Shereshevsky-Turner syndrome does not interfere with normal life. Shereshevsky-Turner syndrome: features of the course and treatment of pathology Shereshevsky Turner - is it possible to get pregnant

Shereshevsky-Turner syndrome is a congenital pathology caused by an abnormal number of chromosomes in a child. There are several types of this genetic disease. All of them are associated with the absence of the second X chromosome in newborn girls. This genetic defect has a number of characteristic external signs. Since the genome of children with this syndrome lacks the Y chromosome, only girls are affected.

The prevalence of Shereshevsky-Turner syndrome is, according to various sources, from 0.02 to 0.033% ( one case in 3–5 thousand newborn girls). The disease occurs everywhere and in representatives of all races and peoples. No specific factors have been identified that increase the risk of developing this disease.

Unlike many other chromosomal diseases, this syndrome is characterized by a very favorable prognosis. Most girls not only survive, but can lead quite normal independent lives. The main problems are related to endocrine disorders.

Interesting Facts

• The syndrome got its name from the scientists who made the greatest contribution to the study of this pathology. In 1925, the Soviet endocrinologist N.A. Shereshevsky suspected the hereditary nature of the disease. Later, in 1938, the American doctor G. Turner described the most characteristic symptoms.
• In the English-language literature, the disease is sometimes also called Ullrich-Turner syndrome, referring to another researcher.
• Chromosomal disorder ( single sex chromosome X), which causes the development of Shereshevsky-Turner syndrome, was discovered only in 1959 by scientist C. Ford.
• This pathology is unique of its kind. The fact is that children are viable only in the absence of the second sex chromosome. If any other chromosome is missing, then the fetus does not develop at all after conception, or development begins, but the child dies in the prenatal period. Thus, Shereshevsky-Turner syndrome is the only option in which a woman lives with 45 chromosomes ( instead of the normal 46).

Causes of genetic pathology

As you know, every person is unique. This uniqueness is due to the presence of a specific set of genes. A gene is a special section in a DNA molecule that encodes information about chemical compounds in the human body. Total genome ( set of genes) contains approximately 20–25 thousand active genes. They are located on 23 pairs of DNA molecules. These molecules are a long chain, which, for ease of storage in the cell nucleus, is “packed” with special proteins. As a result of this compaction, the DNA chain turns into a chromosome. If it is necessary to synthesize any substance, part of the packaged molecule is unwound, and the information is read using special enzymes. The resulting compounds support the vital activity of the cell and allow it to perform its functions at the level of the organism as a whole.

Genetic diseases are those in which some damage to the DNA molecules has occurred. With relatively minor damage, the structure of a gene is disrupted. In this case, after the birth of the child, there is an absence or a reduced amount of any enzyme or cellular component. The symptoms, manifestations and severity of the disease are determined by which substance is missing.

With so-called chromosomal diseases the situation is much more difficult. Here, a violation of the structure is observed not at the level of an individual gene, but at the level of an entire DNA molecule. As a result, there is a deficiency or excess of many different substances. Most genetic mutations lead to the non-viability of the organism. The embryo simply dies, since defects in the DNA structure do not allow it to develop. There is a limited number of lesions that will allow a baby to be born.

As mentioned above, Shereshevsky-Turner syndrome is the only variant of viable monosomy. Monosomy is a defect in which an entire DNA molecule is completely or partially missing. Thus, the genome of the embryo is initially represented not by 46, but by 45 chromosomes. The uniqueness of the disease is explained by the fact that it is missing a less important sex chromosome.

All chromosomes can be divided into two types:

• Autosomes. Autosomes are the first 22 pairs of chromosomes. They encode most of the genetic information. Each of the autosomes contains genes without which the body simply cannot survive. That is why the absence of any of the 44 autosomes inevitably leads to fetal death in the prenatal period.
• Sex chromosomes. Sex chromosomes, unlike autosomes, are not always similar, although they are also conventionally combined into the 23rd pair. These chromosomes come in two types, which are conventionally designated X ( female chromosome) and Y ( male chromosome). These DNA molecules differ greatly from each other both in size and in the genes that are located on them. The Y chromosome is the smallest in the genome and contains only 429 genes ( of these, only 76 encode specific protein molecules). The presence of this chromosome in the genome is not necessary. It determines the development of the body according to the male type. If it is not there, development follows the female type.

