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Shereshevsky Turner syndrome

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For the first time, this disease as a hereditary was described in 1925 by the Soviet endocrinologist N. A. Shereshevsky, who believed that it was caused by an underdevelopment of the sex glands and the anterior pituitary gland and was combined with congenital defects of internal development. In 1938, Turner identified a triad of symptoms characteristic of this symptom complex: sexual infantilism, skin-winged folds on the lateral surfaces of the neck, and deformity of the elbow joints. In Russia, this syndrome is called Shereshevsky - Turner syndrome. The etiology of the disease (monosomy on the X chromosome) was discovered by C. Ford in 1959.

There is no clear correlation between the onset of Turner syndrome and the age and any diseases of the parents. However, pregnancy is usually complicated by toxicosis, the threat of miscarriage, and childbirth is often premature and pathological. Features of pregnancy and childbirth, ending with the birth of a child with Turner syndrome - a consequence of chromosomal pathology of the fetus. Violation of the formation of the sex glands in Turner syndrome is due to the absence or structural defects of one sex chromosome (X chromosome).

In the embryo, the primary germ cells are laid in almost normal amounts, but in the second half of pregnancy their rapid involution occurs (reverse development), and by the time the baby is born the number of follicles in the ovary is sharply reduced or completely absent compared to the norm. This leads to a pronounced deficiency of female sex hormones, sexual underdevelopment, in most patients - to primary amenorrhea (absence of menstruation) and infertility. The resulting chromosomal abnormalities are the cause of malformations. It is also possible that concomitant autosomal mutations play a certain role in the development of malformations, since there are conditions similar to Turner syndrome, but without visible chromosomal pathology and sexual underdevelopment.

In Turner syndrome, the sex glands are usually undifferentiated connective tissue strands that do not contain gonadal elements. Less common are ovarian rudiments and elements of the testes, as well as rudiments of the vas deferens. Other pathological data correspond to the peculiarities of clinical manifestations. The most important changes in the osteo-articular system are shortening of the metacarpal and metatarsal bones, aplasia (absence) of the phalanges of the fingers, deformity of the wrist joint, and osteoporosis of the vertebrae. Radiographically with Turner syndrome, the turkish saddle and the bones of the cranial vault are usually unchanged. There are heart defects and large vessels (coarctation of the aorta, non-union of the canal duct, non-union of the interventricular septum, narrowing of the aortic orifice), and kidney defects. Recessive genes for color blindness and other diseases manifest.

Shereshevsky-Turner syndrome is much less common than trisomy X, Klinefelter syndrome (XXY, XXXY), and XYY, which indicates the presence of a strong selection against gametes that do not contain sex chromosomes, or against XO zygotes. This assumption is confirmed by the often observed monosomy X among spontaneously aborted embryos. In this regard, it is assumed that the surviving zygotes of the XO are the result not of meiotic, but of mitotic nondisjunction, or loss of the X chromosome at early stages of development. Monosomy YO in humans not detected. The population frequency is 1: 1500.

The backlog of patients with Turner syndrome in physical development is noticeable from birth. Approximately 15% of patients with a delay in puberty. For full-term newborns, a small length (42–48 cm) and body weight (2500–2800 g and less) are characteristic. The characteristic signs of Turner syndrome at birth are an excess of skin on the neck and other malformations, especially of the osteo-articular and cardiovascular systems, "face of the sphinx", lymphostasis (lymph stasis, clinically manifested by large edemas). The newborn is characterized by general anxiety, violation of the sucking reflex, regurgitation of a fountain, vomiting. At an early age, in some patients, mental and speech developmental delay is noted, which indicates a pathology of the nervous system. The most characteristic feature is short stature. The height of patients does not exceed 135-145 cm, body weight is often excessive.

In Turner syndrome, the pathological signs of occurrence are as follows: short stature (98%), general dysplasticity (poor build) (92%), barrel chest (75%), shortening of the neck (63%), low hair growth on the neck ( 57%), high “Gothic” palate (56%), pterygoid skin folds in the neck (46%), deformation of the auricles (46%), shortening of the metacarpal and metatarsal bones and aplasia of the phalanges (46%), deformity of the elbow joints ( 36%), multiple pigment moles (35%), lymphostasis (24%), heart defects and large vessels (22%), high blood pressure (17%).

