Presentation on the topic "Shereshevsky-Turner syndrome". Presentation on the topic "Shereshevsky-Turner syndrome" Clinical symptoms of Shereshevsky-Turner

slide 2

Shereshevsky-Turner syndrome is a violation of the development of the sex glands caused by an anomaly of the sex chromosomes. The development of the gonads is already disturbed in early period embryo development. This syndrome occurs with a frequency of one in three thousand born girls. During the division of the germ cells of the parents, the divergence of the sex chromosomes is disrupted, as a result of which, instead of the normal number of X chromosomes (and normally a woman has two), the embryo receives only one X chromosome. The set of chromosomes is incomplete.

slide 3

A child with Shereshevsky-Turner syndrome has a primary underdevelopment of the genital organs. Instead of the ovaries, strands are formed from connective tissue the uterus is underdeveloped. This syndrome can be combined with underdevelopment of other organs. Already at birth, the girls show a thickening of the skin folds on the back of the head, a typical swelling of the hands and feet. Often a child is born small, with low body weight. Appearance of the child growth small curvature of the arms in the area elbow joints protruding ears small lower jaw short neck with a wing - prominent folds

slide 4

Clinical symptoms Shereevsky-Turner. Symptom: Frequency, % of the total number of patients small stature 100% Congenital lymphedema 65% Pterygoid folds 65% Low neck hair growth 75% Flattened rib cage 55% Short neck 50% Hallux valgus 45% Change in nails on feet and hands 75% High palate 70%

slide 5

Treatment of patients Reconstructive psychotherapeutic surgery (congenital malformations, plastic hormonal pre- internal surgery (removal of parata (estrogens, organs) of pterygoid folds, growth hormone), etc.)

slide 6

Diagnostics General analysis blood ultrasound of the uterus and ovaries daily excretion with the determination of sexual urine of estrogens and chromatin and karyotype of gonadotropins consultation with a gynecologist

Slide 7

For people with Shereshevsky-Turner syndrome, the results of the examination will be as follows: in a blood test - a decrease in the amount of estrogens and an increase in pituitary hormones (gonadotropins), especially follitropin. Increased daily excretion of gonadotropins in the urine and a decrease in estrogens. At ultrasound examination do not find the ovaries, the uterus has an underdeveloped appearance. X-ray examination reveals osteoporosis bone tissue) and various anomalies in the development of the bone skeleton. Often, people suffering from this syndrome will have diseases such as diabetes mellitus, inflammation of the large intestine and gastrointestinal bleeding, goiter and thyroiditis. A genetic study confirms the diagnosis.

    slide 2

    This is a violation of the development of the sex glands, caused by an anomaly of the sex chromosomes. The development of the gonads is disturbed already in the early period of the development of the embryo. This syndrome occurs with a frequency of one in three thousand born girls. During the division of the germ cells of the parents, the divergence of the sex chromosomes is disrupted, as a result of which, instead of the normal number of X chromosomes (and normally a woman has two), the embryo receives only one X chromosome. The set of chromosomes is incomplete.

    slide 3

    A child with Shereshevsky-Turner syndrome has a primary underdevelopment of the genital organs. Instead of the ovaries, strands of connective tissue are formed, the uterus is underdeveloped. This syndrome can be combined with underdevelopment of other organs. Already at birth, the girls show a thickening of the skin folds on the back of the head, a typical swelling of the hands and feet. Often a child is born small, with low body weight.

    Appearance of the child

    growth is small

    curvature of the hands

    elbow joints

    protruding ears

    small bottom

    jaw short neck with wing -

    prominent folds

    slide 4

    Clinical symptoms of Shereshevsky-Turner.

  • slide 5

    Treatment of the sick

  • slide 6

    Diagnostics

  • Slide 7

    For people with Shereshevsky-Turner syndrome, the results of the examination will be as follows: in a blood test - a decrease in the amount of estrogens and an increase in pituitary hormones (gonadotropins), especially follitropin. Increased daily excretion of gonadotropins in the urine and a decrease in estrogens.

    Ultrasound examination does not find the ovaries, the uterus has an underdeveloped appearance.

    An x-ray examination reveals osteoporosis (rarefaction of bone tissue) and various anomalies in the development of the bone skeleton.

