January 8, 2023

MRKH Syndrome

What is MRKH Syndrome / Vaginal Agenesis?

Vaginal agenesis, also known as Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, and Mullerian agenesis, is a condition in which a person is born without a functional vagina. This condition can occur as a result of a chromosomal abnormality or other genetic factors. It can also be caused by environmental factors such as exposure to certain medications or chemicals during pregnancy. The severity of vaginal agenesis can vary, and some people with this condition may have a small, underdeveloped vagina, while others may have no vaginal tissue at all.

Table of Contents

There are several different treatments available for vaginal agenesis. These may include hormone therapy, surgical procedures to create a functional vagina, or the use of vaginal dilators to gradually stretch the vaginal tissue. The specific treatment recommended will depend on the individual’s unique situation and needs.

Vaginal agenesis is generally identified at the time of puberty when there are no menstruations in spite of developing breasts. However, if the clinical examination is carried out it may be identified earlier. Vaginal agenesis can be identified during fetal ultrasound during pregnancy or during a physical examination after birth. It can also be identified during puberty when a girl does not start menstruating or when she has difficulty with sexual intercourse. A diagnosis of vaginal agenesis may be confirmed through a pelvic examination, imaging tests such as MRI or CT scan, and genetic testing.

Symptoms and features of Vaginal Agenesis

The external shape of the vagina looks like a typical vagina.
The vaginal is either absent and marked only by a slight indentation where a vaginal opening would typically be located, or shortened without a cervix at the end
Absence of a menstrual cycle
Pain or discomfort during urination
Constipation
Abdominal discomfort or pain
Difficulty in sexual intercourse
Infertility
Urinary incontinence
Abnormal appearance or shape of the vulva or vagina
Decreased or absent sensation in the vulva or vagina
Psychological distress or low self-esteem due to physical abnormalities

Associated Medical Conditions

It can be associated with other issues such as:

Kidney abnormalities: Some people with MRKH syndrome may have abnormal development or malformation of the kidneys.
Skeletal abnormalities: Some people with MRKH syndrome may have abnormalities of the bones, such as short stature, the curvature of the spine, or malformation of the pelvis.
Hernias: Some people with MRKH syndrome may have hernias, which are bulges or protrusions of the intestines or other organs through the muscles or tissues that normally contain them.
Hearing loss: Some people with MRKH syndrome may have hearing loss due to abnormal development of the inner ear.
Mental health issues: People with MRKH syndrome may experience a range of mental health issues, including depression, anxiety, and body image concerns, due to the physical and social challenges they face.

Complications of MRKH syndrome

Vaginal agenesis, also known as Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, is a condition that affects the female reproductive system. It is characterized by the absence of the vagina, uterus, and cervix. This condition can cause a number of complications, including:

Infertility: Women with a missing or partially developed uterus are unable to conceive and carry a pregnancy to term, as they do not have a uterus. But if have healthy ovaries, having a baby can be made possible by placing the embryo in the uterus of another person. This procedure is known as Vitro-fertilization/ or surrogacy.
Psychological issues: Women with MRKH syndrome may experience feelings of inadequacy, low self-esteem, and social isolation due to their condition.
Sexual dysfunction: MRKH syndrome can affect sexual function and cause pain during intercourse. but after treatment, your vagina will typically function well for sexual activity.
Urinary problems: Women with MRKH syndrome may have urinary incontinence or difficulty with urination due to the absence of the vagina and uterus.
Pregnancy complications: If a woman with MRKH syndrome becomes pregnant through assisted reproductive technologies, she may be at increased risk for complications such as preterm labor and placental abnormalities.

Management of MRKH syndrome may involve surgical procedures to create a neovagina, as well as psychological counseling to address any emotional and social issues related to the condition.

Diagnosis of MRKH Syndrome

Diagnosis of Vaginal Agenesis can be made on the basis of medical history and physical examination conducted by a gynecologist or pediatrician. Generally, this condition is diagnosed at the time of puberty, when menstrual periods do not start. The rest of the puberty signs like the growth of breasts, and pubic hair appear normally. Sometimes vaginal agenesis can be diagnosed at an earlier age during an evaluation for other problems or when parents or a doctor notice a baby has no vaginal opening.