Sexual underdevelopment in Turner syndrome is distinguished by a certain originality. Frequent signs are geroderma (pathological atrophy of the skin, resembling senile) and the scrotal form of the labia majora, high crotch, underdevelopment of the labia minora, hymen and clitoris, funnel-shaped entrance to the vagina. The mammary glands in most patients are not developed, the nipples are low. Secondary hair growth appears spontaneously and is scarce. The uterus is underdeveloped. The sex glands are not developed and are usually represented by connective tissue. In Turner syndrome, there is a tendency to increase blood pressure in young people and to obesity with malnutrition of tissues.

The intelligence of the majority of patients with Turner syndrome is almost preserved, but the incidence of oligophrenia is still higher. Mental retardation in patients with this syndrome is more common than in the population [1]. In the mental status of patients with Turner syndrome, the main role is played by a kind of mental infantilism with euphoria with good practical adaptability and social adaptation. Many patients have reduced cognitive interests, lack of spatial representations, underdevelopment of the emotional-volitional sphere and the lack of creative inquiries [1].

The diagnosis of Turner syndrome is based on characteristic clinical features, the determination of sex chromatin (the substance of the cell nucleus) and the study of the karyotype (chromosome set). The differential diagnosis is carried out with nanism (dwarfism), to exclude which the determination of the content of pituitary hormones in the blood, especially gonadotropins, is carried out.

At the first stage, therapy consists in stimulating the growth of the body with anabolic steroids and other anabolic drugs. Treatment should be carried out with minimal effective doses of anabolic steroids intermittently with regular gynecological monitoring. The main type of treatment of patients is estrogenization (the appointment of female sex hormones), which should be carried out from 14-16 years. Treatment leads to the feminization of the body, the development of female secondary sexual characteristics, improves trophism (nutrition) of the genital tract, reduces the increased activity of the hypothalamic-pituitary system. Treatment should be carried out throughout the entire fertile age of patients.

If with the help of hormone therapy it is possible to grow the uterus to normal size, then pregnancy in such patients is possible with the help of IVF with a donor egg cell. Cases where their eggs are preserved are rare.

Recently, somatotropin therapy has been carried out to increase the final growth rate.

The prognosis for life in Turner syndrome is favorable, with the exception of patients with severe congenital heart defects and large vessels and renal hypertension. Treatment with female sex hormones makes patients capable of family life, but the vast majority of them remain sterile.

Symptoms of Turner Syndrome

Symptoms of Turner syndrome begin to manifest from birth. The clinical picture of the disease is as follows:

Children are often born prematurely.

If a child is born in a timely manner, then the body weight and height will be underestimated compared to the average values. Such children weigh from 2.5 kg to 2.8 kg, and their body length does not exceed 42- 48 cm.

The neck of the newborn is shortened, there are folds on its sides. In medicine, this condition is called pterygium syndrome.

Often in the neonatal period, congenital heart defects, lymphostasis are detected. The feet and legs, as well as the baby’s wrist, are swollen.

The process of sucking the child is broken, there is a tendency to frequent regurgitation fountain. There is motor restlessness.

As the transition from the infant period to the period of early childhood, there is a lag not only in physical but also in mental development. Speech suffers, attention is memory.

The child is prone to recurrent otitis media due to which he has a conductive hearing loss. Otitis most often occurs between the ages of one and six years. In adulthood, women are subject to progressive neurosensory hearing loss, which leads to hearing impairment after 35 years and older.

By the period of puberty, the growth of children does not exceed 145 cm.

The appearance of the adolescent has features characteristic of this disease: the neck is short, covered with pterygoid folds, mimic is not very pronounced, sluggish, there are no folds on the forehead, the lower lip is thickened and droops (face of myopath or sphinx face). The hairline is underestimated, the ears are deformed, the chest is wide, there is an abnormality of the skull with underdevelopment of the mandible.