    Often, people suffering from this syndrome will have diseases such as diabetes mellitus, inflammation of the large intestine and gastrointestinal bleeding, goiter and thyroiditis.

    A genetic study confirms the diagnosis.

    Slide 8

    Thank you for your attention!!!

View all slides

Presentation on the topic: » Shereshevsky-Turner syndrome Shereshevsky-Turner syndrome is a chromosomal disease that manifests itself as a complex of abnormal abnormalities. For every 3-4. - Transcript:

1 Shereshevsky-Turner syndrome Shereshevsky-Turner syndrome is a chromosomal disease that manifests itself as a complex of abnormal abnormalities. For every 3-4 thousand pregnancies, there is one case of the disease, but fewer children are born with a similar pathology, since more than 90% of pregnancies with a fetal karyotype of 45.X end in spontaneous abortion.

2 For the first time, this disease became known in 1925 thanks to the scientist Shereshevsky, who believed that the disease was caused by underdevelopment of the pituitary and gonads and was accompanied by congenital anomalies development. In 1938, Ulrich Turner introduced more detailed description syndrome, highlighting the triad of symptoms: sexual infantilism, deformity of the elbow joints, skin folds on the lateral surface of the neck. And only in 1959 the genetic nature of the disease was proved. Mostly girls suffer from this pathology.

3 The causes of Shereshevsky-Turner syndrome are the partial or complete absence of one of the sex chromosomes (monosomy). About 60% of all diseases occur in complete monosomy on the X chromosome, in other cases, the pathology is due to a structural rearrangement of the X chromosome. As a result of insufficiency of genetic information, disturbances occur in the formation of the genital organs and numerous malformations develop in the prenatal period. Cause The mechanism of development by which this genetic disorder occurs has not yet been elucidated. However, it was noted that in the presence of Shereshevsky-Turner syndrome (hereinafter referred to as the syndrome), pregnancy occurs with many complications - severe toxicosis and constant threats of miscarriage. Births take place ahead of time.

4 Symptoms Delay in physical development- the main symptom that characterizes Shereshevsky-Turner syndrome. Typical signs in most cases are already noticeable at the birth of a child: the weight of a newborn girl born on time does not exceed 2800 g, body length cm. But in 15% of patients, the lag becomes noticeable only after the onset of puberty. The height of an adult fluctuates to the limits of cm, and the height of a person does not correspond to his weight, most often patients with Shereshevsky's syndrome are overweight. The classic triad of symptoms includes excess skin on the neck. Folds of the skin, the shape of which resembles wings, are found in half of the patients. It should be noted that from the first days of a baby's life, a typical appearance for this disease is formed, the face of a newborn resembles an old woman's. Other signs of the disease may also occur, although less frequently: low-set protruding ears, understated hairline on the neck, the presence of pigmented nevi, ptosis, color blindness, the chest is shaped like a barrel, the location of the nipples is wider than usual.

5 In addition, to characteristic symptoms can be attributed to the shortened shape of the metatarsal and metacarpal bones, lack of aplasia due to underdevelopment of the digital phalanges. The elbow and wrist joints are deformed. These patients are often diagnosed with osteoporosis of the vertebrae. The crooked legs are disproportionately small. Also, often occurring manifestations include lymphostasis, the presence of edema as a result of stagnation of the lymph. It should be noted that the symptoms of Shereshevsky-Turner syndrome in different patients can differ significantly: it is quite difficult to meet two patients with the same manifestations of the disease.

6 Complications Pathological changes affect many organs and systems of the body. Suffer most often the cardiovascular system, among the pathologies of heart defects and large vessels, including non-closure of the interventricular septum, narrowing of the aortic orifice, etc. In some patients, anomalies of the kidneys and ureters are detected. Patients with the syndrome are often diagnosed with hypertension, there are violations of the digestive system, thyroid gland, development is possible diabetes. Often pathological changes affect the organs of hearing and vision among possible complications Shereshevsky-Turner syndrome, blindness or deafness of the patient should be noted. From the side gastrointestinal tract possible bleeding, etc. Monosomy is characterized by underdevelopment of both external and internal genital organs; the uterus, as a rule, is not developed, the ovaries are absent, which cannot but affect the sexual development of the patient. As for intelligence, its level in this disease can vary. IN mental development infantilism prevails in combination with euphoria, speech skills are also insufficient. Such deviations are explained by violations nervous system. However, in some patients, the changes are very small, sometimes the intellect is not affected at all. Such people adapt perfectly in society, some are even able to get higher education, although memory and the ability to think logically are still reduced.

