What is vaginal agenesis?
During pregnancy, a baby's reproductive system may not finish developing in the mother's uterus. She may be born without a vagina and have other absent reproductive organs. This condition is called vaginal agenesis. Some facts about the condition:
- Vaginal agenesis affects 1 out of 5,000 to 7,000 female infants.
- Sometimes vaginal agenesis is recognized at birth. Most times, the condition isn't diagnosed until puberty, when the teen notices she hasn't started her period and seeks medical advice.
- 90 percent of patients are born with Mayer-von Rokitansky-Küster-Hauser's Syndrome (MRKH) and have a collection of symptoms which may include an absent uterus and cervix, kidney, hearing loss, and a possible spinal abnormality such as curvature of the spine. All females will either have an absent vagina or an incomplete vaginal canal.
- Young women with vaginal agenesis have normal ovaries and normal external genitalia and thus go through puberty and develop breasts, under arm and pubic hair, except they will not have a periods.
- 30 percent of patients with vaginal agenesis have kidney abnormalities. Usually, one kidney is absent or one or both kidneys are dislocated. The kidneys could also be fused together in a horseshoe shape.
- About 12 percent of girls with vaginal agenesis have skeletal abnormalities. Two-thirds of those patients experience minor problems with the spine, ribs or limbs.
It's perfectly normal for your daughter to feel anxious and or sad when she hears this diagnosis and grasps that she will not be able to become pregnant and carry a child. Gender identity and body image issues are also expected, but it's important for you and your daughter to know that she is a genetic female with the ability to experience normal sexual feelings. After successful treatment, no future sexual partner will be able to tell that she was born with vaginal agenesis.
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 (amenorrhea)
- 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.
About 7 to 8 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.
Vaginal Agenesis | Diagnosis & Treatments
How is vaginal agenesis diagnosed?
The first step in treating your child is making an accurate and complete diagnosis.
Testing is especially important for vaginal agenesis, in order to understand the extent of the reproductive anomalies. Young women typically present for testing sometime during the middle teen years when they experience primary amenorrhea, or lack of a menstrual period, after having normal breast development.
- external genital exam
- modified internal exam
Testing for Mayer-von Rokitansky–Küster-Hauser’s (MRKH) syndrome
- Sometimes a karyotype is performed for MRKH syndrome. Karyotyping is a test that allows doctors to examine chromosomes in a sample of cells and pinpoint specific genetic causes of a disease. All girls diagnosed with MRKH have the karyotype 46XX, which is a normal karyotype for all women.
What are the treatment options for vaginal agenesis?
Unlike most medical conditions in which you seek treatment immediately after diagnosis, with a vaginal agenesis your doctor will typically not intervene immediately unless there is pain, or a specific medical reason to proceed. It's entirely up to your daughter to decide when and if she is ready for treatment. She needs time to understand her condition and grieve the emotional disappointment of not having a complete reproductive system.
She may opt to wait or do nothing. If she plans to have sexual intercourse now or in the future, she may decide to create a vagina. Many girls with vaginal agenesis decide to create a vagina during their teenage years.
Dilator treatment is the standard, most efficient treatment for MRKH. It's recommended by the American College of Obstetricians and Gynecologists (ACOG) as the first choice of treatment to create a vagina for girls with MRKH.
The main advantage of vaginal dilation is that it doesn't require surgery. The main disadvantage is that it requires using a dilator once to twice a day until the vaginal canal is stretched to a normal length.
A vaginal dilator is hard, smooth plastic and shaped similar to a tampon. When pressure is applied by hand over time it stretches the vagina. Ideally, it should be used 15 to 20 minutes twice each day until the vagina is complete which can be anytime between two months to 18 months. The size of the dilator will be increased as time goes on. For more information, read the following guide: Instructions on the Use of Vaginal Dilators.
It should be noted that a young woman with vaginal agenesis can have normal orgasmic function as the clitoris and the external genitalia are formed normally. The vagina may have natural amount of lubrication, or a water-based lubricant is recommended during intercourse if there is a lack of natural lubrication. The success rate of vaginal dilatation with the utilization of dilators depends on how frequently and consistently the dilators are used as well as the amount of pressure that is applied.
How we care for vaginal agenesis
The team at the Boston Children's Hospital Division of Gynecology and the Center for Congenital Anomalies of the Reproductive Tract are committed to working with females up to age 22 who are born with an anomaly of a reproductive organ, including vaginal agenesis. The multidisciplinary team of gynecologists, radiologists, nurse specialists, and social workers here have the expertise to treat your daughter. We are is equipped to provide a full range of services including testing, treatment, counseling, and follow-up, not only caring for the physical effects, but also providing much needed understanding and emotional support for the teen and her family.
The Center for Young Women’s Health (CYWH) brings together the Division of Gynecology and the Division of Adolescent and Young Adult Medicine, offering programs, resources, and services to empower young women around the world to take an active role in their own health care. What makes the center unique is a team approach, as doctors, nurses, and social workers work together to provide accurate diagnoses and exceptional care and treatment options, if your daughter desires treatment. You can find the most up-to-date information about issues including gynecology, sexuality and health and development, fitness and nutrition, and emotional health.