Frequent violations of the bones and joints. Hip dysplasia and elbow deviation may be detected. Often diagnosed curvature of the bones of the leg, shortening 4 and 5 fingers, scoliosis.

Insufficient production of estrogen leads to the development of osteoporosis, which, in turn, causes the occurrence of frequent fractures.

The high gothic sky contributes to the transformation of the voice, making its shade higher. An abnormal tooth development is possible, which requires orthodontic correction.

As the patient matures, lymphatic edema disappears, but may occur during exercise.

The intellectual abilities of people with Shershevsky-Turner syndrome are not impaired, oligophrenia is rarely diagnosed.

Separately, it is worth noting violations of the functioning of various organs and organ systems characteristic of Turner syndrome:

On the part of the reproductive system, the leading sign of the disease is primary hypogonadism (or sexual infantilism). 100% of women suffer from this. At the same time in their ovaries there are no follicles, and they themselves are represented by strands of fibrous tissue. The uterus is underdeveloped, reduced in size relative to the age and physiological norms. The labia have a labia-shaped, large labia, and the labia minora, the hymen and the clitoris are not fully developed.

In the pubertal period, the girls have underdeveloped mammary glands with inverted nipples, hair growth is scanty. Monthly come with a delay, or do not start at all. Infertility is most often a symptom of Turner syndrome, however, with some variants of genetic rearrangements, the onset and gestation of pregnancy remains possible.

If the disease is detected in men, then on the part of the reproductive system, they have abnormalities in the formation of the testes with their hypoplasia or bilateral cryptorchidism, anorchia, extremely low testosterone concentration in the blood.

Since the cardiovascular system is often observed ventricular septal defect, open arterial duct, aneurysm and aortic coarctation, coronary heart disease

On the part of the urinary system, doubling of the pelvis, renal artery stenosis, the presence of a horseshoe kidney, atypical location of the renal veins are possible.

On the part of the visual system: squint, ptosis, color blindness, myopia.

Frequent dermatological problems, for example, pigmented nevi in ​​large quantities, alopecia, hypertrichosis, vitiligo.

On the part of the gastrointestinal tract there is an increased risk of colon cancer.

On the part of the endocrine system: Hashimoto thyroiditis, hypothyroidism.

Metabolic disorders often cause the development of type 2 diabetes. Women have a tendency to obesity.

Causes of Turner Syndrome

Causes of Turner syndrome are rooted in genetic pathologies. Their basis is a numerical disorder in the X chromosome or a disorder in its structure.

Abnormalities in the formation of the X chromosome in Turner syndrome may be associated with the following anomalies:

In most cases, monosomy of the X chromosome is detected. This means that the patient has no second sex chromosome. Such a violation is diagnosed in 60% of cases.

Various structural abnormalities in the X chromosome are diagnosed in 20% of cases. This may be a deletion of the long or short arm, chromosomal translocation of the X / X type, terminal deletion of the X chromosome in both arms with the appearance of the ring chromosome, etc.

Another 20% of cases of the development of Shereshevsky-Turner syndrome occur in mosaicism, that is, the presence in the tissues of humans of genetically different cells in different variations.

If pathology occurs in men, then the reason is either mosaicism or translocation.

In this case, the age of a pregnant woman does not affect the increased risk of the birth of a newborn with Turner syndrome. Both quantitative, qualitative, and structural pathological changes in the X chromosome occur as a result of meiotic discrepancy of chromosomes. During pregnancy, a woman suffers from toxemia, she has a high risk of miscarriage and the risk of preterm delivery.

Turner syndrome treatment

Treatment of Turner's syndrome is aimed at stimulating the growth of the patient, at activating the formation of signs that determine the sex of a person. Women doctors try to adjust the menstrual cycle and to achieve its normalization in the future.

At an early age, therapy is reduced to the intake of vitamin complexes, a visit to the office of a massage therapist, and exercise therapy. The child should receive high-quality nutrition.