7 How to treat Shereshevsky-Turner syndrome Unfortunately, at present, even the main cause of the disease cannot be eliminated the best specialists in the field of Shereshevsky Turner syndrome. However, a number of disorders that are characteristic of the syndrome are quite amenable to correction. First of all, the treatment of Shereshevsky-Turner syndrome consists in artificial stimulation of growth. Therapy is carried out until the growth zones are closed. Also, from the age of hormone therapy is prescribed to correct the insufficient functioning of the hormonal system, due to which secondary sexual characteristics appear, the physique develops according to female type. This therapy is carried out throughout reproductive period. It should be noted that today women with Shereshevsky-Turner syndrome have the opportunity to become pregnant using assisted reproductive technologies. Surgery for Shereshevsky-Turner syndrome is performed in cases where correction of the disorders that have arisen is necessary, for example, with coarctation of the aorta, with heart defects

Shereshevsky-Turner syndrome

Factors of occurrence of violations of the development of the sex glands in the early period of development of the embryo, caused by anomaly of the sex chromosomes. Clinical symptoms of Shereevsky-Turner. Methods of treatment of patients with this disease, methods of diagnosis and examination.

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Presentation on the topic "Shereshevsky Syndrome"

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Description of the presentation on individual slides:

Shershevsky-Turner syndrome

Shereshevsky-Turner syndrome (Shershevsky-Turner-Bonnevi-Ullrich syndrome) is a chromosomal disease accompanied by characteristic anomalies of physical development, short stature and sexual infantilism. Monosomy on the X chromosome (XO). 

Causes Connections with the age of the mother, with any diseases of the parents were NOT DETECTED. However, pregnancy is usually complicated by toxicosis, the threat of miscarriage, and childbirth is often premature and pathological. 

Variants complete monosomy on the X chromosome (karyotype 45, X0) structural rearrangements of the X chromosome (deletion / translocation / ring X chromosome) mosaicism (45, X0 / 46, XX; 45, X0 / 46, XY, etc.) 

Monosomy on the X chromosome (X0) Karyotype 45 

At birth, a child is found to have: a short neck with skin folds on the sides (pterygium syndrome), congenital heart defects, lymphostasis, swelling of the feet and hands, etc. In the neonatal period: impaired sucking, motor restlessness, frequent regurgitation with a fountain. IN early age: lag in physical development, delay speech development, frequent recurrent otitis media, leading to conductive hearing loss. Clinical picture. 

A child with Shershevsky-Turner syndrome has a primary underdevelopment of the genital organs. Instead of the ovaries, strands of connective tissue are formed, the uterus is underdeveloped. This syndrome can be combined with underdevelopment of other organs. Already at birth, the girls show a thickening of the skin folds on the back of the head, a typical edema of the hands and feet. Often a child is born small, with a low body weight. 

Clinical picture 1. Pterygium - symptom 

Clinical picture 2. Lymphostasis and swelling of the hands and feet 

  • Ananyeva Tatyana Ivanovna
  • 17.04.2017

Material Number: DB-380725

The author can download the certificate of publication of this material in the "Achievements" section of his website.

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Shereshevsky-Turner syndrome

Shereshevsky-Turner syndrome.

Slide 20 from the presentation "Diseases of the nervous system" to the lessons of medicine on the topic "Diseases of the nervous system"

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Diseases of the nervous system

« Skin diseases» - Biting and licking paws. Primary contact dermatitis. Plan. Several pathogens are involved, and therefore the picture of the disease is atypical. Endocrine skin diseases - caused by an excess or lack of a hormone. Classification of pyoderma: Skin diseases caused by bacteria. Zinc deficiency.

"Hyperthyroidism" Surgical method- resection of part of the thyroid tissue. infectious factor: severe sore throat, flu, measles, whooping cough, rheumatism Hereditary predisposition Excessive insolation and endocrine shifts. Causes Up to 80% of patients have a history of acute chronic mental trauma. Limit tea, coffee, chocolate.

