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Medical Information about MRKH


What does MRKH stand for?

Mayer-Rokitansky-Kuster-Hauser Syndrome is named for the four physicians who first diagnosed the condition (which is very common in the medical field). Other common terms for MRKH include Mullerian Agenesis and Vaginal Agenesis/Atresia. It occurs in approximately 1 in 4000 or 5000 women.

What are the symptoms of MRKH?

MRKH is a congenital condition (which means it is present at birth) that results from the incomplete development of the female reproductive tract. Women with MRKH have fully functional ovaries that can be located in unusual places in the body cavity. They are genetically female, as they have two X chromosomes and a normal chromosome analysis (i.e. 46, XX). The primary symptoms are failure to menstruate. Typically, women with MRKH lack a fully functional uterus, cervix and upper vaginal canal. They have normal external genitalia and breast development, and often have a small external vaginal opening, called a ‘dimple’ that looks like a hymen. Although women with MRKH are incapable of carrying children, it is possible for most to have biological children through the use of assisted reproductive therapies and gestational surrogacy.  

MRKH can also encompass other symptoms. The most common of these involve the kidneys. In some women with MRKH, their kidneys are abnormally formed or positioned in different places, and other women have a single kidney that can be positioned in various places throughout the abdominal cavity. Other symptoms include skeletal abnormalities (that usually are detected in the vertebrae), hearing loss and/or ringing in the ears (tinnitus) and heart defects.

How is MRKH diagnosed?

The primary reason that teens and women with MRKH seek a physician’s care is because they fail to menstruate by age 16. The first physician most teens see is a local family physician or gynecologist. Most medical doctors have never heard of MRKH, and this lack of knowledge can prolong the time to diagnosis. In the USA, the patient will most likely be referred to several specialists at the nearest teaching hospital. Most patients see at least a geneticist and a gynecologist; some will also see an endocrinologist, a surgeon and possibly a urologist. A few clinics also offer the patient the option to see a clinical psychologist who specializes in reproductive issues. The patient will be examined by these specialists, and an ultrasound, MRI or laproscopic surgery is usually done during this time. This process can take weeks or months, and can be very stressful, traumatic and invasive to the patient. 


Links to Medical Websites


Center for Young Women’s Health (for teens)

Center for Young Women's Health (for parents)
Genetics Home Reference (NIH)  

MRKH on OMIM

MRKH UK Website
Seattle Children's Hospital

Texas Children's Hospital

The University of Michigan Health System