To increase growth, hormone therapy is recommended with the use of the hormone Somatoropin. It is injected subcutaneously every day. Treatment with Somatotropin should be carried out up to 15 years, until the growth rate slows to 20 mm per year. Enter the medicine before bedtime. Such therapy allows patients with Turner syndrome to grow up to 150-155 cm. Doctors make recommendations to combine hormone therapy with anabolic steroid therapy. It is important to regularly monitor a gynecologist and an endocrinologist, since hormone therapy with prolonged use can cause various complications.

Estrogen replacement therapy starts from the moment a teenager reaches 13 years of age. This allows you to simulate the normal puberty girls. After a year or a year and a half, it is recommended to begin cyclical exchange intake with estrogen-progesterone oral contraceptives. Hormone therapy is recommended to appoint women for up to 50 years. If a man is exposed to a disease, then he is recommended to take male hormones.

Cosmetic defects, in particular, folds in the neck, are eliminated with the help of plastic surgery.

The IVF method allows women to become pregnant when a donor egg is transplanted to it. However, if there is at least a short-term ovarian activity, then it is possible to use a woman for fertilization. This becomes possible when the uterus reaches its normal size.

In the absence of severe heart defects, patients with Turner syndrome can live until natural old age. If you follow the therapeutic scheme, then it becomes possible to start a family, live a normal sex life and have children. Although the vast majority of patients remain childless.

Measures of prevention of the disease are reduced to a consultation with a geneticist and to prenatal diagnosis.

Article author: Pavel Mochalov | D.M.N. general practitioner

Education: Moscow Medical Institute. I. M. Sechenov, specialty - “Medicine” in 1991, in 1993 “Occupational diseases”, in 1996 “Therapy”.

Shereshevsky-Turner syndrome - the main symptoms:

  • Skin pigmentation
  • Emotional Instability
  • Lack of menstruation
  • Anxiety
  • Foot deformation
  • Strabismus
  • Parted mouth
  • Mental retardation
  • Underdeveloped chest
  • Small stature
  • Inability to wrinkle forehead
  • Curvature of the teeth
  • Neck crease
  • Lack of hair in the armpits
  • Thorax barrel-shaped
  • Deformation of brushes
  • Low hairline
  • Wide apart nipples
  • Отсутствие волос на лобке
  • Маленькие ногти

Синдром Шерешевского-Тернера – генетическая патология, которая обуславливается отсутствием в кариотипе индивида одной из хромосом половой системы. The characteristic difference of the disease is that it affects only girls. The frequency of the disease is one case per five thousand newborn girls. Often with this disease there is a spontaneous interruption of the period of childbearing (in the early stages). For this reason, it is impossible to accurately determine the frequency with which the disease occurs. A feature of the disease is that it has a very favorable outcome.

Signs of this syndrome are - short stature, various malformations of vital organs, strabismus, the presence of skin folds on the neck and deformation of the articular joints. This is the only genetic disease in which women live with 45 chromosomes, instead of the normal karyotype of 46 chromosomes. The diagnosis is established due to specific clinical features. In addition, it is possible to diagnose such a disease during pregnancy.

Treatment of the syndrome is complex and is based on the use of hormone therapy to correct congenital malformations. In the international classification of diseases (mcb 10), pathology occurs under several meanings — Q 96, the disease itself, Q 96.8 — other variations of the disease.

The main reason for the formation of Shereshevsky-Turner syndrome is a violation of the normal karyotype, in which there is an absence of the second sex chromosome. The mechanism of transmission of the disease is not fully understood. In the medical field there are many disputes about his heredity. Predisposing factors for the occurrence of the disease are:

  • various infections of the reproductive system, previously transferred to the future mother,
  • adverse environmental conditions, pollution,
  • the use of large quantities of alcohol by a woman during pregnancy,
  • strong electromagnetic or ionizing radiation,
  • starvation or any other depletion of the body, for example, in severe illness (often during the period before conception).

In most cases, the appearance of the syndrome is observed by chance - often these children are born from absolutely healthy parents. This means that it is impossible to predict the conception of a sick child or to take preventive measures in advance. During pregnancy, you can learn about the disease only by analyzing the karyotype.

