Aplasia of the uterus

Aplasia of the uterus is a pathology that is characterized by underdevelopment of the uterus or its abnormal shape due to the influence of exogenous and endogenous factors. The spread of this pathology is broader than it seems at first glance, so you need to know the main symptoms and manifestations of the disease. The risk of a girl's birth with such a pathology is very high, and infertility is one of the consequences, which proves the importance of this problem.

[1], [2], [3], [4]

Epidemiology

The epidemiology of this problem is characterized by the birth of one girl for uterine aplasia for five thousand healthy girls. This is very widespread, which emphasizes the need for prevention. More than 65% of cases of aplasia of the uterus are combined with congenital malformations of other organs, and aplasia of the uterus in 70% of cases is combined with aplasia of the vagina. Asymptomatic flow to a young age is observed in 89% of girls, which emphasizes the importance of preventive work.

[5], [6], [7], [8], [9], [10]

Causes of the aplasia of the uterus

The causes of the development of uterine aplasia are not often established 100%, most often even in individual cases it can not be done. This is due to the fact that they can be very much, and the definition of the exact cause is not a priority task, because the treatment does not depend on the etiologic factor. Most often this problem is congenital, and despite the fact that the manifestations can only be in the period of puberty, the disease begins even in the early years.

The cause of any congenital pathology is always difficult to establish, because the factor affects in utero. Given that the girl's reproductive system is pawned and develops in the first trimester of pregnancy, it is at this time that uterine aplasia can develop under certain conditions. Therefore, the main cause of aplasia of the uterus can be considered the influence of exogenous and endogenous factors on the female body in the first trimester of pregnancy. There are a lot of such factors.

The first group of causes that occur most often are infectious agents. If a woman in the first trimester has a viral or bacterial infection, then all this in the future can cause the formation of congenital malformations of the genital organs, including intrauterine aplasia of the uterus. Even a simple acute viral infection can affect the development of organs. Given pregnancy, most drugs are contraindicated or not recommended for admission during pregnancy, so more often a woman is treated with alternative drugs or herbs. This certainly has its effect, but the lack of adequate treatment can also be a risk factor for the effect of the virus on ontogeny. The pathogenesis of such changes is that the virus is able to penetrate the placenta and be included in the cell division mechanism, which is most active in the first trimester. In this case, the normal structure of the organ is broken, which in the future gives the problem of aplasia of the uterus. Particular attention should be paid to the infections that carry the greatest potential threat. These are the diseases that must first be diagnosed because of their harm to the future child. These infections include the so-called group TORCH. These are diseases that include toxoplasmosis, rubella, cytomegalovirus and herpes viruses, as well as some others. It is these diseases in most cases that are the cause of congenital malformations in the child, including congenital aplasia.

If a woman is more of a bacterial infection, antibacterial drugs that are not harmful to the fetus are recommended to be taken . Therefore, due to the availability of adequate treatment, a bacterial infection is considered less dangerous than a viral infection. In addition, viruses have a higher ability to induce mutagenesis, that is, alter the chromosomal set of cells and provoke congenital malformations.

Among the other group of causes that can cause uterine aplasia are still in utero, the mother's diseases are chronic or acute during pregnancy. Any disease disrupts the child's normal development. If a woman has chronic bronchitis or bronchial asthma, then the child does not get enough oxygen. If a woman has a congenital heart disease or hypertensive disease, it disrupts the ability of the heart to pump blood and also the circulatory failure in the placenta. That is, any disease carries a potential threat to the child, therefore at the stage of pregnancy planning all these factors must be taken into account. If it is a chronic infectious disease, it can also cause this condition. If there are primary foci of infection in the form of chronic adnexitis or pyelonephritis, this only enhances the effect of the etiological factors, which contribute to the development of violations of the lining of the internal organs of the child.

Also, one of the causes of uterine aplasia may be a severe hormonal insufficiency, which disrupts the formation of female genital organs. It can be for tumors or congenital anomalies of the pituitary and hypothalamus, adrenal or ovarian pathology.

Speaking of aplasia of the uterus as an acquired pathology, it is extremely rare. This term is more applied to congenital disorders in girls, but if there is a similar problem in adulthood because of exogenous causes, sometimes one can speak about aplasia of the uterus. The causes of development of aplasia are more often invasive. That is, aplasia develops after surgery, against the background of the removal of part of the uterus or operations on the vagina. As a result, the uterus is inferior and can not perform its function, so you can talk about acquired aplasia. Such serious and traumatic operations are performed in oncopathology.

