Children's Hospital Colorado

Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome

What is Mayer-Rokitansky-Kuster-Hauser syndrome?

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, also known as vaginal agenesis, is a congenital disorder, meaning the condition was present at birth.

Typically, internal female organs including the uterus, fallopian tubes, ovaries and vagina develop in the first few months during a baby's growth inside her mother's uterus. With MRKH, development of the internal female organs is incomplete.

Girls with MRKH have normal ovaries and fallopian tubes, but their vagina and uterus are underdeveloped. They may be completely absent or very small.

MRKH does not affect the development of external female parts. Girls with MRKH have normal pubic hair, labia, clitoris and lower vagina. Girls with MRKH have normal female chromosomes (46 XX).

MRKH affects about 1 in 5,000 girls.

What causes MRKH?

MKRH occurs when the uterus and vagina do not develop completely during a baby's growth inside her mother's uterus. We don't know exactly what causes MRKH. Some experts think there might be a genetic cause, but this hasn't been found yet.

What are the signs and symptoms of Mayer-Rokitansky-Kuster-Hauser syndrome?

Girls with MRKH have normal breast and pubic hair development during puberty, but they will not have menstrual periods. Because the ovaries are present and functioning normally, girls with MRKH may have cyclic symptoms such as mood changes, pain and bloating related to ovulation.

If a very small uterus is present with a functional uterine lining (period lining), girls may have cyclic pelvic pain due to obstructed menstrual flow.

Some girls with MRKH will also have kidney abnormalities, such as an absent kidney or misplaced kidney. Hearing loss and spinal problems like scoliosis are also seen in some girls.

Other effects later in life

Women born without a uterus or a very small uterus (also known as a uterine remnant) cannot carry their own pregnancies. However, since the ovaries are normal, eggs can be removed, fertilized with sperm outside of the body and then transferred to a gestational carrier (a woman who carries and delivers a baby for someone else).

What evaluation is used to diagnose MRKH?

Adolescent gynecologists at Children's Hospital Colorado will start the evaluation by taking a health history. Depending on the age, comfort and interest of the patient, the doctor might perform a gentle and careful physical exam to assess the length of the vagina. The doctor may also order blood tests that check hormones and chromosomes if it hasn't already been done. Lastly, the doctor may order a pelvic ultrasound or magnetic resonance imaging (MRI) to confirm the diagnosis and evaluate the kidneys.

What can I expect from the pelvic exam?

The doctor will only perform a pelvic exam if you are ready. The doctor will start by looking at the external female parts. To assess the vaginal length, the doctor will place a lubricated Q-tip or gloved finger into the vagina. The pressure from this part of the exam can be uncomfortable, but it shouldn't be painful.

How is Mayer-Rokitansky-Kuster-Hauser syndrome treated?

Treatment is individualized and dependent on your goals. The diagnosis of MRKH can be stressful and challenging, but your doctor at Children's Colorado will help you each step of the way. If needed, your doctor may recommend counseling or connecting with a local or national support group.

Your doctor will also discuss options for creating or lengthening the vagina. This is a personal decision and should only be started when you are ready for it. Most young women choose to do this in late adolescence or early adulthood.

What is vaginal dilation?

Vaginal dilation stretches the skin in the vaginal area to help create a vagina. There are many different types and sizes of dilators, but most are hard plastic and look like a candlestick. When you are ready for it, your doctor will teach you how to use the dilator and monitor your progress.

In general, we advise starting treatment with vaginal dilation because it is effective, noninvasive, and is not associated with surgical risks.

What do I need to know about surgical treatment for MRKH?

Surgical creation of the vagina, also known as vaginoplasty, requires general anesthesia and is usually maintained with vaginal dilation after surgery. There are several methods to surgically create a vagina, but most require taking tissue or skin from another part of your body.

Does MRKH cause other health complications?

A very small uterus with endometrial lining can cause pain and endometriosis. Endometriosis is a condition that causes the lining inside the uterus to grow outside of the uterus. If this is a concern, the doctor might recommend hormonal medicine or laparoscopic surgery to further evaluate and treat this condition.

Your doctor will discuss your options for starting a family and can provide a referral to infertility specialists if you are interested in in-vitro fertilization (IVF) with a gestational carrier.

Why choose Children's Colorado for MRKH treatment?

Our board-certified pediatric and adolescent gynecologists have specialized training in the reproductive health concerns of girls of all ages. We understand that MRKH can be stressful and we are sensitive to the needs of our patients. We will put families and patients at ease by carefully explaining the medical condition and then discussing the various options for treatment.

We’ll also support your family with follow-up visits and consultation with our colleagues in other specialties as needed, including psychology, urology, endocrine and surgery.

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