Normally, female cells contain two X chromosomes. One of them is inactivated, forming the so-called Barr body, and the second is involved in the implementation of genetic information. If there is only one female sex chromosome, serious problems are observed even during embryonic development. Some of the embryos die and the pregnancy is terminated. The children born are the ones with Shereshevsky-Turner syndrome.

The following genetic variants of this disease exist:

• Complete absence of the second sex chromosome. This variant of the syndrome occurs most often ( in about 60% of cases). The single X chromosome is of maternal origin in almost 80% of cases. Since the second ( paternal) the chromosome is missing, development according to the female type is incomplete. Until the 3rd month of pregnancy, the ovaries of the embryo develop normally. However, then there is a gradual replacement of normal follicles ( cells from which eggs will form in the future) connective tissue. In addition, a number of malformations of other organs and tissues are observed. The complete absence of the second sex chromosome is considered the most severe variant of the syndrome. With it, the main signs and symptoms are most common.
• Mosaic option. The mosaic option is considered easier. With it, only a part of the body's cells contain one X chromosome. In other cells there are two sex chromosomes, and the second can be either X or Y. Sometimes there are patients with a third type of cell, containing three X chromosomes. The mechanism for the formation of such a mosaic is quite simple. After conception, embryonic cells begin to actively divide. At the same time, the genetic material is also divided between daughter cells. If at some point this separation does not occur, then some of the cells in the future will have an abnormal set of sex chromosomes. With the mosaic variant, the prognosis for girls is better. Severe malformations at birth are usually absent, and during puberty, problems with the menstrual cycle are not so pronounced. Typically, the phenotype ( appearance), characteristic of Shereshevsky-Turner syndrome, is still present, but the number of visible signs of this disease is less than with complete monosomy X.
• Structural changes of the X chromosome. In rare cases, Shereshevsky-Turner syndrome is diagnosed in women who actually have two X chromosomes. One of these chromosomes is severely damaged ( for example, most of it is missing). In this case, symptoms and signs characteristic of this disease appear, but they will be less than with the full form.

Knowing what the problem is with this disease, doctors are not always able to explain what led to the appearance of a defective genome. Specific mechanisms that influence the appearance of this pathology have not yet been discovered. It is believed that the risk of mutation increases when exposed to a number of external unfavorable factors.

The likelihood of having a child with Shereshevsky-Turner syndrome may be affected by:

• some genital infections suffered by a woman in the past;
• chemical factors ( environmental pollution, complex chemical compounds);
• physical factors ( strong electromagnetic and ionizing radiation);
• genetic predisposition;
• starvation or exhaustion of the body as a result of serious illness ( mainly in the period before conception).

In general, the appearance of monosomy X is currently treated as an “accident” that has no specific explanation and from which no one is immune. Thus, it is not possible to prevent the conception of a sick child or to carry out any specific preventive measures.

What do newborns with Shereshevsky-Turner syndrome look like?

The most common signs of Shereshevsky-Turner syndrome in newborns are:

• short body length;
• low weight;
• excess skin on the neck;
• "face of the sphinx";
• barrel chest;
• wide position of the nipples;
• valgus curvature of the elbows;
• developmental disorders of the ears;
• epicanthus;
• skin hyperpigmentation;
• curvature of fingers.

Short body length

Low weight

Excess skin on the neck

Edema

Swelling becomes more noticeable during the period when the child begins to walk. Under the influence of gravity, lymph accumulates in the feet and, less commonly, in the lower legs. If a child simultaneously has a congenital heart defect or anomalies in the development of large vessels, then edema can be very pronounced immediately after birth. Lymphedema in various forms occurs in more than half of newborns with Shereshevsky-Turner syndrome.

"The Face of the Sphinx"

Barrel chest

Flattening of the chest cannot be ruled out. It is also quite common. In this case, on the contrary, it seems that the child exhaled and the sternum moved closer to the spine. The cause of these anomalies is a defect in the development of the bones themselves that form the chest. With the barrel-shaped version, the ribs extend more horizontally from the spine ( normally they are directed forward and downward). In children with flattening of the chest, deformation of the thoracic vertebrae usually occurs.