[11], [12], [13], [14], [15], [16]

Risk factors

Given all the possible causes of congenital uterine aplasia, it is necessary to identify the main risk factors for aplasia on the part of the mother, which can lead to this, because the mother is responsible for the development of the girl while still pregnant. Such risk factors include:

1. women with chronic inflammatory infections of the genital tract and other sources of chronic infection;
2. diseases of a pregnant woman in the first trimester, especially viral infections;
3. women with frequent vaginitis, colpitis or chronic adnexitis - this is the basis for the action of other etiological factors;
4. women with disorders of the neurovegetative system - this is closely related to the hormonal regulation of the body's functions, as well as to local blood circulation (psychosomatic disorders), which directly affects the fetus and organogenesis.

Prevention of diseases of women, taking into account the correction of risk factors - the most reliable method to avoid aplasia of the uterus.

[17], [18], [19]

Symptoms of the aplasia of the uterus

Diseases are insidious in that the first signs appear already when a woman wants to have children or in the period of adolescence. The girl is born with normal sexual characteristics, if it is only about aplasia of the uterus without the congenital defects of other organs. It develops well, according to age, there are no abnormalities in growth, weight, or mental development. Further secondary sexual characteristics of the girl normally develop, as the general karyotype and the hormonal background are not violated. The first symptoms can appear when all sexual signs are already expressed, and menstruation does not occur. This can be one of the first manifestations that will lead to the thought of the pathology of development. Sometimes menstruation can begin and have a meager character. Then the first symptoms can appear only when a woman wants to become pregnant and can not. Infertility is one of the main symptoms of uterine aplasia, and this symptom is found in all women with this diagnosis.

If, until a certain time, the girl's menses has been, then the manifestation of the pathology can be a sharp cessation of it. In this case, the function of the ovaries does not suffer, and the whole matter lies in the anomaly of the structure of the uterus. In this case, not only the myometrium, but also the endometrium is underdeveloped, so normal regulation of the menstrual cycle does not take place.

Not so often, but there are cases when one of the symptoms of aplasia of the uterus is aching and drawing pain in the abdomen. Such pain is permanent, it does not give in to anesthesia and is poorly treated.

[20], [21], [22], [23]

Stages

Stages of aplasia of the uterus can be divided according to the severity of violations of the anatomical structure of the uterus. If the uterus is close to the size and shape of a normal uterus with a deviation of 1-2 cm, then this is the first stage of the disease. The second stage of the disease is characterized by a deviation in shape and size of more than 3 cm, and the third - this is a serious violation with the remnants of the rudimentary uterus. The stage of the disease can only be determined after a thorough examination.

[24],

Forms

Types of uterine aplasia depend on the involvement of other organs in the process. Most often, aplasia of the uterus is combined with aplasia of the vagina, which is manifested by a significant narrowing of the vagina. Aplasia of the cervix is a frequent pathology that accompanies the underdevelopment of the uterus itself, but the changes are more pronounced in the neck region, which casts doubt on the possibility of any normal pregnancy. Aplasia of the cervical canal with the functioning uterus is the most favorable option in terms of the possibility of normal pregnancy, which already depends on the degree of aplasia of the cervical canal.

Symptoms of aplasia of the uterus, which are expressed in all women - is the absence of menstruation and infertility, there are less pains in the lower abdomen, which is a characteristic triad of the disease.

[25], [26]

Complications and consequences

The consequence of aplasia of the uterus is almost always infertility, since there is almost no chance to endure a normal child when the anatomical structure of the uterus is broken. After all, even if the aplasia has a minimum degree of severity, then functionally such a uterus can not withstand the load. The myometrium is not of such a strong character and an increase in the size of the uterus may not be sufficient for this fetus. Other complications that occur with untimely diagnosis of uterine aplasia are the development of hematomas and hematocolpos. This is due to the fact that menstrual blood can not exit through the anatomically irregular uterus and accumulates there, forming as it were hematoma. Further, it may threaten serious bleeding.

Frequent infectious inflammation of the vagina and genital tract is a very common complication of uterine aplasia, as there are convenient conditions for the reproduction of microorganisms.

[27], [28]

Diagnostics of the aplasia of the uterus

Diagnosis of uterine aplasia should be timely for normal correction of the condition, because every woman must fulfill her reproductive function. It is very important not only to establish a diagnosis, but also to determine the stage and extent of changes in other genital organs.

