What is it - the Rokytansky-Kyustner syndrome? Rokitansky-Kyustner syndrome: causes, symptoms, treatment

Surrogate motherhood allows to have children for those women who, for reasons of health, can not conceive of their own child. Their number, according to statistics, increases year by year. One of the reasons for turning to the services of a surrogate mother is Rokitansky-Kyustner syndrome. The causes of the disease, the symptoms and the main methods of treatment will be discussed in this article. Also, you will find out if a woman with this syndrome can have children.

Characteristics of pathology

The Rokytansky-Kyustner-Mayer-Hauser syndrome is a rare gynecological disease. His name contains the names of scientists who provided a detailed description of the pathology. Also in the medical literature there are synonyms of the disease: atresia of the vagina, aplasia of the uterus. However, they do not reflect all disorders in the body that are characteristic of the syndrome. In addition, atresia of the vagina can occur due to inflammation or surgery. Often the full name of the disease is reduced to the first two names of scientists or the term "MRKH syndrome".

Pathology is characterized by complete or partial absence of the uterus, as well as 2/3 of the vagina. In this case, the full development of the ovaries and genitals is observed. Secondary sexual characteristics are also preserved (female-type haemorrhage, breast). The Rokytansky-Kyustner syndrome is diagnosed very rarely (one case per 5,000 newborn girls).

Historical reference

The first descriptions of the disease date back to 1829. German doctor Karl Mayer noticed that aplasia of the vagina is often accompanied by various developmental anomalies. A little later, in 1838, the pathologist from Austria Karl von Rokytansky supplemented the description of the syndrome. He determined that this pathology also lacks the uterus, but the ovaries retain their ability to function fully. In 1910 the German doctor Hermann Kyustner summarized the available information about the disease, supplementing it with his own observations. Gynecologist described examples of frequent combination of uterine aplasia with malformations of the kidneys. In 1961, a professor from Switzerland, Georges Hauser, proposed the term "Rokitanskii-Kyustner-Mayer syndrome". The scientist published his numerous observations of patients with this diagnosis, where he drew attention to insensitivity to male hormones among patients. In 1977, Hauser first presented descriptions of an atypical variant of pathology. Considering the great contribution of scientists, this syndrome was named for the four surnames of the discoverers.

Causes of the disease

Even in the embryonic period , the fetus has anatomical defects that characterize the Rokitansky-Kyustner syndrome. Photos of babies with such a diagnosis after birth are not different from those with their healthy peers. According to Mueller's theory, in the fetus the genitals develop during the entire second month after conception. The effect of negative factors on the body of a pregnant woman at this time can provoke various pathologies in the child. The appearance of the syndrome is also affected by dysplasia of the fetal connective tissue , in which the structure of the fetus disrupts. Pathological changes lead to inferior development of organs, one of the manifestations of which is the Rokytansky-Kyustner syndrome.

What factors influence the occurrence of the disease in a child during pregnancy?

1. Severe toxicosis.
2. HIV in the mother.
3. Danger of termination of pregnancy.
4. Acceptance of certain medications (eg, corticosteroids).
5. Alcohol abuse.

The syndrome does not belong to the category of hereditary diseases. However, in medical practice, cases are known where pathology has been diagnosed in several women of the same family.

Clinical manifestations of the disease

The syndrome of Rokytansky-Kyustner begins to manifest itself in the puberty period, when the sexual maturation of the body occurs. The girls gradually rounded the chest, the figure changes, hair appears in the intimate zones. Expressed secondary sexual characteristics do not allow to suspect health problems. Many girls feel periodic pain in the lower abdomen, heaviness in the lower back. However, the absence of menstruation makes you seek help from a gynecologist. Another reason for the visit to a specialist may be problems of an intimate nature. Unsuccessful attempts at sexual intercourse often result in trauma to the perineum or rupture of the bladder. The manifestation of underdevelopment of organs can serve as a rudimentary uterus with abnormal fallopian tubes. Approximately 40% of the representatives of the fair sex syndrome MRKH is combined with defects of the urinary system.

Classification of the disease

Like many other abnormalities of embryonic development, the Rokytansky-Kyustner syndrome has varying degrees of severity. The intensity of each of them is determined by the severity of intrauterine disorders. There are three forms of this disease:

1. A typical MRKH syndrome (64% of all cases). It is characterized by aplasia of the uterus, as well as the vagina.
2. Atypical MRKH syndrome (24% of all cases). In this disease, the girls have no uterus and vagina, dysfunction of the ovaries is observed.
3. MURCS Association (12% of all cases). This is the most severe form of the syndrome, which is characterized by the above disorders and is supplemented by abnormal development of the skeleton.

The form of the disease determines the therapeutic tactics, and also helps doctors make a prognosis for recovery.

Methods of diagnosis

What kind of examination is needed to confirm the Rokytansky-Kyustner syndrome? Symptoms of pathology are not the only criteria for diagnosing. The examination of the patient begins with an external examination. In 75% of cases, it does not allow to identify any violations, because the secondary signs correspond to the norms. Then it is examined on the gynecological chair. In girls with hymen, the diagnosis is carried out by sounding. The syndrome is characterized by a short vagina (up to 2 cm), which does not end with the cervical canal. Another option for diagnosis is rectal examination, during which the doctor probes the fallopian tubes and the uterine cavity. This method allows you to assess the degree of formation of organs.