With moderate anomalies in the development of the skeletal system, this symptom may become less noticeable with age. There is no specific surgical treatment for this defect, but, as a rule, it is not required. This does not cause serious problems with breathing or heart function.

Wide nipple position

Valgus curvature of the elbows

Ear developmental disorders

Epicanthus

Skin hyperpigmentation

Curvature of fingers

The most typical changes for this pathology are:

• clinodactyly of the little finger ( its curvature towards the ring finger);
• shortening of the metacarpal bones ( makes the palm wider and shorter);
• shortening of the IV and V fingers;
• reduced nails;
• syndactyly ( finger fusion) is less common than with other chromosomal diseases.

What do children with Shereshevsky-Turner syndrome look like?

Children with Shereshevsky-Turner syndrome may experience the following features:

• the appearance of moles;
• progressive lag in physical development;
• defects in dental development;
• functional disorders;
• sexual infantilism.

Appearance of moles

Progressive delay in physical development

Mental retardation

Dental defects

Functional disorders

The most common violations are:

• Sucking reflex disorder. This problem arises not only with the “Gothic” palate, which was mentioned above. Even in the absence of abnormalities in the development of the oral cavity, disturbances at the level of the nervous system can be observed. The child has poor muscle control.
• General anxiety. This violation has no specific manifestations. More often than not, parents characterize their child’s behavior in general this way. The child sleeps poorly, does not always respond to calls to him, and often cries for no reason. All these problems usually disappear in the first years of life, as the central nervous system develops and certain skills and reflexes are acquired.
• Regurgitation of food. After feeding, children regurgitate poorly digested food debris. This may indicate concomitant anomalies in the development of the digestive system ( narrowing or atresia of the esophagus). However, even without structural disorders, regurgitation is very common. The reason is that the muscles in the walls of the gastrointestinal tract ( Gastrointestinal tract) do not contract evenly and do not push through the food bolus well. Food stays in the stomach and sometimes regurgitates. At an older age, children, of course, no longer regurgitate food, but the same intestinal motility disorders can cause constipation.
• Late speech skills. Children with Shereshevsky-Turner syndrome begin to speak later than their peers. This is partly due to some mental retardation. This problem, however, occurs only in 15–20% of children.
• Urinary incontinence. This problem is also associated with impaired innervation. Enuresis ( sleep incontinence) can occur before primary school age. Over time it goes away.

Sexual infantilism

The main symptoms in girls during adolescence are:

• Anomalies in the development of the external genitalia. Normally, the differentiation of the external genitalia during puberty is caused by a high concentration of hormones. Girls with Shereshevsky-Turner syndrome do not have enough of them. Because of this, the skin of the labia is pale, more reminiscent of ordinary skin folds ( scrotal shape). The clitoris may be slightly enlarged. The entrance to the vagina is deformed and resembles a funnel, and the vagina itself has an elongated shape.
• Breast development abnormalities. Breast enlargement during adolescence is also caused by increased concentrations of sex hormones. In girls with this disease, the breasts practically do not enlarge. The nipples are reduced, somewhat retracted. The halo around the nipple, which is normally pigmented with melanin, becomes pale.
• Hair growth disorders of the skin. During adolescence, hair appears in the pubic area and armpits. In this case, it will be very poorly developed or absent altogether. Sometimes, due to a reduced amount of estrogen, there are signs of male pattern hair growth ( more hair on arms, chest, upper lip). The fact is that even in the absence of a Y chromosome, some tissues in the female body produce androgens ( male sex hormones). Normally, they are suppressed by high levels of estrogen, but this does not happen in patients with Shereshevsky-Turner syndrome.
• Dysmenorrhea. Dysmenorrhea, or menstrual irregularities, occurs in most patients. In some cases, there is no menstruation at all ( amenorrhea). This is explained by the fact that in the ovaries most of the follicles are overgrown with connective tissue. They do not mature and do not leave the organ ( no ovulation). The uterus and fallopian tubes are also poorly developed.
• Lack of psychological maturity. Lack of psychological maturity is often confused with a reduced level of intelligence. In fact, a delay in puberty leaves a certain imprint on the patient’s personality. They usually have poorly developed volitional qualities and have a “childish” frivolity when solving problems. However, intelligence as such at this age is practically normal. Girls can be emotionally unstable. All this sometimes creates obstacles to independent living. Psychological complexion also leaves a certain imprint. It is caused by visible differences from peers and a kind of “stigmatization” from others. As a rule, after 18–20 years, patients still successfully adapt to society.