The first stage of diagnosis is the collection of anamnesis. It is necessary to find out when the menstruation began and what the cycle was. Often in girls with aplasia of the vagina, menstruation started very late, or there are none at all, although they should be in time. This point should lead to the idea of a more serious examination.

The next stage of diagnosis is inspection. With vaginal examination, you can determine that there are changes in the cervix or vagina, and you can see changes in the external throat of the cervical canal. The cervix can be deformed, the vagina is narrowed or its size does not allow any examination. In bimanual examination and palpation, the uterus can sometimes not be reached or its small size can be determined.

Analyzes should be taken to exclude infection of the genital tract at the time of treatment. In addition to general tests, it is important to carry out hormonal screening. It is important to establish the condition of the ovaries and determine exactly the diagnosis. After all, there are pathologies, the symptoms of which are similar to aplasia. With aplasia of the uterus, the hormonal background is not broken, all the hormones are normal. The only changes can be at the pituitary level, which is characterized by a violation of the secretion of follicle-stimulating and luteinizing hormones. Then you can think about the fact that aplasia could cause such a pituitary deficiency even in utero. Smears on the bacterial flora and the degree of purity of the vagina are also an obligatory method of investigation, since they exclude bacterial inflammation or a specific infectious process. This is important before any treatment is prescribed.

Instrumental diagnosis is considered an accurate method for determining aplasia and the presence of concomitant diseases. The most informative method is ultrasound. This method can determine the size of the uterus, its location, shape, condition of the vagina and its patency. It also determines the state of the endometrium, its thickness and the possibility of desquamation. Ovaries with uterine aplasia are not changed, their function is not broken, so ovulation is normal.

Sometimes for more diagnostic it is necessary to conduct more informative methods - then use MRI or CT. These methods allow you to examine the genitals with an accurate measurement of the size and thickness of the organ.

Consultation of the endocrinologist and genetics is mandatory if it is a question of aplasia of the uterus in combination with other pathologies. Then, for the purpose of differential diagnosis, a karyotype of the girl is determined and a hormonal examination is performed.

[29], [30], [31]

Differential diagnosis

Differential diagnosis should be carried out very carefully, because there are a number of pathologies that have many of the same symptoms, and the treatment tactics are different. First of all, if the symptom of the absence of menstruation comes to the fore, then it is necessary to differentiate the uterine aplasia with a delay in sexual development. In this case, along with this symptom, there will be a delay in the development of secondary sexual characteristics in the girl, and with simple aplasia, all secondary symptoms do not suffer. The delay of menstruation and infertility can also be with Stein-Levental syndrome. This pathology, which is characterized by a change in the ovaries and their sclerosis, which violates the hormonal background with a lack of female sex hormones. Women with this syndrome have an excessive body weight and signs of virilization. On ultrasound, the ovaries will have significant cysts. With a simple aplasia, the ovaries do not suffer, so the girl's hormonal background is normal and there are no external changes.

On examination, differential diagnosis should be performed with a combination of aplasia of the uterus and other defects.

Careful diagnosis of uterine aplasia is very important, because the tactics of treatment may differ depending on the age and stage of the disease.

Treatment of the aplasia of the uterus

The treatment of uterine aplasia should be discussed as soon as a diagnosis is established. If the diagnosis is established for the girl, surgical treatment can not always be used in the early stages. Often due to a violation of the shape of the uterus or its partial aplasia, there may be a delay in menstrual blood in the uterus or vagina. Then it is necessary to evacuate blood to avoid hematomas. If the endometrium is preserved, then before any surgical intervention it is necessary to conduct conservative therapy aimed at suppressing menstrual function. To do this, use drugs from different groups from oral contraceptives to antagonists of ovarian hormones and the hypothalamic-pituitary system.

