Mayer-Rokitansky-Kuester-Hauser Syndrome: Causes, Symptoms & Treatment

Mayer-Rokitansky-Küster-Hauser syndrome is a congenital malformation that occurs exclusively in women. In this case, the patients do not have a vagina, so they cannot have sexual intercourse.

What is Mayer-Rokitansky-Küster-Hauser syndrome?

Mayer-Rokitansky-Küster-Hauser syndrome is also known as MRKH syndrome or Küster-Hauser syndrome. It refers to a genital malformation in women who do not have a vagina. Without treatment, vaginal intercourse is not possible for them. However, through modern medical methods, there is an option of a functional neovagina. Not affected by MRKH syndrome is ovarian function, which allows secondary sexual characteristics to develop normally. Data on the frequency of Mayer-Rokitansky-Küster-Hauser syndrome vary, ranging from 1:10,000 to 1:4500. In medicine, 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-Küster-Hauser syndrome. In isolated MRKH type 1, there is a congenital absence of the vagina and uterus. MRKH type II is referred to when other malformations are present. The atypical Mayer-Rokitansky-Küster-Hauser syndrome is inherited in an autosomal dominant manner. This involves mutations at the WNT4 gene on chromosome 1.

Causes

The exact causes of Mayer-Rokitansky-Küster-Hauser syndrome are unknown. It is thought that there is a chromosomal abnormality that results in a malformation of the Müllerian ducts. Due to this inhibition malformation, the canalization of the genital cord fails to occur in the second embryonic month. This in turn causes genetic underdevelopment (hypoplasia) or complete non-formation (aplasia) of the vagina and uterus. MRKH syndrome is seen only in the female sex. Affected women do not have a vagina and therefore cannot have vaginal intercourse. Nevertheless, their appearance is normally female. Thus, they have a normal libido and possess the ability to have an orgasm. Because the uterus is also rudimentary or even non-existent, affected women are unable to give birth to children. The ovaries, on the other hand, are not affected by MRKH syndrome. Although it is possible for Mayer-Rokitansky-Küster-Hauser syndrome to occur in isolation, it is more often seen in association with malformations of the kidneys and vertebrae. In some cases, patients also suffer from defects of the hearing as well as the heart.

Symptoms, complaints, and signs

Mayer-Rokitansky-Küster-Hauser syndrome usually does not become noticeable until puberty. Until that time, there are usually few symptoms. The first sign of MRKH syndrome is primary amenorrhea, which is the absence of monthly menstruation. Primary amenorrhea is when menstruation has not yet occurred. In addition, those affected suffer from problems during sexual intercourse. This is hardly possible for them. Due to the functioning of the ovaries, the breasts, vulva and female appearance are normal. However, primary sterility is present. Not infrequently, MRKH syndrome is accompanied by malformations within the urinary tract system. These may be renal agenesis, double ureters or horseshoe kidneys. A renal agenesis is the absence of development in one or both kidneys, whereas in a horseshoe kidney, the lower renal poles of both kidneys fuse together. Approximately 10 to 20 percent of all female patients also suffer from abnormalities in their skeleton. Other possible symptoms of MRKH syndrome include hernias, protruding ovaries, and conductive hearing loss. Hernias may occur in childhood.

Diagnosis and course of the disease

Mayer-Rokitansky-Küster-Hauser syndrome is diagnosed through a variety of tests. First, the attending physician deals with the patient’s medical history, then he or she performs a physical examination in which he or she performs a precise palpation of the body. In addition, sonography (ultrasound examination) provides valuable information. Since there is a risk of accompanying malformations, orthopedic and urological examinations are also usually performed.A differential diagnosis to pseudohermaphroditism masculinus (androgyny) is also considered important. Without treatment, vaginal intercourse is not possible for the affected women despite their normal appearance. This often leads to strong psychological pressure for them. However, with the help of plastic surgery, the affected person can obtain a neovagina.

Complications

If a woman suffers from Mayer-Rokitansky-Küster-Hauser syndrome, she will not be able to have sexual intercourse. As a rule, this syndrome does not present any particular health impairment, so there is usually no decreased life expectancy. The affected person does not have a menstrual period. The almost non-existent sexual life can lead to complications with one’s partner, which can result in psychological discomfort. It is not uncommon for those affected to suffer from inferiority complexes or feelings of shame as a result of Mayer-Rokitansky-Küster-Hauser syndrome. It is also not uncommon for social exclusion or depression to occur. The patients are also sterile and unable to 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, so that kidney complaints may occur. The skeleton itself may also be affected by abnormalities that can limit daily life. Mayer-Rokitansky-Küster-Hauser syndrome can be treated so that the affected person can participate in sexual intercourse again. Complications do not occur and the symptoms can usually be completely controlled. Life expectancy is also not reduced by this syndrome.

