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Uterine aplasia
Last reviewed: 04.07.2025

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Uterine aplasia is a pathology characterized by underdevelopment of the uterus or its abnormal shape due to the influence of exogenous and endogenous factors. The prevalence of this pathology is wider than it seems at first glance, so you need to know the main symptoms and manifestations of the disease. The risk of having a girl with such a pathology is very high, and infertility is one of the consequences, which proves the importance of this problem.
Epidemiology
The epidemiology of this problem is characterized by the birth of one girl per uterine aplasia per five thousand healthy girls. This is a very wide prevalence, which emphasizes the need for prevention. More than 65% of cases of uterine aplasia are combined with congenital defects of other organs, and uterine aplasia in 70% of cases is combined with vaginal aplasia. Asymptomatic course until a young age is observed in 89% of girls, which emphasizes the importance of preventive work.
Causes uterine aplasia
The causes of uterine aplasia development are not often determined one hundred percent, and most often this cannot be done even in individual cases. This is due to the fact that there can be many of them, and determining the exact cause is not a priority task, because treatment does not depend on the etiological factor. Most often, this problem is congenital, and despite the fact that manifestations can only occur during puberty, the disease begins in early years.
The cause of any congenital pathology is always difficult to establish, since the factor affects even in utero. Considering that the girl's reproductive system is laid and developed in the first trimester of pregnancy, it is at this time that uterine aplasia can develop under certain conditions. Therefore, the main cause of uterine aplasia can be considered the influence of exogenous and endogenous factors on the female body in the first trimester of pregnancy. There can be many such factors.
The first group of causes, which are the most common, are infectious agents. If a woman suffers from a viral or bacterial infection in the first trimester, then all this can later cause the formation of congenital defects of the genital organs, including aplasia of the uterus in a girl in utero. Even a simple acute viral infection can affect the development of organs. Given the pregnancy, most drugs are contraindicated or not recommended for use during pregnancy, so more often a woman is treated with folk remedies or herbs. This certainly has its effect, but the lack of adequate treatment can also be a risk factor for the influence of the virus on ontogenesis. The pathogenesis of such changes is that the virus is able to penetrate the placenta and be included in the mechanism of cell division, which is most active in the first trimester. In this case, the normal structure of the organ is disrupted, which later gives the problem of aplasia of the uterus. Particular attention should be paid to infections that carry the greatest potential threat. These are the diseases that should be diagnosed first because of their harm to the unborn child. These infections include the so-called TORCH group. These are diseases that include toxoplasmosis, rubella, cytomegalovirus and herpes viruses, as well as some others. These diseases are the cause of congenital defects in children in most cases, including congenital aplasia.
If a woman has a bacterial infection, then it is recommended to take antibacterial drugs that are not harmful to the fetus. Therefore, due to the availability of adequate treatment, a bacterial infection is considered less dangerous than a viral one. In addition, viruses have a higher ability to induce mutagenesis, that is, to change the chromosome set of cells and provoke congenital defects.
Another group of causes that can cause uterine aplasia in utero include chronic or acute maternal diseases during pregnancy. Any disease disrupts the normal development of the child. If a woman has chronic bronchitis or bronchial asthma, the child does not receive enough oxygen. If a woman has a congenital heart defect or hypertension, this disrupts the heart's ability to pump blood and circulatory failure in the placenta also develops. That is, any disease poses a potential threat to the child, so all these factors must be taken into account already at the stage of pregnancy planning. If we are talking about chronic infectious diseases, this can also cause such a condition. If there are primary foci of infection in the form of chronic adnexitis or pyelonephritis, this only intensifies the effect of etiological factors that contribute to the development of disorders in the formation of the child's internal organs.
Also, one of the causes of uterine aplasia may be a sharp hormonal deficiency, which disrupts the formation of female genital organs. This may be due to tumors or congenital anomalies of the pituitary gland and hypothalamus, pathology of the adrenal glands or ovaries.
