Vaginal agenesis (a-JEN-uh-sis) is a rare disorder that occurs when the vagina doesn't develop, and the womb (uterus) may only develop partially or not at all. This condition is present before birth, and may also be associated with kidney, heart or skeletal abnormalities.

The condition is also known as mullerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Both surgical and nonsurgical treatments are available.

After treatment, you may be able to have a normal sex life. Women with a missing or partially missing uterus can't get pregnant. If you have healthy ovaries, however, it may be possible to have a baby through in vitro fertilization using a gestational carrier.

Signs and symptoms of vaginal agenesis often go unnoticed until girls reach their teens, but don't menstruate (amenorrhea). Some women have monthly cramping or abdominal pain.

When to see a doctor

If you haven't had a menstrual period by age 15, see your doctor.

It's not clear what causes vaginal agenesis. Scientists think that at some point during the first 20 weeks of pregnancy, tubes called the mullerian ducts don't develop properly. Normally, one of these ducts develops into the uterus and vagina, and the other grows into fallopian tubes.

Prior to treatment, vaginal agenesis may impact your sexual relationships.

After treatment, you should have a normal, satisfying sex life. However, if your uterus is also affected, you won't be able to become pregnant on your own.

Depending on your age, your pediatrician or gynecologist will diagnose your condition based on your medical history and a physical exam. Vaginal agenesis diagnosis can happen at different times in your life, for instance:

• As a baby, if your parents or doctor discover that you have no vaginal or anal opening
• As a young girl, during an examination for a suspected kidney problem
• During puberty, when your menstrual periods don't start even after you've developed breasts and have underarm and pubic hair

To determine your treatment options, your doctor may recommend other testing, including:

• Blood tests. Blood tests to assess your chromosomes and measure your hormone levels can confirm your diagnosis and rule out other conditions.
• Ultrasound. Ultrasound images show your doctor whether you have a uterus and ovaries and where your kidneys are located.
• Magnetic resonance imaging (MRI). An MRI gives your doctor a detailed picture of your reproductive tract and kidneys.

Treatment for vaginal agenesis often occurs in the late teens or early 20s, but you may wait until you're older. If your parents learned about your condition when you were an infant or young girl, you may start treatment earlier.

Depending on your individual condition, your doctor may recommend one of the following courses of treatment.

Self-dilation

As a first step, your doctor will probably recommend self-dilation. Self-dilation may allow you to create a vagina without surgery. You press a small, round rod (dilator) against your skin or inside your existing vagina for 30 minutes to two hours a day.

Your skin stretches more easily after a warm bath, so that may be the best time to do it. As the weeks go by, you switch to larger dilators. It may take a few months to get the result you want.

Vaginal dilation through intercourse

This method hasn't yet been well-studied, but an option for self-dilation is vaginal dilation through frequent intercourse for women who have willing partners.

Artificial lubrication is often needed. Bleeding and pain are possible side effects, especially in the beginning. If you'd like to give this method a try, talk to your doctor about the best way to proceed.

Surgery

If self-dilation doesn't work, surgery to create a functional vagina (vaginoplasty) may be an option. Doctors usually delay surgical treatments until you have the maturity to handle follow-up dilation.

Options for vaginoplasty surgery include:

• Using a skin graft (McIndoe procedure). In the McIndoe procedure, your surgeon uses skin from your buttocks to create a vagina. Your surgeon makes an incision in the area where you'll have your vagina, inserts the skin graft to create the structure and places a mold in the newly formed canal. The mold remains in place for one week.

  After that, you use a vaginal dilator, similar to a firm tampon, which you remove when you use the bathroom or have sexual intercourse. After about three months, you'll use the dilator only at night. Sexual intercourse with artificial lubrication and occasional dilation helps you maintain a functional vagina.

• Inserting a medical device (Vecchietti procedure). In the Vecchietti procedure, your surgeon places an olive-shaped device at your vaginal opening. Using a thin, lighted viewing instrument (laparoscope) as a guide, your surgeon connects the olive-shaped device to a separate traction device on your lower abdomen.

  You tighten the traction device every day, gradually pulling the olive-shaped device inward to create a vagina over about a week. After your doctor removes the device, you'll need further manual dilation. Sexual intercourse will likely require artificial lubrication.

• Using a portion of your colon (bowel vaginoplasty). In a bowel vaginoplasty, your surgeon diverts a portion of your colon to an opening in your genital area, creating a new vagina. Your surgeon then reconnects your remaining colon. You won't have to use a vaginal dilator every day after this surgery, and you're less likely to need artificial lubrication for sexual intercourse.

Learning you have vaginal agenesis can be difficult. That's why your doctor will recommend that a psychologist or social worker be part of your treatment team. These professionals can answer your questions and help you deal with some of the more difficult aspects of having vaginal agenesis, such as possible infertility.

Some women prefer to connect with a support group of women who are going through the same thing. You may be able to find a support group online, or you can ask your doctor if he or she knows of a group.

You'll probably start by discussing your symptoms with your primary care provider, or your child's pediatrician. He or she will likely refer you to a doctor who specializes in women's health (gynecologist).

What you can do

To prepare for your appointment:

• Make a list of any signs and symptoms you have, including those that may seem unrelated to the reason for your appointment.
• Make a list of all medications that you take, include prescription and nonprescription drugs, vitamins and supplements and note the doses.
• Ask a family member or friend to come with you, if you're comfortable with that. Sometimes it can be difficult to remember all the information provided during an appointment. Someone who goes with you may remember something that you missed or forgot.
• Prepare questions to ask your doctor, so that you don't forget to cover anything that's important to you.

Some basic questions to ask include:

• What's the likely cause of my condition?
• Do I need any tests?
• Is my condition temporary or long lasting?
• What treatments are available and what do you recommend?
• Are there any restrictions that I need to follow?
• Should I see a specialist?
• Are there brochures or other printed materials that I can have? What websites do you recommend?

What to expect from your doctor

Questions your doctor may ask include:

• What vaginal symptoms are you experiencing?
• How long have you experienced these symptoms?
• Have you had a menstrual period?
• How much distress do your symptoms cause you?
• Are you sexually active?
• Does the condition limit your sexual activity?