Treatment of Shereshevsky Turner. mental retardation

Shereshevsky-Turner syndrome is a chromosomal pathology of development caused by complete or partial X-monosomy.

Clinical signs of Shereshevsky-Turner syndrome: hypogonadism, short stature, joint deformity, skin folds on the neck and other malformations (including the heart).

Causes of Shereshevsky-Turner syndrome

As mentioned above, the development of this pathology is based on an anomaly of the X chromosome.

Approximately 60% of all cases are diagnosed with complete monosomy, i.e. loss of the second half of the X chromosome (karyotype 45,X0), and there is no paternal chromosome. That is why in most cases the disease occurs in girls, since boys receive a Y chromosome from their father. About 20% of cases are due to structural changes in the chromosome, and in the remaining 20% of cases there is genetic mosaicism - the existence of genetically different cells.

The risk of having a child with such an anomaly is in no way related to either the age of the mother or any pathological diseases of the parents. The true cause of Shereshevsky-Turner syndrome is a quantitative, structural or qualitative anomaly of the X chromosome, i.e. violation in the karyotype, and these changes can provoke ionizing radiation on cells during their division, as well as harmful toxic substances. A genetic predisposition to the formation of pathological chromosomes is also possible.

Such chromosomal defects cause numerous intrauterine malformations. Pregnancy in this case is usually difficult, accompanied by severe toxicosis and the threat of miscarriage, and ends, as a rule, with premature birth.

Shereshevsky-Turner syndrome: symptoms

This pathology leads to a violation of the sexual and physical development of the fetus. Mental abilities in most cases remain normal, but if intelligence is reduced, it is usually insignificant.

Children with this syndrome are most often born prematurely, but even if the pregnancy was full-term, the growth and weight indicators of the child are reduced (length - 42-48 cm, body weight - 2.5-2.8 kg).

Typical signs of Shereshevsky-Turner syndrome can be detected already at the birth of a baby, these are swelling of the arms and legs and a short neck with wing-like folds on the sides. And during the examination, he is diagnosed with lymphostasis, congenital heart defects and other disorders.

In infancy, such children are characterized by motor restlessness, sucking disorders and, as a result, frequent regurgitation with a fountain. When they get a little older, they lag behind their peers in physical and speech development. They often suffer from otitis media, which eventually leads to conductive hearing loss.

By puberty, the growth of sick children is no more than 130 cm, less often - 145. A characteristic symptom of Shereshevsky-Turner syndrome is a typical appearance: a short neck with skin folds on the sides, a wide chest, underdevelopment of the jaw bone, a low hairline, deformation auricles, the face of the "sphinx".

Bone and articular changes in patients can be manifested by scoliosis, dysplasia of the hip and elbow joints. Changes in the craniofacial skeleton can be represented by malocclusion, a high gothic palate, and an abnormally small upper or lower jaw.

With regard to cardiovascular defects, children with Shereshevsky-Turner syndrome are usually diagnosed with an aneurysm or coarctation of the aorta, a ventricular septal defect, or an open ductus arteriosus.

The most common disorders of the urinary system are duplication of the pelvis, horseshoe kidney and stenosis of the renal arteries, which causes arterial hypertension.

On the part of the visual system, the patient may experience ptosis, myopia, strabismus, and color blindness.

Among concomitant diseases, multiple pigmented nevi, diabetes mellitus, obesity, coronary heart disease, Hashimoto's thyroiditis, hypertrichosis, hypothyroidism, vitiligo, celiac disease are most often detected, and colon cancer is quite common.

In almost all women, the leading symptom of Shereshevsky-Turner is primary hypogonadism (insufficient functions of the gonads and impaired synthesis of sex hormones). Their ovaries do not contain follicles, the clitoris, the labia minora and the hymen are underdeveloped, there is also underdevelopment of the mammary glands, primary amenorrhea, scanty pubic and axillary hair growth, retracted unpigmented nipples. Almost all patients suffer from infertility.

In men, in addition to somatic defects and characteristic external signs, bilateral cryptorchidism, testicular hypoplasia, low testosterone levels, and sometimes anorchia (absence of testicles) are detected.

