What is MRKH Syndrome?
MRKH (Mayer-Rokitansky-Küster-Hauser) Syndrome, also called Müllerian aplasia, is a rare condition present at birth, where a genetically female child (XX chromosome pattern) is born with an underdeveloped or absent uterus, cervix, and upper part of the vagina.
MRKH syndrome is a result of the underdevelopment of the Müllerian duct (responsible for forming the uterus, uterine tubes, cervix, and the upper part of the vagina) at the fetal stage. Secondary sex characteristics, such as breasts, pubic hair, and external genitals, typically appear normal as the ovaries usually produce adequate sex hormones.
Although women with MRKH syndrome can often produce eggs from the ovaries, they may be unable to carry a pregnancy due to the absence of a functional uterus. In most cases, MRKH syndrome is diagnosed in the mid-teens when a girl has not started her period by the age of 15-16 years. Imaging techniques like ultrasound or MRI can confirm the absence or underdevelopment of the reproductive organs.
The condition is inherited in some cases, though many times it occurs sporadically without a family history. Research is ongoing to better understand its causes and improve treatment options.
There are two types of MRKH Syndrome:
- Type 1 – Only the reproductive tract (uterus, cervix, & vagina) are affected.
- Type 2 – Includes additional features such as kidney problems, skeletal abnormalities, or hearing loss (this type is often referred to as MURCS syndrome, which stands for Müllerian duct anomaly, Renal anomalies, and Cervicothoracic somite abnormalities).
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.
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 quality of life and mental wellbeing. 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.
For Women Who Desire to Engage in Vaginal Intercourse, 2 Options Are Available:
- Self Dilation – This is recommended for those who have a vaginal canal of at least 2.5 cm length. It is strongly 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. The goal is not to force or tear the tissues to open, but to gently dilate over time, please make sure you do not cause harm to the tissues.
- Surgical Creation of a 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.
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.