Varieties

Shereshevsky-Turner's syndrome provides for the presence of a whole complex of disorders on the part of the reproductive system and the structure of vital organs. Based on the nature of genetic pathology, medicine knows several variants of the disease:

  • the absence of the second sex chromosome - this form of the disease occurs most often. Its peculiarity is that in the first trimester, the ovaries of the fetus develop normally. But with the increase in gestational age, the replacement of the future egg cells with connective tissue gradually begins to manifest itself, and also the defects of internal organs begin to develop. Besides the fact that this type is the most common, it is one of the most severe, the symptoms are pronounced, it is difficult to treat, it occurs with the presence of complications,
  • Mosaic - the easiest type of disease, since severe malformations are not observed, there are only some signs of a specific appearance, but they are much smaller than in the previous form. Complications are extremely rare. Treats well
  • structural changes in sex chromosomes - it is diagnosed in rare cases in women who have a normal karyotype, but one of the chromosomes of the reproductive system is badly damaged. Characteristic symptoms of the disease are present, but they are much smaller than in the first form.

Many newborn girls have only minor symptoms, but some have a deformity of the hands and feet, and skin folds on the back of the neck. Other symptoms of this syndrome include:

  • specific facial expression - mimicry is weak, the inability to wrinkle the forehead, the mouth is always half open, the lower lip hangs a little,
  • the shape of the chest has the appearance of a barrel
  • swelling of the lower extremities,
  • low growth combined with high body mass
  • the hairline on the neck is low,
  • nipples are localized much lower and wider than in healthy children,
  • significant impairment of puberty can be seen in adolescence. The absence of menstruation, hair on the pubis and in the armpits, the underdevelopment of the mammary glands,
  • growth retardation - the older the child becomes, the brighter the sign is,
  • curvature of the dentition - observed in all genetic diseases,
  • strabismus,
  • mental retardation - children are marked by inattention and poor memory,
  • mental disorders in the form of emotional instability, depression, psychosis, constant anxiety,
  • malformations of the internal organs - the cardiovascular system, the organs of hearing, the kidneys (they are often doubled).

Complications

Often there is such a consequence of the disease, as female infertility. But there are cases when women who suffer from such a disease may become pregnant, traditionally or with the help of artificial insemination. This is possible only in patients with a mosaic variant of the disease or in the case of early hormonal treatment. Mainly complications associated with the pathologies of internal organs and systems:

  • predisposition to the early development of diseases of the cardiovascular system,
  • infectious and inflammatory processes in the kidneys and bladder,
  • otitis,
  • the occurrence of malignant neoplasms on the skin,
  • various psychological problems
  • high risk of diabetes and obesity.

With timely, correct diagnosis and complex treatment, people with this syndrome fully adapt to life. The exceptions are persons with severe congenital heart defects and blood vessels.

Diagnostics

Despite the presence of specific external signs, Shereshevsky-Turner cider is diagnosed with some difficulties. This is due to the fact that the mosaic form of the disease or structural changes in the two sex chromosomes are often encountered. In such cases, it is likely that the symptoms of the disease may be absent. In this case, only a special test for karyotype, karyotyping, can confirm the diagnosis.

The basis of diagnostic activities are:

  • determination of the reasons why this disease arose,
  • karyotyping of parents and fetus,
  • Ultrasound.

In the first case, it is necessary to conduct a detailed survey of parents about the influence of harmful factors or alcoholism. A conversation with a geneticist is aimed at ascertaining the presence of genetic diseases, up to the fourth generation. It is believed that the risk of the formation of the syndrome is great if someone in the family of one of the parents suffered from chromosomal abnormalities. If this information is not confirmed, then this stage has no diagnostic value.

The determination of the karyotype of the parents is carried out not only in cases of suspicion by a specialist, but can also be done at the request of the parents. The procedure, in essence, resembles a normal vein blood sample for laboratory examination. The analysis is carried out in the period from 10 to 12 weeks of pregnancy. The process of obtaining fetal cells for research is carried out using a puncture, during which a special needle is introduced into the uterine cavity through the anterior abdominal wall.