Shereshevsky-Turner syndrome: treatment

First of all, the therapy of this disease is aimed at normalizing growth at an early age and, accordingly, achieving significant results in final growth, as well as inducing puberty, including inducing a regular menstrual cycle and stimulating the formation of secondary sexual characteristics.

In order to increase height, as a rule, a recombinant hormone (Somatotropin) is prescribed, which, according to clinical studies, allows increasing height to 150-160 cm.

To simulate normal puberty, girls from 13-14 years of age are prescribed estrogen replacement therapy, and after 1-1.5 years - cyclic therapy with estrogen-progestogen oral contraceptives. Hormone replacement therapy is carried out throughout life, up to the age when a healthy woman begins menopause, i.e. up to about 50 years old.

In boys, the treatment of Shereshevsky-Turner syndrome is carried out using hormone replacement therapy with male sex hormones.

To eliminate congenital defects, surgical correction and plastic surgery are used.

One of the causes of female infertility may be Shereshevsky-Turner syndrome. This is a genetic disorder caused by the absence of a second X chromosome. We can say that it is she who finally makes a woman out of a woman.

Natural pregnancy with Shereshevsky-Turner syndrome is almost impossible, since the sick woman does not produce eggs of the desired quality. Previously, such a diagnosis became a sentence, and the patient lost all hope of having a baby. Today, science has stepped forward, and, having undergone certain treatment, such women can know the happiness of motherhood. Clinic "IVF Center" offers you an almost win-win method of how to get pregnant with a diagnosis of "Shereshevsky-Turner syndrome" - IVF. It is preferable because it reduces the risk of transmitting said disease to offspring.

Shereshevsky-Turner syndrome: characteristics of the disease

This disease was discovered by N. A. Shereshevsky almost 90 years ago. The Soviet endocrinologist gave a detailed description of the pathology, suggesting that the pituitary gland and sex glands, which do not fully perform their functions, are responsible for its manifestation. The scientist also drew attention to the congenital malformations of the internal development of patients. More than ten years later, Turner described the syndrome somewhat differently and outlined its main external features.

The chromosomal nature of the disease was identified by Ch. Ford in the late fifties, but his name is not reflected in the name of the disease. Subsequently, it was proved that monosomy plays a decisive role in the development of a number of anomalies of the body described by Ford's predecessors. In science, there have long been disputes about who is the discoverer of the disease.

So, Shereshevsky-Turner syndrome, the causes of which are the absence of the X chromosome or its replacement with an isochromosome, occurs in one newborn girl out of four thousand. Often, pregnancies with a fetus with this pathology end in miscarriages.

If in the process of intrauterine development a child is diagnosed with Shereshevsky-Turner syndrome, the infant's karyotype will be 45X0. It is noteworthy that initially the embryo develops normally, and only by the time of birth, the germ cells undergo atresia. In a newborn, the ovaries will be represented by rudiments, or there will be no follicles in them.

Shereshevsky-Turner syndrome: mosaic form

With a mosaic form of this disease, two types of cells are combined in the patient's body. Some have a normal karyotype, while others show pathology. In general, the karyotype will look like 46XX/45X. The health status of a woman will depend on the proportion of cells with a normal karyotype and cells without one X chromosome.

Many patients develop sexual characteristics, including the genitals. The chances of pregnancy with a mosaic type of syndrome are much higher, and conception can even occur naturally. However, a pregnant woman with this diagnosis will need prenatal karyotyping, since the fetus will be at risk.

If the expectant mother has Shereshevsky-Turner syndrome, its prevention in the child is mandatory. It consists in identifying pathologies of intrauterine development and consultations with a geneticist.

Shereshevsky-Turner syndrome: symptoms of pathology

The time of onset of the onset of the disease in all patients is not the same. In some, it is diagnosed even in the prenatal period. Such children are born with a body length of no more than 48 cm and a weight of 2500-2800 kg. In others, the pathology manifests itself after a few years: the girl noticeably lags behind in growth, parents are struck by a hallux valgus deviation in the elbow joints, a low hairline on the back of the neck, and drooping eyelids. In addition, children with Shereshevsky-Turner syndrome may suffer from mental retardation.

