Mayer-Rokitansky-Kuester-Hauser Syndrome

Mayer-Rokitansky-Kuester-Hauser Syndrome

Mayer-Rokitansky-Küster-Hauser syndrome is a congenital malformation that only occurs in women. The patients do not have a vagina, so they cannot have sexual intercourse.

What is Mayer-Rokitansky-Kuster-Hauser Syndrome?

Mayer-Rokitansky-Kuster-Hauser Syndrome is also known as MRKH Syndrome or Küster-Hauser Syndrome. What is meant by this is a genital malformation in women who do not have a vagina. Without treatment, vaginal intercourse is not possible for them. For what is metabolic acidosis, please visit beautyphoon.com.

However, modern medical methods offer the option of a functional neovagina. Ovarian function is not affected by MRKH syndrome, which means that secondary sexual characteristics can develop normally. The information on the frequency of Mayer-Rokitansky-Küster-Hauser syndrome varies and varies between 1:10,000 and 1:4500.

In medicine, the MRKH syndrome is divided into different forms. These are the isolated MRKH syndrome type I, the MRKH syndrome type II and the atypical Mayer-Rokitansky-Kuester-Hauser syndrome. In isolated MRKH type 1, there is a congenital absence of the vagina and uterus.

MRKH type II is used when other malformations are present. The atypical Mayer-Rokitansky-Küster-Hauser syndrome is inherited in an autosomal dominant manner. This results in mutations in the WNT4 gene on chromosome 1.

Causes

The exact causes of Mayer-Rokitansky-Küster-Hauser syndrome are unknown. It is suspected that there is a chromosomal disorder that causes a malformation of the Müllerian ducts. Due to this inhibition malformation, the canalization of the genital cord does not occur in the second embryonic month.

This in turn causes a genetically determined underdevelopment (hypoplasia) or a complete non-development (aplasia) of the vagina and uterus. MRKH syndrome is only seen in females. The affected women do not have a vagina and therefore cannot engage in vaginal sexual intercourse. Nevertheless, her appearance is normally female.

They have a normal libido and the ability to have an orgasm. Because the uterus is either rudimentary or non-existent, the affected women are unable to give birth to children. The ovaries, on the other hand, are not affected by the MRKH syndrome.

While it is possible for Mayer-Rokitansky-Küster-Hauser syndrome to occur in isolation, it is more commonly associated with renal and vertebral abnormalities. In some cases, the patients also suffer from hearing and heart defects.

Symptoms, Ailments & Signs

The Mayer-Rokitansky-Küster-Hauser syndrome usually only becomes noticeable during puberty. Up to this point, there are usually hardly any complaints. The first sign of MRKH syndrome is primary amenorrhea, in which there is no monthly menstrual period.

Primary amenorrhea is when menstrual bleeding has not yet taken place. In addition, those affected suffer from problems during sexual intercourse. So this is hardly possible with them. Due to the functionality of the ovaries, breasts, vulva and female habit develop normally. However, primary sterility is present.

It is not uncommon for MRKH syndrome to be accompanied by malformations within the urinary system. This can be renal agenesis, double ureters, or horseshoe kidneys. Renal agenesis is understood by physicians as the lack of development in one kidney or even in both kidneys, while in the case of a horseshoe kidney, the lower poles of both kidneys fuse together.

Approximately 10 to 20 percent of all patients also suffer from anomalies in their skeleton. Other possible symptoms of MRKH syndrome are hernias, protruding ovaries and conductive hearing loss. Hernias can occur in childhood.

Diagnosis & disease progression

The diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome is based on various examinations. First, the treating doctor looks at the medical history of the patient, then he carries out a physical examination, during which he carries out a precise scan of the body. Valuable information is also provided by sonography ( ultrasound examination ).

Since there is a risk of accompanying malformations, orthopedic and urological examinations are usually also carried out. A differential diagnosis of pseudohermaphroditism masculinus (androgyny) is also important.

Without treatment, vaginal sexual intercourse is not possible for the affected women, despite their normal appearance. This often puts them under great psychological pressure. However, the affected person can obtain a neovagina with the help of plastic surgery.

Complications

If a woman has Mayer-Rokitansky-Küster-Hauser Syndrome, she cannot have sexual intercourse. As a rule, this syndrome does not represent any particular health impairment, so that there is usually no reduced life expectancy. Those affected do not have a menstrual period. The almost non-existent sex life can lead to complications with one’s own partner, which can lead to psychological problems.

It is not uncommon for those affected to suffer from inferiority complexes or feelings of shame due to the Mayer-Rokitansky-Küster-Hauser syndrome. This often leads to social exclusion or depression. Likewise, the patients are sterile and cannot have children, which can also have a very negative effect on the psyche. In many cases, Mayer-Rokitansky-Küster-Hauser syndrome is associated with various other malformations, which can lead to kidney problems.

The skeleton itself can also be affected by abnormalities that can limit everyday life. Mayer-Rokitansky-Küster-Hauser syndrome can be treated so that the person concerned can participate in sexual intercourse again. Complications do not occur and the symptoms can usually be completely combated. Life expectancy is also not reduced by this syndrome.

