surrogate carrier.
A normal sex life is possible for women born with vaginal agenesis because typically it does not affect external genitalia.
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