What do adults with Shereshevsky-Turner syndrome look like?

The most characteristic differences in women with Shereshevsky-Turner syndrome are:

• Nanism. Dwarfism or dwarfism is a problem that occurs in 100% of patients with the full form of the syndrome. With milder forms, growth is still significantly below average. Most often it does not exceed 150 cm.
• Low weight. Patients with Shereshevsky-Turner syndrome are not prone to obesity. They do not gain weight well, despite intensive nutrition. This is explained not so much by short stature, but by the peculiarity of metabolism, which is established due to endocrinological problems.
• Geroderma. Geroderma is sometimes called premature skin aging. The first signs of this problem may appear in the first years of life, but symptoms are best seen in adults. Due to metabolic disorders, the skin becomes thinner. There is no fatty tissue underneath, which is why wrinkles appear earlier. The surface of the skin is dry, yellowish. In parallel, fragility of the nails and progressive hair loss, which are appendages of the skin, can be observed.
• Anomalies in the development of the genital organs and mammary glands persist. Characteristic changes were mentioned when describing the period of puberty.

In addition, adults retain many of the defects observed at birth. The shape of the ears, the bite of the teeth are often changed, and there is an oblique shape of the eyes. All these problems are cosmetic in nature, so doctors often do not pay attention to surgical correction. At the same time, adult women are characterized by completely adequate behavior and an average level of mental development. No deviations from the norm were noted in this regard.

Diagnosis of genetic pathology

• identification of risk factors;
• karyotyping of parents;
• ultrasonography;
• fetal karyotyping.

Identifying risk factors

Of greater importance is the analysis of the pedigree of the parents. It is also carried out in the form of a survey at an appointment with a geneticist. The purpose of the analysis is to identify cases of various genetic diseases in the family. It is recommended to consider ancestors up to the 3rd - 4th generation. If information about them is missing, the value of the analysis decreases. The risk is considered increased when there is a history of chromosomal diseases in the family. It also increases if women in the family often have spontaneous abortions. All this may indicate a defect in a gene that is present in all representatives of this genus. This defect predisposes to the formation of abnormal germ cells that have the wrong number of chromosomes. Pedigree analysis is considered a more accurate and specific test compared to the determination of other risk factors.

Karyotyping of parents

The procedure is a simple collection of venous blood. A cell culture containing genetic material is isolated from the blood. Typically lymphocytes are used for this purpose. After special processing of the resulting material, the preparation is examined under a microscope. A qualified specialist can easily detect chromosomes. He counts their total number and evaluates their shape. If there is any defect, the risk of having a child with a genetic pathology increases greatly. Since parents may be carriers of a mosaic form of a disease, a whole series of cells are examined.

Despite the prevalence of this method, it rarely reveals any violations. When there are defects in the chromosome set, there are almost always characteristic external manifestations. In addition, parents themselves usually know about the presence of genetic disorders. However, karyotyping is prescribed to all married couples in whose family there were cases of chromosomal diseases, or there were a large number of spontaneous abortions.

Ultrasonography

A standard examination program during pregnancy involves three ultrasounds. The first is carried out at 10–14 weeks, the second at 20–24 weeks and the third at 32–34 weeks. If risk factors are identified in a particular patient, the doctor may prescribe additional examinations. Each period can reveal its own characteristics, which may indicate the presence of a chromosomal disease. The sooner a chromosomal abnormality is detected, the easier it will be for doctors and the patient in the future. Doctors will be prepared for possible complications and will draw up a separate program for diagnosing and treating the unborn child in advance.

