Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder that impacts about 1 in 4,500 women. The condition is characterized by the congenital non-existence or underdevelopment of the uterus and upper vagina. This is commonly associated with adysplasia/unilateral renal agenesis and skeletal malformations.
MRKH syndrome is divided into Type I and Type II. In Type 1 MRKH, about two-thirds of the female’s vagina is absent. Type II MRKH includes other malformations such as cardiac, vertebral, otologic, and urologic anomalies. With surgical intervention, normal sexual function may be possible.
Signs and Symptoms of Mayer-Rokitansky-Küster-Hauser Syndrome
Without an experienced eye, MRKH can be difficult to spot. The women who suffer from MRKH syndrome showcase a normal female chromosome pattern, as well as normal functioning ovaries. In addition to this, their other external genitalia are also normal and they have natural pubic hair and normal breast development.
Women who are affected by Mayer-Rokitansky-Küster-Hauser disorder typically lack menstrual periods due to the absence of their uterus. In most cases, the first sign of the syndrome is the failure to begin a menstrual cycle by the time a girl reaches the age of 16 years.
Usually, women who have MRKH are not able to conceive but might be able to reproduce via assisted reproduction.
Other signs and symptoms of MRKH syndrome may include the following:
• Periodic abdominal pain due to endometrial shedding in the absence of an exclusive drainage pathway
• Difficulties attempting sexual intercourse
• Pain during intercourse
• Urinary incontinence, voiding issues, and/or recurrent UTIs
Diagnosis
MRKH syndrome is most commonly diagnosed when a woman is still young, in between the ages of 15 and 18 years. You should consider visiting your gynecologist or general physician if you notice that your menstrual cycle hasn’t begun yet.
Your doctor may need to examine your external genitalia and the length of your vagina. To do this, doctors generally place a gloved finger or Q-tip at the vaginal opening for examination. They will carefully put the tip into your vagina to check its depth.
In case your doctor finds evidence of a possible MRKH syndrome diagnosis, he will make arrangements for you to undergo an MRI (magnetic resonance imaging) or ultrasound test.
Treatment/Management
The main objective in treating MRKH is to leave the patient with a smooth, unscarred vagina that permits normal sexual function. The removal of the uterine anlage could also help in preventing endometriosis.
Different treatments for MRKH include the following:
• Perineal dilation, or the Frank technique: This is the single non-surgical treatment for MRKH.
• The McIndoe technique: This is the most commonly used surgical treatment for vaginal reconstruction.
• Williams vaginoplasty: Makes use of vulva for creating a vaginal tube.
• Intestinal neovagina: Makes use of an isolated bowel segment for the vagina.
Rotational flap procedures and the Vecchietti technique are the other two surgical treatments for MRKH.
Contact Our Office
If you feel like you or a loved one could possibly be suffering from Mayer-Rokitansky-Küster-Hauser syndrome, it’s important to be diagnosed as soon as possible. Contact us to schedule a consultation with experienced Doctors John R. Miklos and Robert D. Moore, who can properly diagnose you and help answer any questions you have.