What is MRKH Syndrome?
MRKH (Mayer-Rokitansky-Küster-Hauser) syndrome, also called Müllerian aplasia, is a condition present at birth, where a genetically female child (XX chromosome pattern) is born with underdeveloped or absent uterus and upper part of the vagina. Females born with this condition typically have normal secondary sex characteristics like pubic hair and breast development due to ovaries developing normally. In most cases, MRKH Syndrome is diagnosed in the mid teens, when the girl child doesn’t start her period by the age of 15-16 years.
The cause of MRKH Syndrome is not well understood, but is thought to be a combination of genetic and environmental factors. MRKH syndrome is a result of the underdevelopment of the mullerian duct (responsible for forming uterus, uterine tubes, cervix, and the upper part of the vagina) at the fetal stage. Most women born with MRKH have normal looking external genitals.
There are 2 types of MRKH Syndrome –
Type 1 – Only uterus & vagina are abnormal. All other organs in the body are unaffected.
Type 2 – Other body parts are involved. Most commonly affected are the kidneys, uterine tubes, ears and spine.
What are the symptoms of MRKH?
The most obvious symptom, and first sign of the condition is a lack of normal menstruation. Women who have this condition usually have a shallow or underdeveloped vagina making internal sexual intercourse painful or impossible. MRKH syndrome is confirmed by an ultrasound or MRI examination of the lower abdomen & pelvis to confirm the malformation of the affected organs.
Pregnancy through natural conception is not possible for women with MRKH due to the underdevelopment or absence of the vagina and/or uterus.
When MRKH Type 2 is present, other symptoms may be present such as minor hearing loss, spinal deformities, and heart defects.
What is the treatment for MRKH Syndrome?
MRKH syndrome is not life threatening, but has significant effects on the woman’s mental health and quality of life. In addition to medical care, counselling services are strongly recommended due to the emotional difficulties that may arise from inability to have vaginal intercourse and inability to achieve pregnancy. Despite the above mentioned effects on quality of life, most women can be supported in having a healthy sexual relationship and in achieving their family goals through IVF and surrogacy.
It is possible to have a fulfilling intimate relationship with your partner without vaginal intercourse. Most women with MRKH have a normal clitoris and are capable of sexual pleasure & orgasm with non-vaginal intercourse. It is also possible for the woman with MRKH to engage sexually with her male partner through means other than vaginal insertion. Please contact our pelvic floor therapist & sex counselor, Sujata Martin, for personalized guidance on achieving a pleasurable intimate relationship without vaginal intercourse.
For women who desire to engage in vaginal intercourse 2 options are available 1. Self Dilation– This is recommended for those who have a vaginal canal of at least 2.5 cm length. It is recommended to work with a pelvic floor therapist who can correctly educate you on the use of internal vaginal massage and vaginal dilators to increase the length and width of the vagina canal. Most often a daily self dilation protocol of 15-20 minutes is recommended to gradually increase the vagina canal’s dimensions. For an explanation on how to start a self dilation program, please see below.
2. Surgical creation of vagina – There are several different techniques for creation of a vaginal canal, . Please consult with experts in your country and find a surgeon who can give you a complete picture of the surgical technique they use and the risks & recovery process associated with it. In almost all cases, surgical vagina creation requires the woman to maintain a regular dilation schedule to keep the desired vaginal length & depth.
It is strongly recommended to seek a pelvic floor therapy referral after neovagina surgery to correctly learn self dilation and other surgical aftercare. Your pelvic floor therapist will also be able to counsel you in decreasing painful intercourse, which is common after vaginal surgery.
In summary, MRKH is a rare and complicated condition to live with. However, with a good medical care team, girls & women with MRKH can have a fulfilling life and achieve their intimacy & family planning goals. Please read the Resources listed below for more information on living your life with MRKH.
Resources
Below are organizations that share up-to-date information on living with MRKH, including treatment options.
1. Center for Young Women’s Health – https://youngwomenshealth.org/mrkh-all-guides/
2. Beautiful You MRKH Foundation – https://www.beautifulyoumrkh.org/
3. National Health Service (UK) – https://www.imperial.nhs.uk/~/media/website/patient-information-leaflets/childrens-services/disorders-of-sexual-development-and-adolescent-gynaecology/mrkh.pdf?la=en
References
– Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update – https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01491-9
– Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome – Penn Medicine – https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/mayer-rokitansky-kuster-hauser-mrkh-syndrome
– Mayer-Rokitansky-Küster-Hauser syndrome – Medline Plus – https://medlineplus.gov/genetics/condition/mayer-rokitansky-kuster-hauser-syndrome/#resources
– MRKH Surgeons – http://www.mrkh-surgeons.com/mrkh-treatment-options.php
