Vaginal Agenesis | Symptoms & Causes

What are the symptoms of vaginal agenesis?

The symptoms of vaginal agenesis include:

  • small pouch or dimple where vaginal opening should be
  • lack of menstrual cycle
  • lower abdominal pain if a uterus is present without a connection to a vaginal canal.

How will vaginal agenesis impact my daughter's sexual life or fertility?

Depending on the reproductive organs affected, your daughter's sexual life and fertility could be impacted in a variety of ways. If she was born with a normal-sized uterus, she may be able to become pregnant and deliver a baby.

There are options for women born without a uterus or with a tiny uterus. The ovaries that make eggs function normally. With the help of assisted reproductive technology, your daughter’s own egg(s) could be fertilized with her partner’s sperm then placed in a surrogate carrier, when the time is right.

Much of female sexual pleasure comes from stimulation of the clitoris. Since patients with vaginal agenesis have normal external genitalia, she should be able to experience normal orgasmic function.

What causes vaginal agenesis?

The exact cause of this genetic abnormality is unknown, but many different congenital conditions are known to lead to vaginal agenesis.

Mayer-von Rokitansky-Küster-Hauser's Syndrome (MRKH) leads to 90 percent of vaginal agenesis cases. There are several different variations of this congenital disorder. Some patients may have no vagina and no uterus. Others may have a midline uterus, but no vagina and no cervix. Sometimes MRKH is associated with kidney, skeletal and hearing problems.  Most commonly, a patient with MRKH will not have a uterus.

It's important to understand that if your daughter has MRKH, she has a karyotype of 46 XX, meaning she is genetically female.

Approximately seven to eight percent of patients with vaginal agenesis have a less common condition called androgen insensitivity syndrome (AIS). These patients have a normal female appearance, but lack a vagina, cervix, uterus, fallopian tubes and ovaries.

There are no known ethnic groups that are especially at risk for vaginal agenesis.

Is vaginal agenesis inheritable?

There is little evidence that agenesis of the lower vagina runs in families. There are no known risk factors for vaginal agenesis.