"Hormones in dermatology" - ALMOST an ideal drug for dermatology! Local treatment hormones. Hormones in dermatology. Important to remember! So... Why are hormones valuable from a dermatological point of view? Glucocorticoids are ... "ALMOST" = side effects. Prednisolone: ​​cats - 1-2 mg / kg every 12 hours; dogs - 0.5-1 mg/kg every 12 hours; Schemes of systemic treatment.

"Rickets disease" - Rachitic hump: arched curvature of the spine. Dermographism is red, lasts longer than usual. clinical picture. O-shaped curvature lower extremities. Plan: Baldness on the back of the baby's head with rickets. Osteoporosis occurs, tk. the bone matrix cannot be mineralized. A clear pattern of saphenous veins appears on the head.

"History of the study of cerebral palsy" - Sigmund Freud (1856 -1939), full name Sigismund Shlomo Freud, Austrian physician, founder of psychoanalysis. History of the study of cerebral palsy. Brain damage is manifested by a violation of muscle tone and coordination of movements, the inability to maintain a normal posture and perform voluntary movements. William Osler, a Canadian physician in 1889, proposed the use of the term cerebral palsy.

"Diseases of the respiratory system" - Tuberculosis of the lungs. biological significance breathing: Removal carbon dioxide. Removal of metabolic end products (water vapor, ammonia, hydrogen sulfide, etc.). Chickenpox. Diseases transmitted through the air. Prepared by the Pupil of the 8th grade "A" of the MOU "Gymnasium No. 4" Goova Nazima. Recommendations for respiratory hygiene.

Presentation of Turner-Shereshevsky Syndrome

What is Shereshevsky-Turner syndrome? The main signs, symptoms, methods of diagnosis, prevention and treatment of the disease Shereshevsky-Turner syndrome on NeBolet.com Shereshevsky-Turner syndrome Description Shereshevsky-Turner syndrome is pathological process, which occurs in the case of abnormal development of the sex chromosomes: instead of the XX chromosomes that are inherent in the body of a woman, there is only one, thus an incomplete karyotype of chromosomes is obtained. Because of this, in the period of early embryogenesis, the development of the gonads is disrupted. In most cases, the disease occurs in girls, very rarely in boys. The mechanism of development of the syndrome has not yet been elucidated. But it was noticed that in the presence of this pathology, pregnancy proceeds with a variety of complications: constant threats of interruption and severe toxicosis. Births in most cases occur prematurely. With Shereshevsky-Turner syndrome, defects occur in the structure of the X chromosome, or it may be completely absent. Symptoms The majority of newborn girls have exceptionally mild manifestations, but sometimes severe dorsal lymphedema of the feet and hands, as well as skin folds or lymphedema in the neck ( rear surface). Immediately after birth, the girl can find a typical swelling of the feet and hands, thickened skin folds at the back of the head. A child is often born with a small body weight and growth at full-term pregnancy. Other common anomalies in such patients are a broad chest, pterygoid folds in the neck, and inverted nipples. Such girls, in comparison with members of their family, are short in stature (no more than 150-155 cm). Less common signs are ptosis, the fourth metatarsal and metacarpal bones are short, multiple pigmented nevi, hypoplasia of the nails, fingertips protrude at the ends of the fingers, elbow joints are twisted, low-lying small ears. In children with Shereshevsky-Turner syndrome, anomalies of the cardiovascular system are often found - a bicuspid aortic valve and coarctation of the aorta. With age, even in the absence of coarctation develops arterial hypertension. Hemangiomas and kidney anomalies are possible. In some cases, telangiectasia is found in the gastrointestinal tract, with further protein loss and resulting gastrointestinal bleeding. In 90% of patients, gonadal dysgenesis is noted (ovaries replace bilateral strands of fibrous stroma, there are no developing germ cells). Because of this, amenorrhea occurs, does not increase mammary glands, there is no puberty. But at the same time, 5-10% of girls suffering from Shereshevsky-Turner syndrome have menstrual bleeding. In such children, the uterus is underdeveloped, and connective tissue strands are formed in place of the ovaries. Often there are other malformations of the reproductive system: hypertrophy of the labia majora, underdevelopment of the labia minora and clitoris. Weakly expressed hairiness in armpits and on the forehead. Often patients with this pathology are prone to obesity, they have thyroiditis, goiter, diabetes mellitus, inflammatory processes colon and other diseases. Delay mental development practically does not occur, but in some patients perceptual capabilities are reduced. Diagnosis To make a diagnosis, the patient must undergo full examination, which includes: general clinical analysis of blood, urine; determination of the level of hormones in the blood - the level of pituitary hormones, especially follitropin, is increased, the amount of estrogens decreases; in daily urine elevated level gonadotropins and reduced estrogen release; ultrasound helps to detect an underdeveloped uterus and the absence of ovaries; with the help of an x-ray examination, osteoporosis and various anomalies in the development of bones are diagnosed (deformity of the wrist joint, absence of phalanges on the fingers, shortening of the metatarsal and metacarpal bones, osteoporosis of the vertebrae). Genetic testing helps to confirm the final diagnosis. Prevention to date effective prevention There is no Shereshevsky-Turner syndrome. Treatment Due to the fact that this disease is genetic in nature, achieve complete cure patients is not yet possible. Modern correction help to minimize some manifestations of this syndrome. At the first stage, patients are prescribed steroid hormones and somatotropin. They allow you to slightly increase the height of a person. From the pubertal period, the use of estrogen-containing drugs is indicated, due to which secondary sexual characteristics and the female physique begin to form. It is necessary to take hormones constantly, until the end of the reproductive period. Timely treatment started in the future helps such children to lead a normal life. In addition, with the help plastic surgery correction is being made cosmetic defects and treatment of malformations. If the syndrome does not accompany concomitant pathology severe pathology, the prognosis for the life of patients is favorable. In the future, such children can study normally and then work. Even their family implementation is possible, but often, despite replacement therapy they remain barren. 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Shereshevsky-Turner syndrome

