Surrogate motherhood allows you to have children for those women who, due to health reasons, cannot independently conceive a child. Their number, according to statistics, is increasing year by year. One of the reasons for accessing the services of a surrogate mother is Rokytansky-Kustner syndrome. The causes of the disease, symptoms and basic methods of treatment will be discussed in this article. You will also find out if a woman with this syndrome can have children.
Pathology characteristic
Rokytansky-Kustner-Mayer-Hauser syndrome is a rare gynecological disease. In his name are the names of scientists who provided a detailed description of the pathology. Also in the medical literature there are synonyms of the disease: vaginal atresia, uterine aplasia. However, they do not reflect all the disorders in the body that are characteristic of the syndrome. In addition, vaginal atresia can occur due to inflammatory processes or surgery. Often the full name of the disease is reduced to the first two names of scientists or the term “MPKH syndrome”.
Pathology is characterized by a 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 (female type hair, chest) also persist. Rokytansky-Kustner syndrome is extremely rarely diagnosed (one case in 5 thousand newborn girls).
History reference
The first descriptions of the disease date back to 1829. The German doctor Karl Mayer noted that vaginal aplasia is often accompanied by various developmental abnormalities. A little later, in 1838, a pathologist from Austria Karl von Rokitansky supplemented the description of the syndrome. He determined that with this pathology, the uterus is also absent, but the ovaries retain the ability to function fully. In 1910, the German physician Hermann Küstner summarized the available information about the disease, supplementing it with his own observations. The gynecologist described examples of the frequent combination of uterine aplasia with kidney malformations. In 1961, a professor from Switzerland, Georges Hauser, proposed the term "Rockytansky-Kustner-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 introduced descriptions of an atypical variant of pathology. Given the great contribution of scientists, this syndrome was named after four surnames of the discoverers.
Causes of the disease
Even in the embryonic period , the anatomical defects that characterize the Rokytansky-Kustner syndrome are laid in the fetus. Photos of babies with such a diagnosis after birth are no different from those with their healthy peers. According to Müller's theory, in the fetus the genitals develop during the entire second month after conception. The impact of negative factors on the pregnant woman at this time can provoke various pathologies in the child. The syndrome also affects dysplasia of the connective tissue of the fetus, in which there is a violation of its structure. Pathological changes lead to an inferior development of organs, one of the manifestations of which is Rokytansky-Kustner syndrome.
What factors influence the occurrence of the disease in the baby during pregnancy?
- Severe toxicosis.
- HIV in the mother.
- Danger of abortion.
- Taking certain medications (such as corticosteroids).
- Alcohol abuse.
The syndrome does not belong to the category of hereditary diseases. However, in medical practice there are cases when the pathology was diagnosed in several women of the same family.
Clinical manifestations of the disease
Rokytansky-Kustner syndrome begins to manifest itself in the puberty, when puberty occurs. In girls, the breast is gradually rounded, the figure changes, and hair growth appears in intimate zones. Pronounced secondary sexual characteristics do not allow suspecting health problems. Many girls feel periodic pain in the lower abdomen, heaviness in the lower back. However, the absence of menstruation forces you to seek help from a gynecologist. Another reason for visiting 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. A rudimentary uterus with abnormal fallopian tubes can serve as a manifestation of underdevelopment of organs. In about 40% of the fair sex, MPKH syndrome is combined with malformations of the urinary system.
Disease classification
Like many other abnormalities of embryonic development, Rokytansky-Kustner syndrome has various degrees of severity. The intensity of each of them is determined by the severity of intrauterine disorders. In total, there are three forms of this disease:
- Typical MRKH syndrome (64% of all cases). It is characterized by aplasia of the uterus, as well as the vagina.
- Atypical MPKH syndrome (24% among all cases). With this disease, the girls lack the uterus and vagina, and ovarian dysfunction is observed.
- MURCS association (12% among all cases). This is the most severe form of the syndrome, which is characterized by the above disorders and is complemented by abnormal skeletal development.
The form of the disease determines the therapeutic tactics, and also helps doctors make a prognosis for recovery.
Diagnostic Methods
What examination is necessary to confirm the Rockytansky-Kustner syndrome? Symptoms of pathology are not the only criterion for making a diagnosis. 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, an examination is performed on a gynecological chair. In girls with hymen, diagnosis is carried out by sensing. The syndrome is characterized by a short vagina (up to 2 cm), which does not end with the cervical canal. Another diagnostic option is a rectal examination, during which the doctor probes the fallopian tubes and the uterine cavity. This method allows you to assess the degree of organ formation.
