Vaginal agenesis

Overview

Vaginal agenesis (a-JEN-uh-sis) is a rare disorder in which 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 or skeletal problems.

The condition is also known as mullerian agenesis, mullerian aplasia or Mayer-Rokitansky-Kuster-Hauser syndrome.

Vaginal agenesis is often identified at puberty when a female does not begin menstruating. Use of a vaginal dilator, a tubelike device that can stretch the vagina when used over a period of time, is often successful in creating a vagina. In some cases, surgery may be needed. Treatment makes it possible to have vaginal intercourse.

Symptoms

Vaginal agenesis often goes unnoticed until females reach their teens, but don't menstruate (amenorrhea). Other signs of puberty usually follow typical female development.

Vaginal agenesis may have these features:

• The genitals look like a typical female.
• The vagina may be shortened without a cervix at the end, or absent and marked only by a slight indentation where a vaginal opening would typically be located.
• There may be no uterus or one that's only partially developed. If there's tissue lining the uterus (endometrium), monthly cramping or chronic abdominal pain may occur.
• The ovaries typically are fully developed and functional, but they may be in an unusual location in the abdomen. Sometimes the pair of tubes that eggs travel through to get from the ovaries to the uterus (fallopian tubes) are absent or do not develop typically.

Vaginal agenesis may also be associated with other issues, such as:

• Problems with development of the kidneys and urinary tract
• Developmental changes in the bones of the spine, ribs and wrists
• Hearing problems
• Other congenital conditions that also involve the heart, gastrointestinal tract and limb growth

When to see a doctor

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

Causes

It's not clear what causes vaginal agenesis, but at some point during the first 20 weeks of pregnancy, tubes called the mullerian ducts don't develop properly.

Typically, the lower portion of these ducts develops into the uterus and vagina, and the upper portion becomes the fallopian tubes. The underdevelopment of the mullerian ducts results in an absent or partially closed vagina, absent or partial uterus, or both.

Complications

Vaginal agenesis may impact your sexual relationships, but after treatment, your vagina will typically function well for sexual activity.

Females with a missing or partially developed uterus can't get pregnant. If you have healthy ovaries, however, it may be possible to have a baby through in vitro fertilization. The embryo can be implanted in the uterus of another person to carry the pregnancy (gestational carrier). Discuss fertility options with your health care provider.

Diagnosis

Your pediatrician or gynecologist will diagnose vaginal agenesis based on your medical history and a physical exam.

Vaginal agenesis is typically diagnosed during puberty when your menstrual periods don't start, even after you've developed breasts and have underarm and pubic hair. Sometimes vaginal agenesis can be diagnosed at an earlier age during an evaluation for other problems or when parents or a doctor notice a baby has no vaginal opening.

Your health care provider may recommend 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 health care provider whether you have a uterus and ovaries and identify if there are problems with your kidneys.
• Magnetic resonance imaging (MRI). An MRI gives your health care provider a detailed picture of your reproductive tract and kidneys.
• Other testing. Your health care provider may also order other tests to examine your hearing, heart and skeleton.

Treatment

Treatment for vaginal agenesis often occurs in the late teens or early 20s, but you may wait until you're older and you feel motivated and ready to participate in treatment.

You and your health care provider can discuss treatment options. Depending on your individual condition, options may involve no treatment or creating a vagina by self-dilation or surgery.

Self-dilation

Self-dilation is typically recommended as the first option. Self-dilation may allow you to create a vagina without surgery. The goal is to lengthen the vagina to a size comfortable for sexual intercourse.

During self-dilation, you press a small, round rod (dilator) — similar to a firm tampon — against your skin at your vaginal opening or inside your existing vagina for 10 to 30 minutes 1 to 3 times a day. As the weeks go by, you switch to larger dilators. It may take a few months to get the result you want.

Discuss the process of self-dilation with your health care provider so that you know what to do and talk about dilator options to find what works best for you. Using self-dilation at intervals recommended by your health care provider or having frequent sexual intercourse is needed over time to maintain the length of your vagina.

Some patients report problems with urinating and with vaginal bleeding and pain, especially in the beginning. Artificial lubrication and trying a different type of dilator may be helpful. Your skin stretches more easily after a warm bath so that may be a good time for dilation.

Vaginal dilation through frequent intercourse is an option for self-dilation for women who have willing partners. If you'd like to give this method a try, talk to your health care provider about the best way to proceed.

Surgery

If self-dilation doesn't work, surgery to create a functional vagina (vaginoplasty) may be an option. Types of vaginoplasty surgery include:

• Using a tissue graft. Your surgeon may choose from a variety of grafts using your own tissue to create a vagina. Possible sources include skin from the outer thigh, buttocks or lower abdomen.

  Your surgeon makes an incision to create the vaginal opening, places the tissue graft over a mold to create the vagina and places it in the newly formed canal. The mold remains in place about one week.

  Generally, after surgery you keep the mold or a vaginal dilator in place but can remove it when you use the bathroom or have sexual intercourse. After the initial time recommended by your surgeon, 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 traction device. Your surgeon places an olive-shaped device (Vecchietti procedure) or a balloon device (balloon vaginoplasty) at your vaginal opening. Using a thin, lighted viewing instrument (laparoscope) as a guide, the surgeon connects the device to a separate traction device on your lower abdomen or through your navel.

  You tighten the traction device every day, gradually pulling the device inward to create a vaginal canal over about a week. After the device is removed, you'll use a mold of varying sizes for about three months. After three months, you may use further self-dilation or have regular sexual intercourse to maintain a functional vagina. Sexual intercourse will likely require artificial lubrication.

• Using a portion of your colon (bowel vaginoplasty). In a bowel vaginoplasty, the surgeon moves 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.

After surgery, use of a mold, dilation or frequent sexual intercourse is needed to maintain a functional vagina. Health care providers usually delay surgical treatments until you feel prepared and able to handle self-dilation. Without regular dilation, the newly created vaginal canal can quickly narrow and shorten, so being emotionally mature and ready to comply with aftercare is critically important.

Talk to your health care provider about the best surgical option to meet your needs, and the risks and required care after surgery.

Coping and support

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

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

Preparing for an appointment

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, including prescription and nonprescription drugs, vitamins, herbal preparations 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 health care provider, so 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 health care provider 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?