Speaking about aplasia of the uterus as an acquired pathology, it happens extremely rarely. This term is more often applied to congenital disorders in girls, but if there is a similar problem in adulthood due to exogenous causes, then sometimes we can talk about aplasia of the uterus. The causes of aplasia are often invasive. That is, aplasia develops after surgery, against the background of removal of part of the uterus or operations on the vagina. As a result, the uterus is defective and cannot perform its function, so we can talk about acquired aplasia. Such serious and traumatic operations are performed in oncopathology.
Risk factors
Considering all possible causes of congenital uterine aplasia, it is necessary to highlight 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:
- women suffering from chronic inflammatory infections of the genital tract and other sources of chronic infection;
- diseases of pregnant women in the first trimester, especially viral infections;
- women with frequent vaginitis, colpitis or chronic adnexitis - this is the basis for the action of other etiological factors;
- women with disorders of the neurovegetative system - this is closely related to the hormonal regulation of body functions, as well as local blood circulation (psychosomatic disorders), which directly affects the fetus and organogenesis.
Prevention of women's diseases, taking into account the correction of risk factors, is the most reliable method to avoid uterine aplasia.
Symptoms uterine aplasia
The disease is insidious in that the first signs appear when a woman wants to have children or during adolescence. A girl is born with normal sexual characteristics, if we are talking only about aplasia of the uterus without congenital defects of other organs. She develops well, according to her age, there are no deviations in height, weight or mental development. Then the secondary sexual characteristics of the girl develop normally, since the general karyotype and hormonal background are not disturbed. The first symptoms can appear when all sexual characteristics are already expressed, and menstruation does not occur. This can be one of the first manifestations that will lead to the idea of developmental pathology. Sometimes menstruation can begin and be scanty. Then the first symptoms can appear only when the woman wants to get pregnant and cannot. Infertility is one of the main symptoms of aplasia of the uterus, and this symptom occurs in all women with this diagnosis.
If a girl had menstruation up to a certain time, then a manifestation of pathology may be its abrupt cessation. In this case, the function of the ovaries does not suffer, and the whole problem lies in the anomaly of the structure of the uterus. In this case, not only the myometrium is underdeveloped, but also the endometrium, so normal regulation of the menstrual cycle does not occur.
Not so often, but there are cases when one of the symptoms of uterine aplasia is a nagging and pulling pain in the abdomen. Such pain is constant, it does not respond to pain relief and is difficult to treat.
Stages
The stages of uterine aplasia can be divided according to the severity of the anatomical structure of the uterus. If the uterus approaches the size and shape of a normal uterus with deviations of 1-2 cm, then this is the first stage of the disease. The second stage of the disease is characterized by deviations in shape and size of more than 3 cm, and the third is serious disorders with remnants of a rudimentary uterus. The stage of the disease can be determined only after a thorough examination.
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Forms
Types of uterine aplasia depend on the involvement of other organs in the process. Most often, uterine aplasia is combined with vaginal aplasia, which is manifested by a significant narrowing of the vagina. Cervical aplasia is a common pathology that accompanies underdevelopment of the uterus itself, but the changes are more pronounced in the cervix, which casts doubt on the possibility of any normal pregnancy. Cervical canal aplasia with a functioning uterus is the most favorable option in terms of the possibility of a normal pregnancy, which already depends on the degree of cervical canal aplasia.
Symptoms of uterine aplasia that are expressed in all women are the absence of menstruation and infertility, less often there is pain in the lower abdomen, which is a characteristic triad of this disease.
Complications and consequences
The consequence of uterine aplasia is almost always infertility, since the chances of bearing a normal child with a violation of the anatomical structure of the uterus are almost zero. After all, even if aplasia has a minimal degree of expression, then functionally such a uterus may not withstand the load. The myometrium is not so strong and the increase in the size of the uterus may not be enough for this fetus. Other complications that occur with untimely diagnosis of uterine aplasia are the development of hematometra and hematocolpos. This occurs because menstrual blood cannot exit through the anatomically incorrect uterus and accumulates there, forming a kind of hematoma. Further, this can threaten serious bleeding.
Frequent infectious inflammations of the vagina and genital tract are a very common complication of uterine aplasia, since there are favorable conditions for the reproduction of microorganisms.
Diagnostics uterine aplasia
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 degree of changes in other genital organs.