Prepared

Physical education teacher

Musienko Anna Vadimovna


Shereshevsky-Turner syndrome

This is a violation of the development of the sex glands caused by an anomaly of the sex chromosomes. The development of the gonads is disturbed already in the early period of the development of the embryo. This syndrome occurs with a frequency of one in three thousand born girls. During the division of the germ cells of the parents, the divergence of the sex chromosomes is disrupted, as a result of which, instead of the normal number of X chromosomes (and normally a woman has two), the embryo receives only one X chromosome. The set of chromosomes is incomplete.



  • growth is small;
  • protruding ears;
  • small lower jaw;
  • curvature of the arms in the area of ​​the elbow joints;
  • short neck with pterygoid folds.

Clinical symptoms of Shereevsky-Turner.

Symptom:

Frequency, % of the total

small stature

sick

congenital lymphedema

Pterygoid folds

Low hair growth on the neck

Flattened chest

short neck

Valgus curvature

Changing the nails on the feet and hands

high palate


  • Reconstructive surgery ( birth defects internal organs);
  • Plastic surgery (removal of pterygoid folds, etc.);
  • Hormonal drugs (estrogen, growth hormone);
  • Psychotherapeutic.

  • General blood analysis;
  • daily urinary excretion of estrogens and gonadotropins;
  • Ultrasound of the uterus and ovaries;
  • determination of sex chromatin and karyotype;
  • consultation with a gynecologist

  • In the blood test - a decrease in the amount of estrogens and an increase in pituitary hormones (gonadotropins), especially follitropin.
  • Increased daily excretion of gonadotropins in the urine and a decrease in estrogens.
  • Ultrasound examination does not find the ovaries, the uterus has an underdeveloped appearance.
  • An x-ray examination reveals osteoporosis (rarefaction of bone tissue) and various anomalies in the development of the bone skeleton.
  • Often, people suffering from this syndrome will have diseases such as diabetes mellitus, inflammation of the large intestine and gastrointestinal bleeding, goiter and thyroiditis.
  • A genetic study confirms the diagnosis.

Shereshevsky-Turner syndrome Shereshevsky-Turner syndrome is a chromosomal disease that manifests itself as a complex of abnormal abnormalities. For every 3-4 thousand pregnancies, there is one case of the disease, but fewer children are born with a similar pathology, since more than 90% of pregnancies with a fetal karyotype of 45.X end in spontaneous abortion.


For the first time, this disease became known in 1925 thanks to the scientist Shereshevsky, who believed that the disease was caused by underdevelopment of the pituitary gland and gonads and was accompanied by congenital developmental anomalies. In 1938, Ulrich Turner provided a more detailed description of the syndrome, highlighting the triad of symptoms: sexual infantilism, deformity of the elbow joints, and skin folds on the lateral surface of the neck. And only in 1959 the genetic nature of the disease was proved. Mostly girls suffer from this pathology.