When should you go to the doctor?

Normally, the disease is diagnosed shortly after birth. Since the team of assistants, consisting of nurses and doctors, automatically carries out the first examinations of the baby during an inpatient birth, the irregularities in these tests and controls are noticeable.

If the birth takes place in a birth center or at home, midwives take on this task and initiate all further steps for a detailed examination. In these cases, the parents do not have to take any action as they are surrounded by trained staff. In the case of a spontaneous birth without the presence of medically trained staff, a doctor should be consulted immediately after the birth.

If, for various reasons, a diagnosis is not made in infancy, there are further indications over the course of life that must be followed up. If there is no menstrual bleeding in the further development process of the girl, this is a sign of an existing disease. A doctor’s visit is required to determine the cause. If there are abnormalities in the skeletal system or an increase in hernias, a doctor is needed. An existing hearing loss is also a symptom of the Mayer-Rokitansky-Küster-Hauser syndrome and should be medically clarified.

Treatment & Therapy

Both conservative and surgical therapy options are possible for the treatment of Mayer-Rokitansky-Küster-Hauser syndrome. One of the conservative treatments is the so-called stretching according to Frank. In this procedure, the vagina is stretched using a dilator. However, the method is considered to be very painful, so that the patient must have a corresponding level of willingness.

Various surgical therapies are also available. These include the neovagina according to Vecchietti, the peritoneal sheath, the intestinal sheath and the epidermal sheath according to McIndoe. The neovagina operation according to Vecchietti is one of the minimally invasive procedures. During this procedure, the surgeon inserts a so-called phantom into the vaginal dimple.

He then attaches two threads to this phantom with a laparoscope. He guides them through the abdominal wall to a tensioning device. This apparatus stays in place on the stomach for four to six weeks. The vagina is stretched in the direction of the abdominal cavity by the tension device and thus lengthened by ten to twelve centimetres.

Dilators are used to stretch the vagina further. In most cases it is possible for the patient to have a normal sex life again. The neovagina reacts like a conventional vagina and expands during sexual intercourse.

Outlook & Forecast

Treatment for the condition called Mayer-Rokitansky-Küster-Hauser syndrome only affects women. The syndrome can be treated surgically or conservatively. All previously known methods are painful and uncomfortable for those affected. They are also potentially risky as injuries can occur in the intimate area. However, without these interventions, the prognosis for a normal sex life is poor.

Surgical procedures used to correct Mayer-Rokitansky-Küster-Hauser syndrome include McIndoe’s epidermal sheaths, intestinal sheaths, peritoneal sheaths, and Vecchietti neovagina. In three of these surgical procedures, however, it is necessary for those affected to wear a so-called phantom postoperatively. This should prevent shrinkage of the operated vagina.

In the past decades, a new surgical method for Mayer-Rokitansky-Küster-Hauser syndrome has been developed. In 2006, four women with Mayer-Rokitansky-Küster-Hauser syndrome had new vaginas implanted. This had previously been grown in the laboratory from your own genital tissue cells. The medical journal “The Lancet” first reported on the success of the operation in 2014.

This new surgical method gives hope that the prospect of a normal life can be better realized in the future. However, creating your own skin cell cultures is a very complex and expensive procedure. Nevertheless, the new surgical method leaves open the possibility that the prognosis for women with Mayer-Rokitansky-Küster-Hauser syndrome can be improved even further in the future.

Prevention

There are no preventive measures against Mayer-Rokitansky-Küster-Hauser syndrome. So the exact causes of the congenital malformation could not be fathomed.

Aftercare

Since Mayer-Rokitansky-Küster-Hauser syndrome is a congenital disease, it cannot usually be completely treated by a doctor. The affected person is dependent on a quick and, above all, early diagnosis and recognition of the disease so that further complications can be prevented. Many patients suffer from inferiority complexes or significantly reduced self-esteem as a result of the disease. Sometimes it can help to clarify this professionally with a psychologist and initiate therapy. The goal of follow-up is to accept the situation and promote better management of the disease. A positive attitude contributes to the recovery process. However, the further course depends very much on the time of diagnosis,

You can do that yourself

As a rule, it is not possible to treat the Mayer-Rokitansky-Küster-Hauser syndrome by means of self-help. The conservative treatment by stretching the vagina is associated with very severe pain and is carried out by a doctor.

However, the Mayer-Rokitansky-Küster-Hauser syndrome can be treated relatively well with surgery, so that the patient is no longer restricted in her sex life. The procedure is carried out without major risks and complications and can permanently relieve the symptoms. After that, it is possible for the patient to have sexual intercourse again.

Since the Mayer-Rokitansky-Küster-Hauser syndrome often leads to psychological problems or depression, these should be reduced by talking to people you know or with the family. Contact with other sufferers can often have a positive effect on the course of the disease and reduce mental suffering. Further treatment or therapy of the Mayer-Rokitansky-Küster-Hauser syndrome is not necessary if it is treated by surgery.

Mayer-Rokitansky-Kuester-Hauser Syndrome