Although this disease is associated with sexual underdevelopment, many of its symptoms are external:

small stature (135-145 cm for an adult woman);
short neck;
wrong physique;
unusual shape of the chest (shield-shaped to barrel-shaped);
shortened bones of the wrist;
excess skin on the neck (so-called "wings")
low-set ears, deformity of the auricles;
drooping eyelids, presence of epicanthus;
an abundance of age spots.

This is what people with Shereshevsky-Turner syndrome look like. Usually they suffer from heart anomalies, circulatory system defects, kidney problems. However, it cannot be said that when making this diagnosis, the child will have a complete set of all of the above. Manifestations in each patient are individual. Turner-Shereshevsky syndrome, the signs of which cannot be the same in two women, is remarkable for this. Although statistics give an approximate picture of the disease, it is almost impossible to find several identical cases.

Turner-Shereshevsky syndrome: causes of infertility in patients

If the pathology was not detected in infancy, then with a high probability the diagnosis will be made in puberty. The reason for going to the doctor will be a noticeable lag in the sexual development of the girl. Examination can show the incorrect formation of the genital organs:

funnel-shaped entrance to the vagina;
underdevelopment of the labia minora, hymen and clitoris;
high crotch;
the appearance of the labia majora is more like a scrotum;
pathological atrophy of the skin.

Moreover, when there is a suspicion of Shereshevsky-Turner syndrome, the diagnosis can show that the girl's uterus is undeveloped, instead of the ovaries there are bilateral strands of fibrous stroma, and the eggs in them do not mature.

Secondary sexual characteristics in such patients are poorly expressed. Hair in the armpits and on the pubis is not observed in them, the mammary glands are not formed properly. Most sick girls suffer from the absence of menstruation (amenorrhea).

It is obvious that with such a pathology there will be difficulties with the continuation of the genus. Only five percent of patients are fertile and give birth to children without medical intervention. More often, if the Shereshevsky-Turner syndrome is diagnosed, infertility treatment is inevitable.

Turner-Shereshevsky syndrome and disability

Usually this disease does not limit the normal life of the patient. However, there are a number of cases when the diagnosis becomes a reason for disability registration. Medical and social examination for this should establish:

malformations of internal organs;
formation of chronic functional insufficiency of organs;
serious disorders of the endocrine system;
pathology of mental development.

It is worth noting that the Turner-Shereshevsky syndrome, the causes of which are genetic abnormalities, involves rehabilitation. Patients whose quality of life is deteriorating due to this disease undergo psychological and medical correction. Some of them may need vocational or psychological rehabilitation.

If you have already been diagnosed with Shereshevsky-Turner syndrome, pictures of patients should not scare you. You do not necessarily have all the terrible symptoms of this disease. But the main thing is that you can still become a mother. Sign up for a consultation at the IVF Center clinic, and we will tell you how.

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- This is a chromosomal disorder, which is expressed in anomalies of physical development, in sexual infantilism and short stature. The cause of this genomic disease is monosomy, that is, a sick person has only one sex X chromosome.
The syndrome is caused by primary gonadal dysgenesis, which occurs as a result of anomalies of the sex X chromosome. According to statistics, for every 3,000 newborns, 1 child will be born with Shereshevsky-Turner syndrome. The researchers note that the true number of cases of this pathology is unknown, since spontaneous miscarriages often occur in women in the early stages of pregnancy due to this genetic disorder. Most often, the disease is diagnosed in female children. Quite rarely, the syndrome is detected in male newborns.

Synonyms of Shereshevsky-Turner syndrome are the terms "Ulrich-Turner syndrome", "Shereshevsky syndrome", "Turner syndrome". All these scientists have contributed to the study of this pathology.

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

Babies are often born prematurely.

If a child is born on time, then his 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, heart defects of a congenital nature, lymphostasis are detected. The legs and feet, as well as the hands of the baby, are swollen.