The causes of Shereshevsky-Turner syndrome are the partial or complete absence of one of the sex chromosomes (monosomy). About 60% of all diseases occur in complete monosomy on the X chromosome, in other cases, the pathology is due to a structural rearrangement of the X chromosome. As a result of insufficiency of genetic information, disturbances occur in the formation of the genital organs and numerous malformations develop in the prenatal period. Cause The mechanism of development by which this genetic disorder occurs has not yet been elucidated. However, it was noticed that in the presence of Shereshevsky-Turner syndrome (hereinafter referred to as the syndrome), pregnancy passes with many complications - severe toxicosis and constant threats of miscarriage. In this case, childbirth occurs ahead of time.


Symptoms Lagging behind in physical development is the main symptom that characterizes Shereshevsky-Turner syndrome. Typical signs in most cases are already noticeable at the birth of a child: the weight of a newborn girl born on time does not exceed 2800 g, body length cm. But in 15% of patients, the lag becomes noticeable only after the onset of puberty. The height of an adult fluctuates to the limits of cm, and the height of a person does not correspond to his weight, most often patients with Shereshevsky's syndrome are overweight. The classic triad of symptoms includes excess skin on the neck. Folds of the skin, the shape of which resembles wings, are found in half of the patients. It should be noted that from the first days of a baby's life, a typical appearance for this disease is formed, the face of a newborn resembles an old woman's. Other signs of the disease may also occur, although less frequently: low-set protruding ears, understated hairline on the neck, the presence of pigmented nevi, ptosis, color blindness, the chest is shaped like a barrel, the location of the nipples is wider than usual.


In addition, the characteristic symptoms include a shortened shape of the metatarsal and metacarpal bones, absence of aplasia due to underdevelopment of the digital phalanges. The elbow and wrist joints are deformed. These patients are often diagnosed with osteoporosis of the vertebrae. The crooked legs are disproportionately small. Also, often occurring manifestations include lymphostasis, the presence of edema as a result of stagnation of the lymph. It should be noted that the symptoms of Shereshevsky-Turner syndrome in different patients can differ significantly: it is quite difficult to meet two patients with the same manifestations of the disease.


Complications Pathological changes affect many organs and systems of the body. More often than others, the cardiovascular system suffers, among the pathologies are heart defects and large vessels, including non-closure of the interventricular septum, narrowing of the aortic orifice, etc. In some patients, anomalies of the kidneys and ureters are detected. In patients with the syndrome, hypertension is often diagnosed, there are disorders of the digestive system, the thyroid gland, and diabetes mellitus may develop. Often, pathological changes affect the organs of hearing and vision; among the possible complications of the Shereshevsky-Turner syndrome, blindness or deafness of the patient should be noted. On the part of the gastrointestinal tract, bleeding, etc. is possible. Monosomy is characterized by underdevelopment of both external and internal genital organs; the uterus, as a rule, is not developed, the ovaries are absent, which cannot but affect the sexual development of the patient. As for intelligence, its level in this disease can vary. Infantilism combined with euphoria predominates in mental development, speech skills are also insufficient. Such deviations are explained by disorders of the nervous system. However, in some patients, the changes are very small, sometimes the intellect is not affected at all. Such people adapt perfectly in society, some are even able to get a higher education, although memory and the ability to think logically are still reduced.


How to treat Shereshevsky-Turner syndrome Unfortunately, at present, even the best specialists in the field of Shereshevsky Turner syndrome cannot eliminate the main cause of the disease. However, a number of disorders that are characteristic of the syndrome are quite amenable to correction. First of all, the treatment of Shereshevsky-Turner syndrome consists in artificial stimulation of growth. Therapy is carried out until the growth zones are closed. Also, from the age of hormone therapy is prescribed to correct the insufficient work of the hormonal system, due to which secondary sexual characteristics appear, the physique develops according to the female type. Such therapy is carried out throughout the reproductive period. It should be noted that today women with Shereshevsky-Turner syndrome have the opportunity to become pregnant using assisted reproductive technologies. Surgery for Shereshevsky-Turner syndrome is performed in cases where correction of the disorders that have arisen is necessary, for example, with coarctation of the aorta, with heart defects