With Shereshevsky-Turner syndrome during pregnancy, the following abnormalities on ultrasound may be observed:

• thickening of the cervical-collar space;
• cervical hygroma;
• change in the shape of the skull;
• moderate renal hydronephrosis;
• fetal edema;
• deformation and shortening of limbs;
• heart defects;
• intrauterine growth retardation;
• oligohydramnios/polyhydramnios.

Fetal karyotyping

The problem lies precisely in the process of obtaining fetal cells. This requires a puncture ( invasive examination). A special needle is inserted into the uterine cavity through the anterior abdominal wall. Her movement is monitored by an ultrasound machine. Depending on what embryo tissue is taken for research, several diagnostic methods are distinguished.

Invasive procedures to obtain a fetal tissue sample are:

• amniocentesis, in which a small amount of amniotic fluid is removed;
• cordocentesis, in which a certain amount of blood is taken from the vessels of the umbilical cord;
• chorionic villus sampling, in which a sample of the embryo's membrane cells is taken.

The World Health Organization considers the following situations to be indications for invasive research:

• mother's age over 35 years;
• cases of abortion in a woman in the past ( at least 2);
• the birth of the first child with a chromosomal disorder or with multiple malformations;
• the presence of genetic or chromosomal rearrangements in one of the parents;
• one of the parents taking certain pharmacological drugs immediately before conceiving a child ( cytostatics, a number of antibiotics), or exposure to ionizing radiation during this period;
• deviations from the norm during ultrasound in early pregnancy.

Immediately after the birth of the child, it is much easier to confirm the diagnosis. In this case, it is no longer necessary to perform a complex puncture. Blood for analysis can be taken using a special thin needle. In addition, doctors immediately perform a detailed examination of the newborn. In this case, signs characteristic of Shereshevsky-Turner syndrome are detected ( retardation in height and weight, sphinx face, etc.).

However, after the birth of a sick child and confirmation of the presence of this pathology, diagnostic measures are not completed. To provide qualified assistance, doctors need to learn as much as possible about congenital malformations, which occur in almost all children. For this, a number of other diagnostic measures are prescribed.

After the birth of a child with Shereshevsky-Turner syndrome, the following studies are recommended:

• Ultrasound of internal organs. Ultrasound of internal organs can distinguish such congenital problems as obstruction of the gastrointestinal tract ( Gastrointestinal tract), hydronephrosis of the kidneys, abnormal development of the genital organs.
• Electrocardiography ( ECG) . An ECG is done to evaluate the functioning of the heart. The fact is that congenital heart defects are one of the most common problems in children with chromosomal diseases. If the ECG shows abnormalities, then an echocardiogram is prescribed.
• Echocardiography ( EchoCG) . This study allows you to see abnormalities in the development of the heart or large vessels. Essentially, the same ultrasound waves are used here as in an ultrasound machine. If we are talking about an operation to eliminate a heart defect, then an ECG and EchoCG may be re-administered to collect more detailed information about the pathology.
• Blood analysis. A blood test is taken to determine a number of standard indicators ( red blood cells, leukocyte formula, hematocrit, etc.). They reflect the state of many organs and systems. In case of congenital infections, inflammatory reactions or disturbances in the functioning of organs, certain changes immediately appear in the blood test. In addition to the standard indicators for newborns, children with Shereshevsky-Turner syndrome can have their hormone levels checked ( thyroid gland, somatotropin, etc.). Typical abnormalities are increased levels of gonadotropins and decreased levels of estrogens.
• Analysis of urine. Urinalysis, like a blood test, reflects to some extent the functioning of all internal organs. First of all, it is necessary to detect kidney problems, which also occur in children with this pathology. In addition, excess gonadotropins may be excreted in the urine.

In addition to the tests and examinations listed above, other diagnostic tests may be needed. The decision to conduct them is made by the attending physician, based on the child’s condition. In the first years of life, it is advisable to undergo an examination by an ENT specialist, ophthalmologist, neurologist, gynecologist and other specialized specialists. Their consultation will allow you to assess how the development of certain organs and systems is progressing.

During puberty and adulthood, repeated tests for sex hormones, thyroid hormones, and pelvic ultrasound may be required. They are prescribed in order to select the correct doses of drugs in the course of treatment.

