MRKH syndrome occurs in approximately 1 in every 4,000-5,000 females at birth. However, evidence suggests it is likely underdiagnosed making its exact prevalence hard to determine in the general population. It is the second most common cause of primary amenorrhea and is often not identified until early adolescence. Although MRKH syndrome only affects females by definition, recent research has noted similar symptoms presenting in males. Affected males have presented absence or underdevelopment of the Wolffian duct, which is an organ present in a developing embryo that eventually develops into certain structures including the vas deferens (tube connecting the testes and urethra). They may also have lower sperm counts in their semen (azoospermia), kidney abnormalities, spinal malformations, hearing problems and other physical conditions. 

There is no single cause for MRKH syndrome and it remains unclear. However, in recent years, there is increasing evidence to suggest that MRKH syndrome is a genetic disorder. 

Typically, the most common and initial sign of MRKH syndrome is a lack of menstrual cycle (primary amenorrhea). However, the two types of MRKH syndrome can have varying symptoms. These include:

• Type I: The main feature is the absence or underdevelopment of the uterus and upper vagina. All other organs are unaffected. Symptoms typically include: diminished vaginal depth and width, painful sexual intercourse.

• Type II: Other organs are affected and symptoms therefore include: kidney issues, skeletal malformations, some hearing loss, heart defects.

Individuals affected by MRKH syndrome will typically receive a diagnosis following a physician’s appointment to address their lack of period (primary amenorrhea). The physician will conduct a physical examination and may use an ultrasound to identify any cervix or uterus. In type II, individuals may receive more testing in response to problems with other areas of the body, including kidney and spinal issues.

Following a physical examination, the following tests may be performed to explore the issue and confirm the diagnosis:

• Ultrasound

• MRI

• Additional tests concerning any other organs affected (eg type II MRKH syndrome)

As this is a complex condition, treatment may require several options. These options may be surgical and nonsurgical procedures, which depend on the individual’s symptoms and preferences. 

Surgical treatments include:

• Vaginoplasty - A surgery to create a functioning vagina.

• Uterus transplant

Nonsurgical treatments include:

• Self-dilation - This self-administered treatment involves the affected individual using a series of incrementally larger dilators (small, round rods) to dilate or expand her existing vagina, which typically occurs over the course of several months.

• Vaginal dilation through intercourse - In some cases, individuals with MRKH syndrome may find frequent intercourse helpful in expanding their existing vaginas over time. However, this may cause discomfort and bleeding, when not efficiently lubricated. 

Individuals with MRKH syndrome can lead normal lives, but with the exception of intercourse and conceiving children naturally. With certain treatments, it is possible for individuals with MRKH syndrome to undergo corrective surgery or treatments to reduce any vaginal pain and even conceive children. Most women will still have functioning ovaries with eggs, which makes in vitro fertilization a possible option for having children. Individuals with type II may find that their treatment requires more specialists depending on the severity of any other organ complications (e.g. kidney, spinal issues). 

Baptist Health. What is MRKH? 2020. Available from: https://www.baptisthealth.com/services/womens-care/conditions/mrkh-syndrome 

National Organization for Rare Disorders. Mayer-Rokitansky-Kuester-Hauser Syndrome. 2014. Available from: https://rarediseases.org/rare-diseases/mayer-rokitansky-kuster-hauser-syndrome/

Penn Medicine. Mayer-Rokitansky-Kuester-Hauser (MRKH) Syndrome. 2020. Available from: https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/mayer-rokitansky-kuster-hauser-mrkh-syndrome

Seattle Children’s Hospital: Patient and Family Education. MRKH Syndrome. N.d. Available from: https://www.seattlechildrens.org/pdf/pe1265.pdf