The process of sucking in a child is disturbed, there is a tendency to frequent regurgitation with a fountain. There is motor restlessness.

With the transition from infancy to early childhood, there is a lag not only in physical but also in mental development. Speech, attention, memory suffer.

The child is prone to recurrent otitis media due to which he develops a conductive otitis media. Otitis media most often occurs between the ages of 1 and 6 years. In adulthood, women are prone to progressive sensorineural hearing loss, which leads to hearing loss after age 35 and older.

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

The appearance of a teenager has features characteristic of this disease: the neck is short, covered with pterygoid folds, facial expressions are inexpressive, sluggish, there are no wrinkles on the forehead, the lower lip is thickened and sags (the face of a myopath or the face of a sphinx). The hairline is underestimated, the auricles are deformed, the chest is wide, there is an anomaly of the skull with underdevelopment of the lower jaw.

Frequent violations of the bones and joints. It is possible to identify hip dysplasia and deviation of the elbow joint. Often, a curvature of the bones of the lower leg is diagnosed, shortening of the 4th and 5th fingers on the hands,.

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 tone higher. There may be abnormal development of the teeth, which requires orthodontic correction.

As the patient grows older, lymphatic edema disappears, but can occur during physical exertion.

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

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

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

In the pubertal period, girls have underdevelopment of the mammary glands with inverted nipples, hair is scanty. Periods come late or don't start at all. Infertility is most often a symptom of Turner's syndrome, however, with some variants of genetic rearrangements, the onset and bearing of pregnancy remains possible.

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

On the part of the cardiovascular system, there is often a ventricular septal defect, an open ductus arteriosus, aneurysm and coarctation of the aorta,

On the part of the urinary system, doubling of the pelvis, stenosis of the renal arteries, the presence of a horseshoe-shaped kidney, and an atypical location of the renal veins are possible.

From the visual system: strabismus, ptosis, color blindness, myopia.

Dermatological problems are not uncommon, for example, pigmented nevi in large quantities, alopecia, hypertrichosis, vitiligo.

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

From the endocrine system: Hashimoto's thyroiditis, hypothyroidism.

Metabolic disorders often cause development. Women tend to be obese.

The causes of Turner syndrome lie in genetic pathologies. Their basis is a numerical violation in the X chromosome or a violation in its structure.

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

In the vast majority of cases, monosomy of the X chromosome is detected. This means that the patient is missing a second sex chromosome. Such a violation is diagnosed in 60% of cases.

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

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

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

At the same time, the age of a pregnant woman does not affect the increase in the 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 divergence of chromosomes. During pregnancy, a woman suffers from toxicosis, she has a high risk of abortion and the risk of early delivery.
Treatment of Turner's syndrome

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

At an early age, therapy comes down to taking vitamin complexes, visiting a masseur's office, and performing exercise therapy. The child should receive good quality nutrition.

To increase growth, hormonal therapy with the use of the hormone Somatotropin is recommended. It is administered by injection subcutaneously every day. Treatment with Somatotropin should be carried out up to 15 years, until the growth rate slows down to 20 mm per year. Administer the medication at bedtime. Such therapy allows patients with Turner's syndrome to grow to 150-155 cm. Doctors recommend combining hormonal treatment with therapy using anabolic steroids. Regular monitoring by a gynecologist and endocrinologist is important, since hormone therapy with prolonged use can cause various complications.

Estrogen replacement therapy starts from the moment when a teenager reaches 13 years of age. This allows you to simulate the normal puberty of a girl. After a year or a year and a half, it is recommended to start a cyclic course of taking estrogen-progesterone oral contraceptives. Hormone therapy is recommended for women for up to 50 years. If a man is exposed to the disease, then he is recommended to take male hormones.

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

The IVF method allows women to become pregnant by transplanting a donor egg to her. However, if at least short-term ovarian activity is observed, then it is possible to use women to fertilize their cells. This becomes possible when the uterus reaches normal size.

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

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

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

Shereshevsky-Turner syndrome- chromosomal disease, accompanied by characteristic anomalies of physical development, short stature and sexual infantilism.

