Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system. This condition is characterized by an underdeveloped vagina and uterus. The uterus may be small or absent and the vagina is typically shortened. People with MRKH have normally-functioning ovaries and a female chromosome pattern. MRKH occurs when a fetus is developing and is present in about 1 in every 4,500 females at birth.

External genitalia and secondary sexual characteristics, like pubic hair and breasts, develop normally. However, people with MRKH typically do not experience menstrual cycles.

Due to an underdeveloped or absent uterus, people with the condition cannot carry a pregnancy and therefore have Uterine Factor Infertility (UFI). Individuals who had the uterus surgically removed or have a uterus that does not function properly also have UFI. UFI is a previously irreversible form of female infertility that affects as many as 5 percent of reproductive-aged women worldwide.

Mayer-Rokitansky-Küster-Hauser syndrome cases are generally broken into two types:

• In MRKH syndrome type 1, the uterus and upper vagina are abnormal, but other organs are unaffected.
• In MRKH syndrome type 2, women experience abnormalities in other organs as well (most often the fallopian tubes, and commonly the kidneys and the spine).

In the majority of MRKH cases, an underdeveloped uterus makes it impossible to carry a baby. Nevertheless, healthy ovaries make it possible to have a biological child via assisted reproduction.

A nonexistent menstrual period by age 16 is often one of the first signs of MRKH syndrome, but there may be other symptoms.

Symptoms of MRKH type 1 include:

• Painful or difficult sexual intercourse
• Reduced vaginal depth and width

Symptoms of MRKH type 2 are similar to type 1, but may also include:

• Kidney complication or failure due to abnormal kidney formation or positioning, or a missing kidney
• Skeletal abnormalities (most commonly of the spinal vertebrae)
• Minor hearing loss
• Heart defects
• Other organ-related complications

Diagnosis for type 1 Mayer-Rokitansky-Küster-Hauser syndrome often happens in later adolescence, when a young woman hasn’t started her period. A type 2 diagnosis can be prompted by an absent period or a wide range of other organ-related symptoms or abnormalities, sometimes at an earlier age.

Because shortened vaginal depth is often linked to MRKH, at the first sign of MRKH, doctors might use a device or gloved finger to gauge the vagina’s depth before ordering a pelvic ultrasound or MRI. The ultrasound will show whether a uterus or womb is present, and it can confirm the presence of fallopian tubes and kidneys.