Regular measurement of basal temperature helps to determine the phases of the menstrual cycle to confirm the full operation of the ovaries. In addition, the doctor prescribes blood tests for hormones, MRI and ultrasound of the pelvis. In particularly serious cases, laparoscopic diagnosis may be required.

Methods of treatment

There is only one way to cure Rokytansky-Kyustner syndrome - intimate plastic. The operation for the formation of the vagina is called colpopoiesis. To her help doctors began to resort from the XIX century. Initially, the operation was used to treat women with preserved functions of the uterus. In such patients, the blood did not leave the body, but gradually accumulated in the abdominal cavity. As a result, they diagnosed tumor processes, which were accompanied by severe pain and various complications.

Currently, there are two ways to carry out kolpopoiesis:

1. Expansion of the vagina with inflatable balloons. The operation takes a long time. It can only be carried out if the length of the vagina is at least 4 cm.
2. Formation of neovagina from part of the sigmoid colon or abdominal cavity. Modern technologies allow to correct defects without cavitary incisions - laparoscopically. Doctors often prefer this method of artificial formation of the vagina.

The ideal age for kolpopoiesis is from 16 to 21 years. This is the time of the final ripening of the body. The only purpose of vaginal plastics is to allow a woman to have a full and intimate life. To prevent its infection, one should not abandon regular sexual contacts, periodically undergo bougie procedures.

Complications after surgery

With what complications after the operation can the patients with the diagnosis "Rokitansky-Kustner syndrome" come across? Treatment of any disease is sometimes accompanied by negative consequences. Colpopoiesis is a serious operation. As with any other form of surgical intervention, the development of complications is not ruled out. Among them, the most common are sepsis and peritonitis. Also in many patients after the course of treatment, doctors diagnose the fusion of the walls of the neovaginal. This pathology develops because of the lack of regular intimate life. Therefore, doctors strongly recommend that women do not neglect sexual intercourse.

Prognosis after recovery

Changes in the body that occur in women with a diagnosis of "Rokytanskogo-Kyustner syndrome", do not allow the reproductive function in a natural way. However, modern methods of IVF and surrogate motherhood help such patients to have biological children. Recently, scientists have announced positive results of operations for the transplantation of the donor's uterus. After a while, perhaps, transplantation of this organ will help women with this insidious disease to independently nurse children.

Infertility and the Rokytansky-Kyustner-Mayer syndrome

Is it possible to have children with this disease? Such a question arises in many women who have encountered pathology. Sooner or later, each of them wants to try on the role of the mother. Most women with this syndrome can not bear a child. If the ovaries function normally, specialists suggest that such patients should resort to the services of a surrogate mother. How in this case is the conception of the baby?

At the first stage of the surrogate mother's program and a sick woman, hormonal preparations are prescribed. The use of medicines for a certain period allows synchronizing their menstrual cycles. Then the eggs of a woman with MRKH syndrome are artificially fertilized with the husband's sperm. Within a few days they are "grown" in a nutrient medium, which by its properties mimics the fallopian tubes. Three days later, specialists begin preimplantation training: determine the sex of the embryo, the presence of chromosomal defects and hereditary diseases. On the fifth day the embryo born is transferred to the uterus of a surrogate mother. In some cases, double occupancy is required, for example, on the third and fifth days.

The number of transferred embryos may vary depending on the quality of the genetic material, the age of the patient. At the request of women, unused eggs are subjected to the procedure of cryopreservation. As a result of this conception, a healthy baby appears in 9 months. However, this procedure has both supporters and opponents.

Separately, we should consider the issue of surrogate motherhood. In many specialized clinics, there are so-called women's bases that are ready to provide such a service. Usually these are young healthy girls. One of the reasons for turning to such a clinic is the Rokitansky-Kyustner-Meyer-Hauser syndrome. Photos of future surrogate mothers can also be viewed in this database. The whole process, beginning with the selection of a potential biomass and ending with the course of pregnancy, is supervised by the curators of the center. Therefore, it is better to turn to specialists than to do the research yourself. Only in this case it is possible to remain confident in the health of the future baby.

Let's sum up the results

Rokitansky-Kyustner-Mayer syndrome is a genetic disease characterized by the absence or underdevelopment of the uterus and vagina. Many girls before the puberty period do not even suspect about health problems. The absence of menstruation makes them turn to a gynecologist. It is at a reception with a specialist that they first learn about the existence of such a syndrome. On the one hand, it is characterized by underdevelopment of the uterus and vagina, and on the other - the presence of secondary sexual characteristics. Today, there are several options for treating pathology. All of them are constantly being improved and supplemented. Therapy of the disease is reduced to the elimination of a defect through intimate plastics. As a result, the patient can get rid of psychological and physiological problems, enjoy life and even have children. As for the last point, the help of a surrogate mother is required.