Basic information

For the first time this disease was described as hereditary in Mr. N. A. Shereshevsky, who believed that it was due to the underdevelopment of the sex glands and the anterior pituitary gland and was combined with congenital malformations of internal development. In Turner, he singled out a triad of symptoms characteristic of this symptom complex: sexual infantilism, pterygoid skin folds on the lateral surfaces of the neck, and deformity of the elbow joints. In Russia, this syndrome is usually called the Shereshevsky-Turner syndrome.

A clear relationship between the occurrence of Turner syndrome with age and any diseases of the parents has not been identified. However, pregnancies are usually complicated by toxicosis, threatened miscarriage, and childbirth is often premature and pathological. Features of pregnancies and childbirth ending in the birth of a child with Turner syndrome are a consequence of the chromosomal pathology of the fetus. Violation of the formation of the gonads 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 down in almost normal quantities, but in the second half of pregnancy they undergo rapid involution (reverse development), and by the time the child is born, the number of follicles in the ovary is sharply reduced compared to the norm or they are completely absent. This leads to a severe 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 role in the occurrence of malformations, since there are conditions similar to Turner syndrome, but without visible chromosomal pathology and sexual underdevelopment.

In Turner's syndrome, the gonads are usually undifferentiated connective tissue strands that do not contain gonadal elements. Less common are the rudiments of the ovaries and elements of the testicles, as well as the rudiments of the vas deferens. Other pathological data correspond to the features of clinical manifestations. The most important changes in the osteoarticular system are shortening of the metacarpal and metatarsal bones, aplasia (absence) of the phalanges of the fingers, deformity of the wrist joint, osteoporosis of the vertebrae. Radiographically, with Turner's syndrome, the Turkish saddle and the bones of the cranial vault are usually not changed. There are malformations of the heart and large vessels (coarctation of the aorta, non-closure of the ductus arteriosus, non-closure of the interventricular septum, narrowing of the aortic orifice), malformations of the kidneys. Recessive genes for color blindness and other diseases appear.

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

Clinical picture and diagnosis

Skin folds in the neck area are a characteristic sign of the disease. In the photo: a girl before and after plastic surgery

The lag of patients with Turner syndrome in physical development is noticeable from birth. Approximately 15% of patients delay occurs during puberty. For full-term newborns, a small length (42-48 cm) and body weight (2500-2800 g or less) are characteristic. The characteristic signs of Turner's syndrome at birth are excess skin on the neck and other malformations, especially of the osteoarticular and cardiovascular systems, the "sphinx face", lymphostasis (lymph stasis, clinically manifested by large edema). The newborn is characterized by general anxiety, a violation of the sucking reflex, regurgitation with a fountain, and vomiting. At an early age, some patients note a delay in mental and speech development, which indicates a pathology of the development of the nervous system. The most characteristic sign is short stature. The growth of patients does not exceed 135-145 cm, body weight is often excessive. In patients with Turner's syndrome, pathological signs are distributed according to the frequency of occurrence as follows: short stature (98%), general dysplasticity (improper physique) (92%), barrel-shaped chest (75%), shortening of the neck (63%), low hair growth on neck (57%), high "Gothic" palate (56%), pterygoid folds of the skin in the neck (46%), deformity of the auricles (46%), shortening of the metacarpal and metatarsal bones and aplasia of the phalanges (46%), deformity of the ulnar joints (36%), multiple pigmented moles (35%), lymphostasis (24%), malformations of the heart and large vessels (22%), high blood pressure (17%).

Sexual underdevelopment in Turner syndrome is distinguished by a certain peculiarity. Not uncommon signs are geroderma (pathological atrophy of the skin, reminiscent of senile) and the scrotum-like appearance of the labia majora, high perineum, underdevelopment of the labia minora, hymen and clitoris, funnel-shaped vaginal entrance. The mammary glands in most patients are not developed, the nipples are low located. 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. With Turner syndrome, there is a tendency to increase blood pressure in young people and to obesity with tissue malnutrition.