Prognosis for children with Shereshevsky-Turner syndrome

Despite a favorable prognosis for life in general, it is necessary to take into account a number of congenital developmental anomalies. They greatly affect the quality of life of patients. In addition, patients with Shereshevsky-Turner syndrome have a certain predisposition to certain other diseases. In this regard, girls and women with this pathology require special attention from family, friends and, of course, doctors.

The following problems can affect the length and quality of life of patients:

• congenital heart defects;
• spina bifida;
• developmental anomalies of the genitourinary system;
• damage to the thyroid gland;
• decreased hearing and visual acuity;
• malignant neoplasms of the skin;
• psychological problems.

Congenital heart defects

The most common types of congenital heart and large vessel defects are:

• ventricular septal defect;
• atrial septal defect ( patent oval window);
• Fallot's triad;
• insufficiency or stenosis ( narrowing) heart valves;
• narrowing or expansion of the aorta;
• pulmonary stenosis;
• disorders of the cardiac conduction system.

Spina bifida

Anomalies of the development of the genitourinary system

The most common problems with the genitourinary system are:

• horseshoe kidney;
• duplication of the ureter;
• underdevelopment ( hypoplasia) kidneys;
• disturbance of urine outflow.

Damage to the thyroid gland

Infertility

Mental retardation

Decreased hearing and vision

Malignant neoplasms of the skin

Psychological problems

All this forms peculiar character changes. Many researchers note the isolation of women with this disease, a critical attitude towards their own appearance, increased irritability, and a tendency to neuroses. This explains the need for constant contact with such patients. Such contact facilitates their integration into society. For severe manifestations of depression, regular visits to a psychotherapist are recommended to provide qualified assistance.

The above health problems largely affect the prognosis for the newborn baby as a whole. However, it is safe to say that with the necessary care in childhood, as well as with support and qualified treatment in adulthood, most patients with Shereshevsky-Turner syndrome live quite normal lives.

Treatment of patients with Shereshevsky-Turner syndrome

The main drugs used in the treatment of Shereshevsky-Turner syndrome are:

• somatotropin;
• oxandrolone;
• estrogens.

Somatotropin

Oxandrolone

Estrogens

The main side effects during the above courses of treatment may be:

• liver dysfunction ( bile stagnation, increased levels of liver enzymes) – may occur during treatment with oxandrolone;
• headaches and nausea are common problems with estrogen replacement therapy;
• growth arrest occurs when estrogen treatment is started too early ( at 12 – 13 years old).

This method is currently practiced quite widely in special institutions. The reproductive technology that is used in this case is called in vitro fertilization ( ECO). If the patient has her own eggs, they become the primary genetic material. She is fertilized with sperm under special laboratory conditions. If the patient has no eggs at all, a donor egg can also be used. The embryo obtained from the fusion of an egg and a sperm is stored in special conditions for 3–6 days, after which it is transferred to the uterus. With adequate hormonal therapy, successful pregnancy is quite possible. If a woman wants to have more children in the future, then hormonal therapy with estrogen is continued throughout her childbearing years.

It should be borne in mind that embryos obtained from the eggs of a woman with this disease, although they contain a normal number of chromosomes, are still susceptible to a number of congenital developmental defects. According to statistics, when using the IVF technique in such cases, almost 40% of pregnancies are spontaneously terminated, and the risk of having a child with any structural abnormalities ( hernias, heart defects, etc.) is about 25%.

Thus, in recent years, significant progress has been made in the treatment of patients with Shereshevsky-Turner syndrome. There is no single standard for their management yet due to the wide variability of symptoms and individual deviations. However, competent medical care can easily help a woman live a full, happy life.

Chromosomal pathology caused by partial or complete X-monosomy. Clinical signs of Shereshevsky-Turner syndrome include short stature, hypogonadism, developmental defects (CHD, horseshoe kidney, strabismus, etc.), lymphostasis, joint deformation, wing-shaped folds of skin on the neck, etc. The decisive arguments in making the diagnosis of Shereshevsky-Turner syndrome are characteristic clinical signs features, data from the study of sex chromatin and karyotype; Prenatal diagnosis of pathology in the fetus is possible. Patients with Shereshevsky-Turner syndrome require hormonal therapy (growth hormone, sex hormones), correction of congenital malformations and aesthetic defects.