The first stage of diagnostics is collecting anamnesis. It is necessary to find out when menstruation began and what the cycle was like. Often, girls with vaginal aplasia have periods very late or do not have them at all, although they should be there by the time. This point should prompt the idea of a more serious examination.
The next stage of diagnostics is examination. During vaginal examination it is possible to determine that there are changes in the cervix or vagina, and also changes in the external os of the cervical canal can be seen. The cervix may be deformed, the vagina narrowed or its size does not allow examination at all. During bimanual examination and palpation it is sometimes impossible to reach the uterus or its small size can be determined.
Tests should be taken to exclude infection of the genital tract at the time of treatment. In addition to general tests, it is important to conduct hormonal screening. This is important to determine the condition of the ovaries and accurately determine the diagnosis. After all, there are pathologies whose symptoms are similar to aplasia. With aplasia of the uterus, the hormonal background is not disturbed, all hormones are normal. The only changes can be at the level of the pituitary gland, which is characterized by a violation of the secretion of follicle-stimulating and luteinizing hormones. Then we can think that aplasia could have been caused by such pituitary insufficiency in utero. Smears for bacterial flora and the degree of purity of the vagina are also a mandatory research method, since they allow you to exclude bacterial inflammation or a specific infectious process. This is important to do before prescribing any treatment.
Instrumental diagnostics is considered an accurate method for determining aplasia and the presence of concomitant diseases. The most informative method is ultrasound examination. This method can determine the size of the uterus, its location, shape, condition of the vagina and its patency. It also determines the condition of the endometrium, its thickness and the possibility of desquamation. The ovaries are not changed in uterine aplasia, their function is not impaired, so ovulation occurs normally.
Sometimes, for additional diagnostics, it is necessary to conduct more informative methods - then MRI or CT are used. These methods allow examining the genitals with precise measurement of the size and thickness of the organ.
Consultation with an endocrinologist and geneticist is mandatory if we are talking about uterine aplasia in combination with other pathologies. Then, for the purpose of differential diagnosis, the girl's karyotype is determined and a hormonal examination is carried out.
How to examine?
Differential diagnosis
Differential diagnostics 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 aplasia of the uterus with a delay in sexual development. In this case, along with this symptom, there will also be a delay in the development of secondary sexual characteristics in a girl, and with simple aplasia, all secondary signs are not affected. Delayed menstruation and infertility can also be with Stein-Leventhal syndrome. This is a pathology that is characterized by changes in the ovaries and their sclerosis, which disrupts the hormonal background with a deficiency of female sex hormones. Women with this syndrome are overweight and have signs of virilization. On ultrasound, the ovaries will have significant cysts. With simple aplasia, the ovaries are not affected, so the girl's hormonal background is normal and there are no external changes.
During examination, it is necessary to conduct differential diagnostics with a combination of uterine aplasia with other defects.
A thorough diagnosis of uterine aplasia is very important, since treatment tactics may differ depending on the age and stage of the disease.
Who to contact?
Treatment uterine aplasia
The issue of treating uterine aplasia should be discussed as soon as the diagnosis is established. If the diagnosis is established for a girl, then surgical treatment cannot always be used in the early stages. Often, due to the irregular 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 the blood to avoid hematometra. If the endometrium is preserved, then before any surgical intervention it is necessary to conduct conservative therapy aimed at suppressing the menstrual function. For this, drugs of different groups are used, from oral contraceptives to drugs that are antagonists of ovarian hormones and the hypothalamic-pituitary system.
- 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 that is similar to the natural female releasing hormone, which releases gonadotropic hormone. In this case, a certain amount of it is released, and after several months during the course of treatment, a natural depletion of hormones occurs, so the amount of gonadotropin decreases. Therefore, the amount of estrogens gradually decreases - this allows you to reduce menstrual function or stop it altogether. The drug is available in vials and the method of administration is subcutaneous. For the full effect of treatment, it is necessary to adhere to the course. The dosage of the drug is determined individually based on the determination of the level of estriol, but most often treatment is carried out starting from the first day of the cycle and for five days, the course is from three to six months. Precautions - cannot be used in combination with gonadotropic drugs, as this can cause hyperstimulation of the ovaries at the initial stage of treatment and their atresia. Side effects most commonly encountered include hot flashes, dry skin, itching, delayed osteoporosis, as well as abdominal pain and dyspeptic symptoms.