Treatment

At the first stage, therapy consists in stimulating body growth 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 therapy for patients is estrogenization (prescription of female sex hormones), which should be carried out from the age of 14-16. The treatment leads to the feminization of the physique, the development of female secondary sexual characteristics, improves the trophism (nutrition) of the genital tract, and reduces the increased activity of the hypothalamic-pituitary system. Treatment should be carried out during the entire childbearing age of patients. With Turner syndrome in men, replacement therapy with male sex hormones is used.

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

Shereshevsky-Turner syndrome is a genetically determined anomaly characterized by violation of the psychophysical status, underdevelopment of the genitals and short stature. This congenital ailment develops in girls who have one sex X chromosome instead of two. The characteristic karyotype of a sick person is 45X0, but there are other options. A child is usually born prematurely with a number of dangerous abnormalities. Partial or complete X-monosomy leaves an imprint on the whole future life of sick children.

The syndrome is manifested by underdevelopment of secondary sexual characteristics, mammary glands, hypogonadism, and the presence of anomalies of internal organs. In patients, ovaries and menstruation are often completely absent, hair grows on the chest and face, congenital pathologies of the kidneys, heart and blood vessels, articular contractures, skin folds on a short neck, and edematous limbs are found. Patients lag behind their peers in motor and sexual development. The appearance of adult women is distinguished by rough facial features, hair growth up to the back of the neck, a wide slit of the eyes, deformed ears, X-shaped legs, and short stature.

From an early age, sick children feel that they are not like others and are aware of their inferiority. Girls develop a complex due to small breasts, figure flaws and short stature. But some infantilism, which persists even in adulthood, helps patients to more easily perceive their flaws and endure constant psycho-emotional overstrain. The right approach to children with Turner syndrome helps them quickly adapt to society, lead a full life, make friends, learn, fall in love, start families. The intellectual development of most of them has no deviations.

Diagnosis of the syndrome is based on characteristic clinical findings and the results of cytogenetic analysis. Currently, prenatal diagnosis of the disease is carried out using fetal ultrasound and invasive techniques. Patients are treated with hormonal drugs, surgical restorative and restorative treatment is carried out.

The syndrome was discovered at the beginning of the last century by the endocrinologist N. A. Shereshevsky, who described the symptoms of congenital hypogonadism in his patients. A few years later, a specialist in the field of endocrinology, Turner, differently defined the nature of the pathology and proved that sexual infantilism is always combined with external manifestations and articular deformities. It is known that 1 sick child is born for every 3000 newborns. But these statistics are very conditional, because in the early stages of pregnancy, miscarriages often occur in pregnant women. The syndrome has the ICD-10 code Q96 and the name "Turner Syndrome".

Etiopathogenetic factors

Shershevsky-Turner syndrome is a hereditary pathology caused by the absence of a sex chromosome, which, one might say, finally makes a woman out of a woman. Incorrect cell division during conception leads to the alignment of genetic material with obvious violations. Incorrectly “stand up” DNA molecules lead to the indicated chromosomal imbalance.

The disease also develops as a result of improper formation of the X chromosome. The reasons for its abnormal structure are:

loss of a segment of a chromosome as a result of its rupture,
transferred part of a chromosome
the formation of a chromosome in the form of a ring,
other chromosomal rearrangements - mutations or aberrations.

Mosaicism is of great importance in the development of the disease. In patients, genetically heterogeneous cells in various variations are found in tissues. All of these options are typical for women. In men, the syndrome occurs extremely rarely. Its main causes are translocation or mosaicism. Meiotic divergence of chromosomes underlies the pathological process.

Incorrect chromosomal "assembly" may be the presence of a Y-chromosomal element in the karyotype. Such patients have their ovaries removed. This is a necessary measure to prolong the life of people with this disease, since the Y-chromosomal element often provokes the development of a cancerous tumor - gonadoblastoma.

