MRKH SYNDROME: TYPE I

MRKH syndrome is the most common type of vaginal agenesis. Agenesis is Latin for "not developed," and the MRKH diagnosis affects about one in every 4,500 to 5,000 females. However, genetic studies in the last 5 years now indicate that it may occur in every 2500 women and is rapidly increasing.

MRKH syndrome doesn't affect external genitalia, and people diagnosed with MRKH often have generally functioning ovaries. But they have a small vaginal opening, between 1 and 3 centimeters (cm) deep. This may be referred to as the "vaginal dimple." It's the internal genitalia that's affected in people with MRKH Syndrome. They typically have no uterus and no, or only a partial, vaginal canal. Because the vulva appears normal, women may only discover they have MRKH Syndrome when they fail to get their menstrual period. Or, they may try and fail to have vaginal intercourse. This will be impossible without guided dilation treatments, or corrective surgical repair by a specialist.

The effects of MRKH syndrome on a person's daily life depend on how strongly their body has been affected by the condition. It’s important to review the patient’s medical records for any other issues that may seem unrelated. Type 1 is rarer than Type 2. Recent studies show that these women’s nervous system pathways have been altered due to mutation that occured during development in the womb, requiring additional awareness and study, as side effects have been shown to increase over time when left unaddressed. Treatment also depends on the classification of the severety of the gene mutation in each individual or family line.

Psychological and family support is important when dealing with MRKH syndrome. Being born without a uterus and lacking most of a vagina can cause serious problems for self-esteem and daily interactions with relationships that are deeper than an acquaintance. There are online support groups recently available, but we advise caution as you make your choice on which group as begin interaction, and speak to a representative from an MRKH NonProfit you trust and be comfortable with the level of security of your anonymity and how the chat room is overseen. Nothing can take the place of in-person support and therapy with a qualified counselor. All healthcare providers in the United States and in Great Britain are now legally obligated to provide an immediate therapy referral for all women diagnosed with MRKH Syndrome that enter the, or they will be under immediate review to have their medical license revoked for negligence of patient care.

MRKH SYNDROME: TYPE II

In addition to the malformations of MRKH Syndrome Type I, these women will have some or all of the following: skeletal abnormalities and paralysis, missing or malformed kidneys, endometriosis, autoimmune diseases, wakeful seizures, cardiovascular diseases, chronic fatigue, hormone imbalance, malnutrition, urinary tract infections, partial or complete blindness, early onset osteoporosis, blood sugar imbalances, gut lining abnormalities or damage, and partial or complete hearing loss.

The effects of MRKH syndrome on a person's daily life depend on how strongly their body has been affected by the condition. As psychological distress is very notable in young women with MRKH, it is essential for the patients and their families to attend counseling before and throughout treatment. The MRI is a non-invasive technique that provides a more sensitive and more specific means of diagnosis than ultrasonography. It should be performed when ultrasonographic findings are inconclusive or incomplete, since failure to clearly identify the uterus or Müllerian rudiments or ovaries does not necessarily imply their absence. An MRI allows an accurate evaluation of the uterine aplasia, as well as a clear visualization of the rudimentary horns and ovaries. The uterine aplasia is best characterized on sagittal images, while vaginal aplasia is best evidenced on transverse images. Moreover, an MRI can be used at the same time to search for associated kidney and skeletal malformations. Since renal and skeletal abnormalities may not be symptomatic at the time of diagnosis, it is necessary to perform at least transabdominal ultrasonography & spine radiography. In case of suspicion of hearing impairment and/or a cardiac anomaly, complementary audiogram and/or heart echography must also be carried out.

Treatment consisting of creating a neovagina must be offered to women only when they are ready to start sexual activity and also when they are emotionally mature. Treatment may be either surgical or nonsurgical, but the chosen method needs to be tailored to their individual needs, her level of motivation, psychological stability, and the options currently available in her area of travel. When a surgical approach is chosen, the surgeon must be very experienced with the procedure, provide a private recovery hospital room for four days before discharge, and be able to provide intense daily follow up care for a minimum of four weeks, with her located no farther than a 15 minute drive from their practice during this period to avoid severe complications. Clinical follow-up every week, followed by monthly appointments, and also regular intercourse take place in the mid- and long-term successful process to ensure physical and mental stability during that time. The woman's partner must be made aware of the extreme level of both physical, emotional, and neurological care needed during any intercourse during the recovery that will take place on average for 12 month's time. Above all, a careful psychological preparation of the patient before any treatment or intervention is of major importance. The affect on the woman’s central nervous system will be long lasting as new pathways are opened and connected to the brain, leading to limits of the level of noise, interaction, and emotional pulls that can be placed on her during the initial four to eight weeks of recovery. As long as great care is taken during this time period to ensure overstimulation of her central nervous system does not occur, she will experience great levels of emotional recovery from past trauma, and her relationship with her partner will be stronger, leading to a new confidence not as readily seen in dialtion treatments.

However, if this level of care during a surgical procedure and follow up care cannot be provided, surgery is heavily discouraged, as this can lead to a failure in the healing process, scarring, psychological and neuroligical trauma, and a need to repeat the surgical process within five years.

If this is the case in the area, please contact us or a trusted local physician about dialation treatments, and speak to us or other MRKH women in trusted chat rooms about the best ways to avoid psychological and physical trauma during the three to six months required to complete the process.

Investigation of the patient's relatives may also be recommended, mainly for renal but also for skeletal malformations. For a long time the syndrome has been considered as a sporadic anomaly, but an increasing number of familial cases now support the hypothesis of a genetic cause. Also, the risk for transmission of the disease cannot be accurately evaluated, since very little is currently known about genetics of the MRKH syndrome. This highlights the need for more research in this field.

GENETIC STUDIES

In the last decade, more and more genetic studies have been conducted independently world-wide, and we have collected many for your easy access and are available for download on our site free of charge. Please browse our site for our current documents, and continue to check back as we collect more documents, studies, as well as provide detailed interviews from the amazing doctors currently championing this field of care and study.