How is Mayer-Rokitansky-Küster-Hauser syndrome diagnosed?

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

The first step in diagnosing the condition is to perform a physical exam. Your healthcare provider will insert a gloved finger into your vagina to measure its depth and width. MRKH is associated with a shortened vagina, which your provider will likely discover through this exam. They’ll order imaging tests like an ultrasound or magnetic resonance imaging (MRI) to see if your uterus, fallopian tubes, kidneys or other organs are affected. Your provider may order blood tests to check hormone levels.

What are the symptoms of MRKH syndrome?

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

In many cases, not getting a menstrual period (amenorrhea) by age 16 may be a sign your uterus or vagina isn’t developed. If your ovaries function normally, you may still have bloating, mood changes or other menstruation-related symptoms without any bleeding.

Because you have female chromosomes and hormones, you’ll experience typical sexual development such as growing breasts and underarm and pubic hair. You may also experience difficulty or pain when you try to have vaginal intercourse for the first time. This is because your vagina is thinner, narrower and shorter than a typical vagina.

If you have the second type of MRKH syndrome, you may also have:

Kidney complications or missing one or both kidneys.
Issues with your spinal vertebrae or other skeletal malformations.
Hearing loss.
Complications with your heart.

What causes Mayer-Rokitansky-Küster-Hauser syndrome?

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

Your reproductive system develops within the first few weeks of fetal development. Your fallopian tubes, uterus, cervix and upper vagina form from Müllerian ducts. With MRKH syndrome, the Müllerian ducts don’t finish developing. No one has figured out why this occurs in some people and not others. Your ovaries develop separately from the rest of your reproductive organs, which is why most people’s ovaries are unaffected.