General information

Shereshevsky-Turner syndrome is a genetically determined primary gonadal dysgenesis that develops as a result of a violation of the sex X chromosome. 1 in 3,000 newborns are born with Shereshevsky-Turner syndrome, but the true population incidence of the disease is unknown, since spontaneous termination of pregnancy often occurs in the early stages. In the literature, this disease is found under various names - Shereshevsky-Turner syndrome, Shereshevsky syndrome, Turner syndrome, Ullrich-Turner syndrome - after the names of the authors who contributed to the study of pathology. Turner syndrome occurs in the vast majority of cases in girls; it is extremely rarely observed in boys.

Causes of Shereshevsky-Turner syndrome

The development of Shereshevsky-Turner syndrome is based on a structural or quantitative abnormality of the X chromosome. In more than 60% of cases, complete monosomy on the X chromosome is observed (karyotype 45, X0), i.e., the absence of a second sex chromosome. About 20% of cases of Shereshevsky-Turner syndrome are caused by structural rearrangements of the X chromosome: deletion of the short or long arm, isochromosome X along the long or short arm, X/X translocation, ring X chromosome, etc. In the remaining 20% ​​of cytogenetic variants, mosaicism occurs (45,X0/46,XX; 45,X0/46,XY, etc.). The mechanism of occurrence of Shereshevsky-Turner syndrome in men is explained by translocation or chromosomal mosaicism.

The risk of developing Shereshevsky-Turner syndrome in the fetus is in no way related to the age of the mother. The true causes of quantitative, qualitative or structural abnormalities of the X chromosome are a violation of meiotic chromosome segregation, leading to aneuploidy (with X-monosomy), or a violation of zygote fragmentation (with chromosomal mosaicism). In almost all cases with a 45.X0 karyotype, there is a loss of the paternal X chromosome.

The absence or structural defects of the sex X chromosome cause disruption of the formation of the gonads and numerous malformations of intrauterine development. Pregnancy with a fetus with Shereshevsky-Turner syndrome is usually accompanied by toxicosis, threat of miscarriage and premature birth.

Symptoms of Shereshevsky-Turner syndrome

Children with Shereshevsky-Turner syndrome may be born premature, however, even in the case of a full-term pregnancy, the child’s height and weight are often reduced (body weight 2500-2800 g, length 42-48 cm). Already at birth, the child may show typical signs of Shereshevsky-Turner syndrome: a short neck with folds of skin on the sides (pterygium syndrome), congenital heart defects, lymphostasis, swelling of the feet and hands, etc. During the newborn period, such children are characterized by impaired sucking, motor restlessness, frequent regurgitation. At an early age, children with Shereshevsky-Turner syndrome are characterized by delayed physical development, delayed speech development, and frequent recurrent otitis media, leading to conductive hearing loss.

By the time of puberty, the height of patients is 130-145 cm. In addition to short stature, the typical appearance is characterized by a short neck with wing-like folds, a “sphinx face”, a low hair growth limit, micrognathia, deformation of the auricles, and a wide chest. Changes in the osteoarticular system in patients with Shereshevsky-Turner syndrome can be represented by congenital hip dysplasia, deviation of the elbow joints, and scoliosis. Early development of osteoprorosis due to estrogen deficiency causes a high incidence of fractures of the wrists, spine, and femoral neck. Disorders of the craniofacial skeleton include micrognathia, high Gothic palate, and malocclusions.

The most common cardiovascular defects accompanying Shereshevsky-Turner syndrome are VSD, patent ductus arteriosus, coarctation of the aorta, and aortic aneurysm. From the urinary system, patients may experience the presence of a horseshoe kidney, doubling of the pelvis, stenosis of the renal arteries, leading to arterial hypertension. Developmental disorders of the visual system in Shereshevsky-Turner syndrome in most cases are represented by ptosis, strabismus, myopia, and color blindness.