Ultrasound of the fetus during pregnancy is an indispensable examination in the diagnosis of many intrauterine diseases. Definitely not detect such a syndrome ultrasound, but it provides information about the various signs of the manifestation of the disease.

After giving birth to a child with this genetic disorder, additional research is needed:

  • Ultrasound of internal organs
  • ECG - to study the work of the heart,
  • EchoCG - allows you to detect anomalies of the cardiovascular system,
  • complete blood count - reflects the many processes occurring in the internal organs and systems,
  • urine analysis - similar to the previous procedure displays some internal processes,
  • radiography of hands and bones of feet.

In addition, patients with this syndrome must undergo examinations by many specialists from different fields of medicine. Thus, diagnosis plays an important role in determining the karyotype, form of the disease and treatment tactics.

Like many chromosomal diseases, this syndrome cannot be completely cured. The main task of therapy is aimed at the use of hormonal substances and growth stimulation. In early childhood, therapeutic massages, physical therapy courses and vitamin complexes can be used. In adolescence, estrogen replacement therapy is prescribed.

In addition, apply:

  • surgery - to eliminate the defects of internal organs,
  • plastic surgery - elimination or reduction of the manifestation of external signs of the disease,
  • psychotherapeutic treatment.

Specific prevention of the syndrome does not exist. Parents are advised to carry out a karyotype analysis before conception and a similar test for the fetus, if a specialist is suspected.

If you think you have Shereshevsky-Turner syndrome and the symptoms characteristic of this disease, doctors can help you: a geneticist, a therapist.

We also suggest using our online disease diagnostics service, which selects possible diseases based on the entered symptoms.

Martin-Bell syndrome is a common genetic abnormality that is more often diagnosed in boys than in girls. These medical statistics are quite disappointing - the frequency of birth of babies with this disease is 1 in 6000 girls, and 1 in 4000 boys. It is worth noting that the representatives of the stronger sex, the disease is more difficult, but there are still some exceptions. The reason for the manifestation in girls of more obsolete symptoms is the compensating effect that the second X chromosome in the karyotype has.

Prolactinoma is a benign tumor of the pituitary gland, which is localized on the anterior lobe and causes the production of a large amount of the hormone prolactin. This hormone is responsible for the postpartum secretion of milk. It is also produced in smaller quantities by male representatives. Together with other hormones, prolactin is responsible for reproduction and sexual function. That is why it takes part in the production of testosterone and provides sperm activity, and also synthesizes estrogen and promotes ovulation.

The syndrome of insufficient production of sex hormones, which arises as a result of the dysfunction of the sex glands, is called hypogonadism. There is hypogonadism in men and women, and it can be both acquired and innate, and it can develop in a person at any age. The main manifestations of the violation is the lack of formation of the external and internal organs of the reproductive system, which, accordingly, leads to their inability to perform their functions. These symptoms are called primary, but with this pathological condition and secondary symptoms characterized by a disorder of fat and protein metabolism, as well as disorders of the cardiovascular system and changes in the skeletal system.

Achondroplasia is a congenital pathology in which a pathological disorder of bone growth occurs, namely the skeletal bone tissue and the skull.

Polycystic ovarian disease is a hormonal disease that occurs when ovulation is not in the female body. Polycystic ovaries, the symptoms of which are expressed in a significant increase in them and a number of other specific manifestations, leads to the formation on the ovarian surface of numerous cysts in the form of follicles filled with liquid with unripe eggs in them. As a result of polycystic and specific proliferation of cysts characterizing its course - the impossibility of the onset of pregnancy in a woman and, accordingly, infertility.

With exercise and temperance, most people can do without medicine.

Basic concepts

Shereshevsky-Turner syndrome (Ulrich-Turner) is a genetic disease that is caused by a violation of the structure or the complete absence of one of the sex X-chromosomes.

The name of the syndrome was in honor of the doctors who first described the disease in the early 20th century, sometimes the disease is called gonadal dysgenesis, indicating the main symptom of the disease. The disease is rare, according to statistics, the syndrome is detected in 1 of 3 - 5 thousand newborns. But the true prevalence of the disease in the population is difficult to determine, since the pregnancy of a woman who bears a fetus with genetic defects often ends in a sabotage.

