Vaginal Agenesis

What is vaginal agenesis?

Vaginal agenesis is a congenital anomaly (birth defect). It happens when the vagina of a fetus doesn't develop properly in your uterus. They may be missing all or part of their vagina. Although the condition is present at birth, it might go undiagnosed until later in life. The outer sex organs often appear normal, so women and people assigned female at birth (AFAB) don’t learn that they have the condition until their teenage years. It becomes apparent when they don’t start their monthly period (menstruation).

Vaginal agenesis can occur along with other abnormalities of the reproductive system. Some people may not have a fully developed uterus (the organ in which a fetus grows) or fallopian tubes (which carry eggs to the uterus). Problems with the kidneys or the spine can also occur.

Healthcare providers treat vaginal agenesis with medical devices that gradually dilate the vaginal canal. Sometimes, you need surgery to create a vaginal opening. Depending on which reproductive organs the condition affects, it may not be possible to carry a child. But, with treatment, many people with this condition lead healthy lives and enjoy a normal sex life.

How common is vaginal agenesis?

This condition affects about 1 of every 5,000 people assigned female at birth. About a third of people with vaginal agenesis also have problems with their kidneys. Around 12% of the time, people with this condition also have problems affecting their spine, ribs or bones in the arms and legs.

What causes vaginal agenesis?

Healthcare providers don’t know what causes this condition. It happens while a fetus is growing inside your uterus. At some point in the first 20 weeks of fetal development, the female reproductive system doesn’t develop as it should. There may be abnormalities in the vagina, uterus, fallopian tubes or cervix (the lower part of the uterus).

These abnormalities might result from environmental factors, such as exposure to a toxic substance during pregnancy. Or, they might result from genetics. It’s possible to inherit some of the conditions associated with vaginal agenesis.

Vaginal agenesis can be a sign of (or occur along with) several conditions, including various disorders of sex differentiation (DSD). These include:

• Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a rare disorder that causes abnormalities in the reproductive organs. MRKH syndrome is the most common disorder associated with vaginal agenesis. The syndrome causes the vagina and uterus to develop abnormally or not develop at all. Depending on the type and severity of the syndrome, there may also be other abnormalities in the cervix, spine and limbs. Hearing problems and heart and kidney abnormalities can also occur.
• Androgen insensitivity syndrome (AIS), an inherited condition in which a baby does not develop a uterus, cervix, fallopian tubes and part of the vagina. In some cases, the vagina may not be present at all.

What are the symptoms of vaginal agenesis?

Signs of this condition include:

• Amenorrhea, no monthly period by age 15.
• Cryptomenorrhea, when menstrual blood pools inside your body because there isn’t a way for it to exit your body. This buildup can cause cramping and abdominal pain.
• Dimple or divot where the vaginal opening should be.
• Pain during sex, which can happen when the vagina is too short.

How is vaginal agenesis diagnosed?

Sometimes, providers diagnose this condition during infancy or childhood. But most of the time, providers diagnose the condition during your teenage years. Many people with the condition discover that they have it when they see their provider because they haven’t started having a monthly period by age 15.

To diagnose vaginal agenesis, your provider (or your child’s provider) will do a:

• Physical exam of the vaginal and anal area.
• Ultrasound, to see images of the vagina and pelvis.
• MRI, an imaging study that shows detailed images of the vagina and reproductive organs.

Your provider may also recommend a blood test to look for chromosomal abnormalities. A DNA blood test can confirm a diagnosis of a genetic disorder, like MRKH syndrome, which is sometimes associated with vaginal agenesis.

Can vaginal agenesis be fixed?

Treatments are available to help with this condition. Talk to your provider or your child’s pediatrician about the right time to start treatment. Some people start treatment during childhood. Others wait until puberty or later in life when they start having sex. This choice is very personal.

Treatment for vaginal agenesis includes:

Self-dilation of the vagina

If you have a vaginal opening or a dimple where the opening should be, your provider may recommend using a dilator to create a vagina. You use a small tube to make an opening and gradually increase the size every day. This usually takes about 20 minutes a day. The dilation may feel uncomfortable, but it shouldn’t hurt. You may want to increase the size of the dilator after a bath when your skin is soft and more likely to stretch.

Surgery

Your provider may recommend a procedure called a vaginoplasty to construct a vaginal canal. The technique your provider uses will depend on your anatomy and several other factors. Providers can create a vagina by placing a traction device on the absent vagina, using a skin graft or the skin from the inside of your cheek or a portion of your bowel (intestine).

After the surgery, your provider places an insert in the vagina to maintain its shape. Talk to your provider about when you can remove the insert.

How long does it take to recover from this treatment?

If you have surgery, ask your provider what you can expect during recovery. You may need to stay off your feet for about a week. Your provider may recommend leaving a dilator inside your vagina for a few months. You can take the dilator out to have sex, go to the bathroom or take a shower.

Can I have sex with vaginal agenesis?

Ask your provider when you can safely have sex after treatment for vaginal agenesis. Usually, you can start having sex about a month after surgery, but everyone’s recovery time is different. You will need artificial lubrication to make sex comfortable at first.

After treatment, many people have a satisfying sex life. Your partner may not even notice that you had vaginal agenesis or received treatment for the condition.

Can I have children after treatment for vaginal agenesis?

Ask your provider if you can carry a child after treatment. If your uterus, fallopian tubes and cervix developed normally, you may still be able to have children.

If you don’t have a uterus (or if it’s too small), you may not be able to carry a child (uterine factor infertility). But you may be able to have a child with a surrogate using your own eggs. Your provider may refer you to a fertility specialist to discuss your options.

How can I prevent vaginal agenesis?

Vaginal agenesis is a congenital abnormality (birth defect). That means it’s present at birth and happens while a baby is growing in your uterus, so there isn’t a way to prevent it.

How do I know if I’m at risk of having a baby with vaginal agenesis?

If you have a family history of disorders of sex differentiation, talk to your provider before starting a family. You may choose to talk to a genetic counselor before you get pregnant to evaluate your risk of passing an inherited condition to your child.

What can I expect if I have vaginal agenesis?

Your outlook depends on many factors. These include the treatment you received and which of your reproductive organs the condition affected. With treatment, many people have a satisfying sex life.

Some people develop vaginal stenosis (decrease in the size of the vaginal canal) after a vaginoplasty. Sometimes, you may need to continue to use a dilator or have another surgery.

When should I see my healthcare provider?

If you or your child hasn’t started menstruating by age 15, call your provider. It’s important to get a full evaluation and physical exam. See your provider right away if you also have abdominal pain or cramping. If you notice any abnormalities in the vaginal area, see your provider for an exam.

What else should I ask my doctor about vaginal agenesis?

To understand this condition, you may want to ask:

• What’s the most appropriate treatment for me?
• Can you connect me with a support group for people with this condition?
• When can I get back to my usual activities after treatment?
• When can I have sex after treatment?
• What are my risks of having a baby with this condition if vaginal agenesis runs in my family?

A note from Cleveland Clinic

If you or your child has signs of this condition, be open and honest with your provider. Call your provider if you or your child hasn’t started menstruating by age 15 or if you notice anything unusual about the vaginal area. Vaginal agenesis can cause problems with menstruation, reproductive health and sexual function. But treatments can help. If you would like to have a baby after treatment, talk to your provider about your options. Many people experience a satisfying sex life after treatment.