- Triptorelin is an antiestrogenic drug from the group of gonadotropic factor agonists. The mechanism of action of the drug is competitive binding to hypothalamic receptors and the synthesis of releasing hormone, which first causes an increase and then a blockade of the production of pituitary gonadotropic hormones. This can stop menstrual function in girls with uterine aplasia. The drug is available in injection form. The dosage of the drug for the treatment of complete blockade of the menstrual cycle is determined in combination with hormonal screening. The course of treatment is from four to six months. Precautions - if there are stones in the kidneys or gallbladder, the drug should be used with caution. Side effects may be allergic reactions, as well as initial engorgement of the mammary glands, and a small amount of uterine discharge.
- Danodiol is a drug that acts by reducing the amount of estrogen, which prevents ovulation and further hyperproliferation of the endometrium. The drug is used to quickly stop menstrual function and reduce pain before surgery. The method of administration of the drug is oral. Dosage - 400-800 milligrams per day, it is better to divide into 2 or 4 doses. Precautions - in case of liver dysfunction or hepatitis, it is better not to use the drug, and it is also necessary to dose the drug, starting with a minimum dose of 200 milligrams per day. Side effects are possible in the form of weight gain, edema, as well as allergic and dyspeptic phenomena.
Surgical treatment of uterine aplasia may have different scope of intervention. If a woman has severe pain in the lower abdomen and there is third degree of aplasia, then it is possible to resort to hysterectomy, because there is no hope for a normal pregnancy. In this case, it is possible to completely preserve the vagina, if it is not changed, and preserve sexual function.
Among other surgical treatment methods, there are many methods of plastic surgery of the walls of the uterus and vagina - colpoelongation, colpopoiesis and others. In this case, it is important whether there are changes in the cervical canal. If we are talking about simple narrowing or atresia of the cervical canal, then pregnancy is possible with the help of alternative methods of fertilization. In this case, the main goal of surgical treatment is to restore the normal structure of the uterus and the paths for fetal development. In all other cases, the goal of surgical treatment is to resume normal sexual life.
Colpoelongation is a surgical treatment for uterine aplasia, which is characterized by the formation of a narrowed or rudimentary remnant of the uterus. At the same time, by widening the lumen, it is possible to achieve normal sizes for sexual activity. This treatment is carried out in several sessions and requires repeated correction after some time.
Colpopoiesis is a surgical intervention with the formation of a new vagina from adjacent tissues. The sigmoid colon or peritoneum are most often used as a basis. For this purpose, an operation is performed in which the intestine is rotated and sutured to the cervix. Such a vagina is well supplied with blood, but regular sexual activity is necessary, since the mucous membrane is not adapted to the influence of external factors.
These are the main methods of surgical correction of uterine aplasia, which allow improving the quality of life of a patient with this pathology.
Prevention
Prevention of aplasia development is non-specific, and since it is mainly a congenital pathology, all measures concern the mother during pregnancy, if she is carrying a girl. It is necessary to avoid contact with sick people and avoid infectious lesions in the first trimester of pregnancy. In the presence of chronic foci of infection, treatment should be carried out at the stage of pregnancy planning. It is necessary to take all measures to avoid the influence of harmful factors on the body of a pregnant woman. As for the prevention of complications, somewhere at the age of three or four years, it is recommended to show each girl to a pediatric gynecologist. During this period, uterine aplasia can be diagnosed and treated with other approaches, which can completely restore sexual function by the period of maturity.
Forecast
The prognosis for uterine aplasia for carrying a normal pregnancy is unfavorable, with the exception of isolated aplasia or agenesis of the cervical canal. For complete recovery, the prognosis is also unfavorable, only restoration of sexual life is possible.
Uterine aplasia is a pathology that is very common today and is one of the causes of infertility. Most often, it is a congenital pathology that is difficult to correct. But despite this, a woman can receive symptomatic treatment and live a sexual life without any problems. Do not despair, because there is always treatment even for complex diseases.
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