Karyotypes in this syndrome:

Karyotype 45X0 - replacement of the glandular tissue of the ovary with connective tissue strands. Non-functioning female glands lead to irreversible infertility. For procreation, they resort to IVF. This type of syndrome is the most common and one of the most severe. It is characterized by pronounced symptoms and the development of severe complications. The syndrome is difficult to treat.
Mosaic karyotype 45 X0 / 46 XY - the absence of the uterus and the underdevelopment of the vagina, a high risk of oncology. To prevent recurrence of the disease, removal of the ovaries is indicated. Mosaic karyotype 45 X0/46 XX - negligible size of the ovaries. Pregnancy is possible with the participation of a donor egg. The mosaic type of the syndrome is characterized by a milder course: malformations are not observed, symptoms occur much less and they are less pronounced. The disease is well treated. The mosaic type is characterized by a combination of two types of cells - with a normal karyotype and without one X chromosome. The state of health of a woman will depend on their proportional ratio.

Currently, scientists have established that the syndrome occurs spontaneously. Age, heredity, lifestyle of parents and their bad habits do not have a significant impact on the formation of the anomaly. Perhaps the deformation of the chromosome occurs during fertilization under the influence of pathogenic factors - ionizing or X-ray radiation, gas contamination and pollution of the environment, strong electromagnetic effects.

Initially, the embryo lays a normal number of germ cells. In the process of growth and development of the fetus, they undergo involution. A newborn girl has very few or no ovarian follicles. In addition to ovarian dysfunction in patients in the process of embryogenesis, numerous defects of internal organs are formed.

Symptoms

Pathology is manifested by the following symptoms:

Newborns have a body weight of 2.5 kg to 2.8 kg and a body length of less than 42-48 cm.
Skin folds on the sides of the short neck.
Lymphedema of the hands and feet with an increase in lymphatic edema of soft tissues.
Deformed nail plates.
Violation of the sucking reflex, frequent regurgitation, vomiting.
Psychomotor agitation.
Violation of speech, attention and memory.
Recurrent inflammation of the middle ear, the formation of conductive hearing loss.
Short stature of children.
Wrong physique.
Inexpressive facial expressions, lack of wrinkles on the forehead, thickened and drooping lower lip, half-open mouth, deformed ears, low hair growth, unusual shape of the chest, micrognathia and microgenia.
Atypically formed during embryogenesis or postnatal period hip and elbow joints, shortened bones of the wrist, irregular leg contour as a result of “O” or “X”-shaped deformity of the lower leg, shortening of the fingers, scoliosis.
Frequent fractures due to osteoporosis.
"Gothic" sky, high timbre of voice, anomalies of teeth, malocclusion.
Intelligence in patients is completely preserved. Children easily learn the school curriculum, actively spend their leisure time, lead a full life.
Mental status - infantilism and euphoria. Mental disorders are manifested by emotional lability, depression, neurosis, anxiety and restlessness.

Sexual underdevelopment is distinguished by a certain originality. All women with Turner syndrome suffer from hypogonadism - underdevelopment of the ovaries. They lack follicles, and they themselves are gradually replaced by connective tissue fibers. The rudimentary uterus is small, the large labia resemble the scrotum in shape, the hymen and clitoris are underdeveloped, the vagina is funnel-shaped. The mammary glands have an apigmented, retracted, low-lying nipple. On the pubis and in the armpits there is scant hair growth or their absence. Menstruation is often delayed or does not occur.

In addition to sexual dysfunction, patients have congenital anomalies of internal organs:

heart and aortic defects;
nephropathy with persistent arterial hypertension;
omission of the upper eyelid, the presence of epicanthus, color blindness, myopia;
numerous moles and age spots on the body;
excessive hair growth;
geroderma - pathological atrophy of the skin, reminiscent of senile;
diabetes mellitus, ciliac disease, obesity, hypothyroidism;
expansion of small vessels of the digestive tract, internal bleeding.

Not all children show full clinical signs. In different women, the syndrome cannot manifest itself in the same way. This is what makes him remarkable. It is impossible to find even several identical cases of the disease.

Some children with this disease are born without visible external signs. They are usually diagnosed with the syndrome at the age of 12-14, when girls come to see a gynecologist. In the absence of timely treatment, irreversible changes develop in the body. Early diagnosis is very important for this disease.