The only X chromosome determines the female gender of the child. But the normal sexual development of a single nucleoprotein structure can not provide. In addition, the “dropped out” DNA contains about 5% of all genetic information, a child with such a genotype will inevitably have developmental defects and malfunctions in the work of various organs.

Causes of illness

Prerequisites for the development of the syndrome occur during the formation of the embryo. One of the chromosomes “falls out” or has an abnormal structure. The causes of the appearance of chromosomal diseases are still not sufficiently studied. It is believed that the effects of ionizing radiation, environmental pollution, illness of parents before conception, the use of medicines increase the risk of having a baby with pathology. But described the situation of the birth of a baby with a genetic syndrome in absolutely healthy parents, which indicates the "randomness" of the mutation.

Sometimes when examining moms and dads of a sick baby, signs of “gonadal mosaicism”, the simultaneous presence of normal and abnormal germ cells, are found. If a defective gamete was involved in the formation of the embryo, the child has chromosomal diseases.

The manifestations of the disease in older age

As the baby grows up, the symptoms of the disease become more visible, new signs of illness appear:

  • developmental lag.

Girls with Shereshevsky-Turner syndrome are significantly lagging behind in physical development from their peers; with age, this difference becomes more noticeable. Not high and the body weight of children with this genetic syndrome. Such changes are explained by a malfunction in the endocrine system of the child, and the insufficiency of important hormones.

Mental development in most patients with this syndrome does not suffer. Sometimes there is a slight decrease in cognitive functions, memory, ability to concentrate, associated with a lack of thyroid hormones. Cases of a significant decrease in intelligence, the development of oligophrenia are extremely rare,

  • violation of puberty.

Pathology of the reproductive system occurs in almost every patient with this genetic syndrome. The only sexual X chromosome cannot ensure the normal development of the reproductive organs.

Changes in the body that occur in normal girls during adolescence are associated with an increase in the concentration of sex hormones. Patients with a genetic syndrome do not develop normal puberty. Anomalies of development of the mammary glands are manifested in a slight increase in the breast, a violation of the shape and pallor of the nipples. Hair growth is markedly insignificant, sometimes the scalp appears in places characteristic of men (hands, upper lip, chest). Internal genital organs: the vagina, uterus and fallopian tubes are also underdeveloped,

  • hyperpigmentation.

Violation of the endocrine glands leads to increased formation of melanin pigment in the skin. For patients characterized by the appearance of moles, pigment spots, which usually appear in childhood. Over time, their number and size may increase. Some patients have a general darkening of the skin, the woman looks dark,

  • somatic diseases.

Malformations of the internal organs lead to a violation of their function, the development of renal, cardiovascular insufficiency. Women with a genetic syndrome often suffer from hypertension. There are variants of the course of the disease, which are accompanied by hearing loss, visual impairment, diseases of the bone-joint apparatus, diabetes mellitus, hypothyroidism. Deformations of auricles, teeth curvature, skin fold in the neck are regarded as a cosmetic defect and are corrected with the help of surgical treatment.

Prognosis and prevention

In the absence of gross developmental defects, women with a genetic syndrome live a long life, create families, are socialized enough. A big influence on the quality of life is also affected by the adequacy of the treatment, which can significantly reduce the symptoms of the disease.

Preventive measures include medical and genetic counseling for families who are at risk for the development of hereditary diseases, examination of women during pregnancy.

Genetic diseases are rare, but their feature is the combination of the pathology of various organs and systems, characteristic external manifestations. There are many reasons for the development of mutations in the genotype and it is not always possible to detect a factor that influenced the appearance of abnormalities in a child.No family is immune from the appearance of a baby with a genetic defect.

Parents of a child with Shereshevsky-Turner syndrome need to understand that the correct, timely started treatment significantly improves the quality of life of the baby and reduces the severity of the main symptoms. In general, the prognosis for this disease is favorable, children with a genetic defect are able to socialize in society, get a higher education, live a long life.

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