When should you see a doctor?

Normally, the condition is diagnosed shortly after birth. Since in an inpatient birth the team of helpers, consisting of nurses and doctors, automatically perform the first examinations on the infant, the irregularities in these tests and checks are noticed. If a birth occurs in a birth center or a home birth, midwives take over this task and initiate all further steps for a detailed examination. In these cases, the parents do not need to take action, as they are surrounded by trained personnel. In the case of a spontaneous birth without the presence of medically trained staff, a doctor should be consulted immediately following the delivery. If a diagnosis is not made in infancy for a variety of reasons, there are other clues throughout life that must be followed up. If there is no menstruation in the further development process of the girl, this is a sign of an existing disease. A visit to the doctor is necessary so that the cause can be determined. If there are abnormalities of the skeletal system or increased hernias, a doctor is needed. Presenting hearing loss is also a symptom of Mayer-Rokitansky-Küster-Hauser syndrome and should be medically evaluated.

Treatment and therapy

Both conservative and surgical treatment options are available to treat Mayer-Rokitansky-Küster-Hauser syndrome. Conservative treatments include what is known as stretching according to Frank. In this procedure, the vagina is stretched by means of a dilator. However, the method is considered very painful, so the patient must have an appropriate level of willingness. In addition, 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. In this procedure, the surgeon inserts a so-called phantom into the vaginal dimple. He then attaches two sutures to this phantom using a laparoscope. He passes them through the abdominal wall to a tensioning apparatus. This apparatus remains in position on the abdomen for four to six weeks. The vagina is stretched by the tensioning apparatus in the direction of the abdominal cavity and in this way lengthened by ten to twelve centimeters. Dilators are used to further stretch the vagina. In most cases, it is possible for the patient to resume a normal sexual life. Thus, the neovagina reacts like a conventional vagina and dilates during sexual intercourse.

Outlook and prognosis

Treatment for the malformation called Mayer-Rokitansky-Küster-Hauser syndrome affects only women. The syndrome can be treated both surgically and conservatively. All known procedures to date 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 sexual life is poor. Surgical procedures used to correct Mayer-Rokitansky-Küster-Hauser syndrome include McIndoe’s epidermal sheaths, intestinal sheaths, peritoneal sheaths, and Vecchietti’s neovagina. In three of these surgical procedures, however, it is necessary for those affected to wear a so-called phantom postoperatively. This is to prevent shrinkage of the operated vagina. In recent 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 a new vagina implanted. This had previously been grown in the laboratory from their 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, the creation of the patient’s own skin cell cultures represents a very complex and costly procedure. Nevertheless, the new surgical method leaves open the possibility that the prognosis for women with Mayer-Rokitansky-Küster-Hauser syndrome may be further improved in the future.

Prevention

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

Follow-up

Because Mayer-Rokitansky-Küster-Hauser syndrome is a congenital disease, it usually cannot be fully treated by a physician. 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 female patients suffer from inferiority complexes or significantly lowered self-esteem as a result of the disease. Sometimes it can help to clarify this professionally with a psychologist and to initiate therapy. The goal of aftercare is to accept the situation and promote a better way of dealing with the disease. A positive attitude contributes to the recovery process. However, the further course of this depends very much on the time of diagnosis, so no general prediction can be made in this regard.

What you can do yourself

It is usually not possible to treat Mayer-Rokitansky-Küster-Hauser syndrome by means of self-help. Conservative treatment by stretching the vagina is associated with very severe pain and is performed by a doctor. However, Mayer-Rokitansky-Küster-Hauser syndrome can be treated relatively well by surgical intervention, so that the patient is no longer restricted in her sexual life. The procedure is performed without major risks and complications and can permanently relieve the symptoms. Afterwards, it is possible for the patient to have sexual intercourse again. Since Mayer-Rokitansky-Küster-Hauser syndrome often also leads to psychological complaints or depression, these should be reduced through discussions with familiar people or with the family. Frequently, contact with other affected persons can also have a positive effect on the course of the disease and reduce the psychological suffering. Further treatment or therapy for Mayer-Rokitansky-Küster-Hauser syndrome is not necessary if it is treated by surgery.