Diagnostic measures

Diagnosis and treatment of the syndrome are carried out by geneticists, gynecologists, neonatologists, pediatricians, as well as doctors of narrow specialties. First of all, attention is drawn to the characteristic clinical signs that are present even in newborns. A syndrome with an erased clinical picture is detected in the pubertal period by the absence of menarche, underdevelopment of the genital organs.

Laboratory and instrumental methods:

Hormonal blood test - an increase in gonadotropins and a decrease in estrogens.
Molecular genetic study - the study of the karyotype and the determination of sex chromatin.
Cytogenetic analysis and research with a Y-specific probe - verification of the absence of the X chromosome or its structural changes.
Prenatal diagnosis consists in identifying signs of the syndrome in the fetus according to ultrasound or invasive methods: chorionic biopsy, amniocentesis.
Echocardiography and ECG reveal heart defects.
MRI and ultrasound of the kidneys.
X-ray examination of the musculoskeletal system.
Ultrasound of the genital organs.

Therapeutic activities

Sick children are shown a multifaceted treatment aimed at stimulating growth, combating osteoporosis and restoring sexual function. These activities allow girls and young women to be active in society, live life to the fullest and enjoy every moment of it.

The goals of therapeutic measures in Turner's syndrome: stimulation of the patient's growth, activation of the formation of sexual characteristics, regulation and normalization of the menstrual cycle, correction of pathologies of appearance, return of the woman's reproductive function.

Growth stimulation is carried out with the help of hormone therapy "Somatotropin", "Genotropin", "Jintropin" in combination with anabolic steroids - "Progesterone". Injections of drugs continue until the age of 15, while the child is actively growing.
Estrogen replacement therapy begins at the age of 13 and normalizes the girl's puberty. Her physique is feminized, secondary sexual characteristics develop, the size of the uterus normalizes, and the trophism of the genital tract improves. Estrogen-progesterone oral contraceptives are taken by women in courses until the menopause. They accelerate sexual development, form the menstrual cycle and stop the possibility of developing osteoporosis.
In vitro fertilization allows sick women to become pregnant. They are implanted with donor eggs or their own, if there is even a slight ovarian activity.
General strengthening treatment consists in the use of vitamin complexes, visiting a massage parlor and performing exercise therapy. Good quality and nutritious food is of great importance.
Physiotherapy also gives a good healing effect - electrophoresis, UHF and others.
Plastic surgery eliminates existing cosmetic defects - folds on the neck, defects in the ears and eyelids, genital organs, and other types of surgical intervention - malformations of internal organs.
Psychotherapeutic treatment.

With Turner syndrome, you can live a full life if it is detected and treated in time. It is necessary to prepare parents and patients for the course of basic therapy. Infertility is a severe symptom. Most sick women cannot have children. Only 5% of patients remain fertile, and they give birth on their own. The rest are treated for infertility. With the help of IVF, in the presence of a formed uterus, you can implant your own or a donor fertilized egg.

Forecast and prevention

If the treatment of the syndrome was started on time, its prognosis is favorable. Patients without serious comorbidities often live to advanced years. Some of them give birth to children and live a full life. However, most women remain infertile. With the help of relatives and specialists, the process of adaptation to life in society is quite fast.

Prevention measures:

karyotype analysis before conception,
medical genetic counseling and prenatal diagnostics,
exclusion of physical activity,
regular visits to highly specialized specialists,
taking prescribed medications.

If during pregnancy it becomes known that a child with Shereshevsky-Turner syndrome will be born in the family, do not panic. A girl may be born outwardly normal. Diseases of the genital organs are currently successfully treated. Before making the right decision, you need to consult with a specialist.

In most cases, the syndrome allows sick women to live a full life. But in some cases, such a diagnosis becomes the cause of disability. It is issued if patients have malformations of internal organs with their chronic functional insufficiency, serious endocrinopathies, mental abnormalities. Such women require psychological rehabilitation and professional medical correction.