Regular measurement of basal temperature helps determine the phases of the menstrual cycle to confirm the full functioning of the ovaries. Additionally, the doctor prescribes blood tests for hormones, MRI and pelvic ultrasound. In especially serious cases, laparoscopic diagnosis may be required.
Treatment methods
There is only one way to cure Rokytansky-Kustner syndrome - intimate plastic. The operation to form the vagina is called colpopoiesis. Doctors began to resort to it from the 19th century. Initially, the operation was used to treat women with preserved uterine functions. In such patients, blood did not leave the body, but gradually accumulated in the abdominal cavity. As a result, they were diagnosed with tumor processes, which were accompanied by severe pain and various complications.
Currently, colpopoiesis is possible in two ways:
- Vaginal expansion with inflatable balloons. The operation takes a lot of time. Its implementation is possible only if the length of the vagina is at least 4 cm.
- The formation of a neovagina from a part of the sigmoid colon or membrane of the abdominal cavity. Modern technologies make it possible to correct defects without cavity cuts - laparoscopically. Doctors most often prefer this method of artificial formation of the vagina.
The ideal age for colposis is the period from 16 to 21 years. This is the time of the final ripening of the body. The only goal of vaginal plastic surgery is to provide a woman with the opportunity to lead a full intimate life. To prevent its overgrowing, one should not refuse regular sexual contacts, periodically undergo bougienage procedures.
Complications after surgery
What complications after surgery can patients with a diagnosis of Rokytansky-Kustner syndrome encounter? The treatment of any disease is sometimes accompanied by negative consequences. Colpopoiesis is a serious operation. As with any other type of surgical intervention, the development of complications is not excluded. Among them, the most common are sepsis and peritonitis. Also, in many patients, after a course of treatment, doctors diagnose fusion of the walls of the neovagina. This pathology develops due to the lack of a regular intimate life. Therefore, doctors strongly recommend that women do not neglect sexual contacts.
The prognosis after recovery
Changes in the body that occur in women with a diagnosis of Rokytansky-Küstner syndrome do not allow the reproductive function to be carried out naturally. However, modern methods of IVF and surrogacy help these patients to have biological children. Recently, scientists announced the positive results of donor uterus transplant operations. After some time, perhaps transplantation of this organ will help women with this insidious disease to bear children on their own.
Infertility and Rokytansky-Kustner-Mayer Syndrome
Can I have children with this disease? This question arises in many women who are faced with pathology. Sooner or later, each of them wants to try on the role of a mother. Most women with this syndrome cannot bear a child. If the ovaries function normally, specialists suggest that such patients resort to the help of a surrogate mother. How in this case is the conception of a baby?
At the first stage of the surrogate mother's program and a sick woman, hormonal drugs are prescribed. The use of medicines for a certain period allows you to synchronize their menstrual cycles. Then, the eggs of a woman with MPKH syndrome are artificially fertilized with her husband's sperm. For several days they are "grown" in a nutrient medium, which in its properties imitates the fallopian tubes. Three days later, specialists begin pre-implantation preparation: they determine the sex of the embryo, the presence of chromosomal defects and hereditary diseases. On the fifth day, the embryo is transferred to the uterus of the surrogate mother. In some cases, double sitting 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 the woman, unused eggs undergo a cryopreservation procedure. As a result of such a conception, a healthy baby appears after 9 months. However, this procedure has both supporters and opponents.
Separately, the issue of surrogacy should be considered. In many specialized clinics, there are so-called databases of women who are ready to provide such a service. Usually these are young healthy girls. One of the reasons for going to such a clinic is the Rokytansky-Kustner-Mayer-Hauser syndrome. Photos of future surrogate mothers can also be viewed in this database. The entire process, starting with the selection of a potential biomama and ending with the course of pregnancy, is controlled by the curators of the center. Therefore, it is better to turn to specialists than to do the searches yourself. Only in this case, you can remain confident in the health of the future baby.
To summarize
Rokytansky-Kustner-Mayer syndrome is a genetic disease characterized by the absence or underdevelopment of the uterus and vagina. Many girls before puberty are not even aware of health problems. The absence of menstruation forces them to turn to a gynecologist. It is at a specialist appointment 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 treatment options for pathology. All of them are constantly being improved and supplemented. Therapy of the disease is to eliminate the defect through intimate plastic. 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 here.