1. Ganirelix is a drug that has an antigonadotropic effect. The mechanism of action of the drug is that the active substance of the drug is a peptide, which is similar to the natural female rhizome-releasing hormone, which releases the gonadotropic hormone. At the same time, a certain amount of it is released, and several months later, during the course of treatment, there is a natural depletion of hormones, so the amount of gonadotropin decreases. Therefore, the amount of estrogen gradually decreases - this allows you to reduce menstrual function or even stop it altogether. The drug is available in vials and the way it is used subcutaneously. For the full effect of treatment it is necessary to follow the course. The dosage of the drug is determined individually based on the level of estriol, but most often treatment is carried out from the first day of the cycle and for five days, the course is three to six months. Precautions - can not be used in conjunction with gonadotropic drugs, as this can cause ovarian hyperstimulation at the initial stage of treatment and their atresia. Side effects occur most often in the form of hot flushes, dry skin, itching, distant osteoporosis, as well as abdominal pain and dyspepsia.
2. Triptorelin is an antiestrogenic drug from the group of agonists of gonadotropic factors. The mechanism of action of the drug is to competitively bind to the receptors of the hypothalamus and the synthesis of the releasing hormone, which first causes an increase, and then a blockade in the production of gonadotropic hormones of the pituitary gland. This may stop menstrual function in girls with uterine aplasia. The form of the product is injectable. Dosage of the drug to treat the complete blockade of the menstrual cycle is determined in conjunction with hormonal screening. The course of treatment is from four to six months. Precautions - In the presence of stones in the kidneys or gallbladder should be used with caution. Side effects can be in the form of allergic reactions, as well as the initial engorgement of the mammary glands, secretions from the uterus in a small amount.
3. Danodiol  is a drug that acts by reducing the amount of estrogens, which prevents ovulation and further hyperproliferation of the endometrium. Use the drug to quickly stop menstrual function and reduce pain before surgery. The method of administration is oral. Dosage - 400 -800 milligrams per day, it is better to divide into 2 or 4 admission. Precautions - if liver function is impaired or hepatitis is present, it is best not to apply the drug, but also to dose the drug, starting with a minimum dose of 200 milligrams per day. Side effects are possible in the form of an increase in body weight, the appearance of edema, as well as allergic and diarrheal phenomena.

Surgical treatment of uterine aplasia can have a different amount of intervention. If the woman has pains in the lower abdomen and there is a third degree of aplasia, then one can resort to the operation of a hysterectomy, because there is no hope for a normal pregnancy. In this case, you can completely save the vagina, if it is not changed, and maintain the sexual function.

Among other surgical methods of treatment, there are many techniques for the plasty of the walls of the uterus and the vagina - colpalonation, colpopoiesis and others. It is important whether there are changes in the cervical channel. If it is a simple narrowing or atresia of the cervical canal, then with the help of alternative methods of fertilization pregnancy is possible. In this case, the main goal of surgical treatment is the restoration of the normal structure of the uterus and the ways for the development of the fetus. In all other cases, the goal of surgical treatment is the resumption of a normal sexual life.

Colpelongation is an operative treatment for uterine aplasia, which is characterized by the formation of a narrowed or rudimentary uterine remains. With the help of enlarging the lumen, you can achieve normal dimensions for sexual life. Such treatment is carried out in several sessions and requires re-correction after a while.

Colpopoiesis is an operative intervention with the formation of a new vagina from neighboring tissues. The basis is often used sigmoid colon or peritoneum. For this purpose, an operation is performed in which the bowel is turned and stitched with a neck. This vagina is well-blooded, but regular sex life is necessary, since the mucosa is not adapted to the influence of external factors.

These are the main methods of operative correction of uterine aplasia, which allow to improve the quality of life of the patient with this pathology.

Prevention

Prevention of the development of aplasia is nonspecific, and since this is mainly an innate pathology, all measures apply to the mother during pregnancy if she is carrying a girl. It is necessary to avoid contact with patients and to avoid infectious lesions in the first trimester of pregnancy. In the presence of chronic foci of infection need to be treated at the planning stage of pregnancy. It is necessary to use all measures to avoid the influence of harmful factors on the body of a pregnant woman. As for prevention of complications, somewhere in the age of three to four years it is recommended to show each girl to a children's gynecologist. During this period, uterine aplasia can be diagnosed and treated with other approaches, which can restore the sexual function completely to the maturity period.

[32], [33], [34], [35], [36], [37]

Forecast

The prognosis for uterine aplasia for normal pregnancy is not favorable, except for isolated aplasia or cervical canal agenesis. For complete recovery, the forecast is also unfavorable, only the restoration of sexual life is possible.

Aplasia of the uterus is a pathology, which today is very common and is one of the causes of infertility. More often it is a congenital pathology, which is hard to correct. But despite this, a woman can receive symptomatic treatment and live a sexual life without any problems. Do not fall into despair, because there is always treatment for even complex diseases.

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