Mayer-Rokitansky-Küster-Hauser Syndrome

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome) is a rare condition where your uterus and upper vagina are missing or don’t fully develop. It’s something you’re born with. Your ovaries and vulva (external genitals) usually develop normally. In certain types of MRKH syndrome, organs like your kidneys and spine may form differently.

You typically discover you have MRKH syndrome during your teen years when you don’t get your period. Sometimes, sex is painful or impossible due to your vaginal canal being short and narrow.

MRKH syndrome makes carrying a pregnancy impossible without medical help. But if you have working ovaries that make eggs, IVF and surrogacy may be an option. Talk to your healthcare providers about your desire for children so they can work with you.

MRKH syndrome is also called:

• Müllerian agenesis
• Müllerian aplasia
• Congenital absence of the uterus and vagina
• Rokitansky syndrome

Types of MRKH syndrome

There are two types:

• Type 1: You have normally functioning ovaries and fallopian tubes but have a blocked or missing upper vagina, cervix and uterus. No other organs are affected.
• Type 2: You have a blocked or missing upper vagina, cervix and uterus. You also have issues with your ovaries, fallopian tubes, spine, kidneys or other organs.

Symptoms of MRKH syndrome

Symptoms of MRKH syndrome can vary depending on the type you have.

In many cases, not getting your first period by age 16 may be a sign of MRKH. You may still have bloating, mood changes or other symptoms without any bleeding.

You’ll develop breasts and get underarm and pubic hair. You may also have pain when you try to have vaginal sex for the first time. This is because your vagina is thinner, narrower and shorter than a typical vagina.

If you have type 2 MRKH syndrome, you may also have complications like:

• Missing one or both kidneys
• Issues with your spine, like scoliosis or missing vertebrae
• Increase risk for kidney stones, urinary tract infections and ureteral obstructions
• Hearing loss
• Heart problems

What are the psychological effects?

MRKH syndrome can affect your self-esteem or your desire to have intimate relationships. These feelings can impact your quality of life.

Your healthcare provider may recommend finding a support group or seeing a therapist or counselor to help you cope with an MRKH diagnosis.

MRKH causes

Researchers aren’t sure what causes MRKH syndrome, but they know issues with genes and chromosomes play a role. The condition hasn’t been traced to one gene. It’s not caused by something someone did during pregnancy.

MRKH develops in the first few weeks of fetal development, when the reproductive system forms. Your fallopian tubes, uterus, cervix and upper vagina grow from the Müllerian ducts. With MRKH syndrome, these ducts don’t finish developing.

Your ovaries develop from another structure, which is why they’re usually unaffected.

Risk factors

Most people don’t seem to have any known risk factors. Experts think your genes can play a role because the condition may run in families. But it can also occur with no family history.

Complications

You can’t carry a pregnancy if you have MRKH. But you can still have a biological child through IVF with a gestational carrier.

People with type 2 MRKH syndrome may have issues with other organs, like their kidneys, spine or heart. Your healthcare provider will run tests to see how MRKH affects these organs.

Endometriosis or cyclic pelvic pain can also happen if you have uterine remnants that still have active endometrial tissue. These are small pieces of tissue that didn’t develop fully into your uterus. It’s more common in type 1 MRKH. These remnants may need surgical removal if they’re causing pain.

How doctors diagnose MRKH syndrome

Healthcare providers diagnose most cases of MRKH syndrome when a teenager doesn’t get their first menstrual period.

The first step involves getting a physical exam. Your healthcare provider will insert a gloved finger into your vagina to measure its depth and width. Your provider will likely find a shortened or narrowed vagina. Then, they’ll order imaging tests like an ultrasound or MRI to see if other organs are affected. Your provider may order blood tests to check hormone levels.

How is it treated?

Treatment for MRKH depends on your goals and symptoms. Some options are:

• Vaginal dilators: These tubelike devices help stretch your vagina. Dilators are made of plastic or silicone and vary in length and width. They help expand and stretch the inside of your vagina. Your provider will discuss the best way to use a vaginal dilator.
• Vaginoplasty: This is a surgical procedure to create a vagina. There are several ways surgeons perform vaginoplasty, but most involve creating a hole and lining it with tissue from another part of your body.
• Uterus transplant: This is a major surgery that involves placing a donor uterus inside someone without a uterus. Uterine transplants give people with MRKH an opportunity to carry and deliver a child. Uterus transplants are rare.

Your provider may recommend surgery to remove uterine remnants if they cause pain. If other organs are affected, you may need to receive care and monitoring for those issues. For example, you may see a kidney specialist if your kidneys are affected.

When should I see my healthcare provider?

You should contact a provider if you haven’t gotten your first period by about 16. They’ll run tests to see if MRKH syndrome is the cause.

Can you get pregnant with MRKH?

Yes, people with MRKH can have a child. If your ovaries contain eggs, you can have a baby using IVF and a gestational carrier.