Your health care provider may recommend testing, including:

Blood tests. In some cases, additional tests such as blood tests, imaging studies, or genetic testing may be performed to help confirm the diagnosis and determine the underlying cause. It is important to seek medical attention if you have concerns about your vagina or reproductive system. Your healthcare provider will be able to provide you with more information and recommend appropriate treatment options.
Ultrasound. In the case of vaginal agenesis, an ultrasound can be used to determine the extent of the absence of the vagina and the presence of other reproductive organs. Treatment for vaginal agenesis may include hormone therapy, surgery, or the use of a dilator to help create a functioning vagina.
Magnetic resonance imaging (MRI).During the MRI scan, the radiologist will be able to see detailed images of the pelvic organs, including the uterus, fallopian tubes, and vagina (or lack thereof). This can help the radiologist diagnose vaginal agenesis and determine the extent of the condition.The MRI scan is painless and does not expose the patient to radiation, making it a safe and effective method for diagnosing vaginal agenesis.
Other testing. Your healthcare provider may also order other tests to examine your hearing, heart and skeleton.

Treatment of MRKH Syndrome

Treatment of vaginal agenesis can be started at the age of puberty, but if the patient does not willing to be treated, wait until she feels motivated and ready to participate in treatment. There is no other medication, except self-dilation, and surgical treatment. Self-dilation can be done by the patient herself, by inserting a dilator and stretching the vaginal opening up to an extent of readiness for penetration. While the surgical treatment is carried out by a doctor. Most of the treatment get successful.

Self Dilation Method

Self-dilation therapy involves using specially designed dilators (usually made of silicone or plastic) to gradually stretch the vaginal tissue. This therapy can be used to create a functional vagina, or to improve the flexibility and function of an existing vagina.

To perform self-dilation therapy, a woman will typically be given a set of dilators of various sizes. She will be instructed to use the smallest dilator first, gradually working up to larger sizes as her body becomes accustomed to the stretching. The dilators are typically used for a few minutes at a time, a few times per week.

Self-dilation therapy is usually performed under the guidance of a healthcare provider, who will provide instruction and support throughout the process. It is important to follow the recommended treatment plan and to be patient, as it can take several months or even years to achieve the desired results.

If you have MRKH syndrome and are interested in self-dilation therapy, it is important to discuss this treatment option with your healthcare provider to see if it is appropriate for you.

There is another use of dilator, and that is by riding a bicycle. This dilator is known as Frank Dilator. Frank dilators are the best first-line approach. Patients use the dilators, increasing in length and diameter, with spandex underwear as they sit on a stationary racing bicycle seat for 30-120 min/day. This process uses pressure to create the vagina. Care must be taken to avoid dilating the urethra.

Surgery Method

If the patient is unable to carry out self-dilation or self-dilation does not work, the second option to treat the condition is surgical dilation, which can only be taken out by the healthcare provider. There are several surgical methods, which can treat the condition, for example;

Method of Tissue Graft

One treatment option for MRKH syndrome is a tissue graft procedure, which involves using tissues from another part of the body to create a new vaginal canal. The most common type of tissue used for this purpose is skin tissue, which is grafted from an area such as the thighs or the buttocks. The tissue graft procedure is typically performed by a specialist in reproductive medicine or urogynecology. It may be done in combination with other surgical procedures, such as the creation of a neovagina using a technique called “laparoscopic Davydov.” The success rate of tissue graft procedures for MRKH syndrome is generally high, and most women are able to have a normal sexual functions and experience pregnancy after the procedure.

Generally, after surgery, you keep the mold or a vaginal dilator in place but can remove it when you use the bathroom or have sexual intercourse. After the initial time recommended by your surgeon, you’ll use the dilator only at night. Sexual intercourse with artificial lubrication and occasional dilation helps you maintain a functional vagina.

Bowel Vaginoplasty

There is another substitute for tissue grafting, and that is bowel vaginoplasty. In this option a surgical procedure that involves using a section of the patient’s intestine to create a functional vaginal canal. This procedure is typically performed in stages, with the first stage involving the creation of a vaginal canal and the second stage involving the construction of a functional cervix.

The benefits of bowel vaginoplasty include the ability to have sexual intercourse, improved genital self-image, and improved quality of life. However, there are also risks associated with this procedure, including the possibility of infection, bleeding, and problems with the intestinal tissue used for the vaginoplasty.

Overall, bowel vaginoplasty is a complex and specialized procedure that should be performed by an experienced surgeon. It is important for individuals with MRKH syndrome to discuss all treatment options with their healthcare provider and make an informed decision that is best for their individual needs and circumstances.

Vecchietti Procedure

Your surgeon places an olive-shaped device (Vecchietti procedure) or a balloon device (balloon vaginoplasty) at your vaginal opening. Using a thin, lighted viewing instrument (laparoscope) as a guide, the surgeon connects the device to a separate traction device on your lower abdomen or through your navel.

You tighten the traction device every day, gradually pulling the device inward to create a vaginal canal over about a week. After the device is removed, you’ll use a mold of varying sizes for about three months. After three months, you may use further self-dilation or have regular sexual intercourse to maintain a functional vagina. Sexual intercourse will likely require artificial lubrication.