Intelligence is usually preserved; in rare cases, oligophrenia is observed. Among the concomitant diseases in people with Shereshevsky-Turner syndrome, hypothyroidism, Hashimoto's thyroiditis, vitiligo, multiple pigmented nevi, alopecia, hypertrichosis, diabetes mellitus type 1 and 2, celiac disease, obesity, and coronary artery disease are usually detected. Patients with Shereshevsky-Turner syndrome have a significantly increased risk of developing colon cancer.

The leading symptom of Shereshevsky-Turner syndrome is primary hypogonadism (sexual infantilism), which is detected in almost 100% of patients. The ovaries are represented by bilateral fibrous cords that do not contain follicles; hypoplasia of the uterus is noted. Sometimes rudimentary ovaries with ovarian stroma and individual primordial follicles are found. The labia majora have a scrotal appearance; The labia minora, clitoris and hymen are underdeveloped. With Shereshevsky-Turner syndrome, primary amenorrhea, underdevelopment of the mammary glands, non-pigmented inverted nipples, scant axillary and pubic hair are noted. In the vast majority of cases, women with Shereshevsky-Turner syndrome suffer from infertility, however, with mosaic variants, conception and pregnancy are possible.

In men with Shereshevsky-Turner syndrome, in addition to characteristic external signs and somatic defects, testicular hypoplasia, bilateral cryptorchidism, sometimes anorchia, and low testosterone levels are noted.

Diagnosis of Shereshevsky-Turner syndrome

In newborns, Shereshevsky-Turner syndrome can be suspected by a neonatologist or pediatrician by the presence of a pterygoid fold of the neck and lymphedema. In the absence of obvious external signs, the diagnosis is often established only in puberty on the basis of short stature, absence of menarche, and lack of expression of secondary sexual characteristics.

When studying hormone levels, an increase in gonadotropins and a decrease in estrogen in the blood is determined. Of decisive importance in the diagnosis of Shereshevsky-Turner syndrome is the determination of sex chromatin and the study of karyotype. If characteristic signs of Shereshevsky-Turner syndrome are detected in the fetus according to obstetric ultrasound, the issue of conducting invasive prenatal diagnostics is decided.

Patients with Shereshevsky-Turner syndrome need consultation with a geneticist, endocrinologist, cardiologist, cardiac surgeon, nephrologist, ophthalmologist, otolaryngologist, lymphologist, gynecologist-endocrinologist (women), andrologist (men). To detect congenital defects and concomitant diseases, echocardiography, MRI of the heart, ECG, ultrasound of the kidneys, radiography of the spine, densitometry, radiography of the bones of the feet and hands, etc. are recommended. As part of the diagnostic examination, women undergo a gynecological examination, exercise therapy, vitamins, good nutrition, and a protective regime .

In order to increase final height, recombinant growth hormone (somatotropin) is prescribed in the form of daily subcutaneous injections until the patient reaches bone age 15 years and the growth rate decreases to 2 cm per year. In most cases, growth-stimulating therapy helps patients grow to 150–155 cm. It is recommended to combine growth hormone treatment with anabolic steroid therapy.

To simulate normal puberty, estrogen replacement therapy is prescribed from 13-14 years of age, and after 12-18 months, cyclic therapy with estrogen-progestagen oral contraceptives. Hormone replacement therapy is carried out until the age of natural menopause in healthy women (up to approximately 50 years). Men with Shereshevsky-Turner syndrome are prescribed HRT with male sex hormones.

For hemodynamically significant congenital heart defects, surgical correction is performed. Elimination of pterygoid folds of the neck is carried out using plastic surgery methods.

Once they reach an adequate level of sexual development, women with Shereshevsky-Turner syndrome can have children through IVF, using a donor egg. In the presence of short-term ovarian activity, it is possible to use one’s own oocytes for fertilization. The problem of excess hair growth is solved with hair removal.

Forecast and prevention of Shereshevsky-Turner syndrome

In general, Shereshevsky-Turner syndrome does not have a significant effect on life expectancy. The exception is cases of severe congenital heart disease, early development and decompensation of concomitant diseases. With adequate treatment, patients with Shereshevsky-Turner syndrome are able to create families and lead a normal sex life, but most of them remain infertile.

Considering the polymorphism of manifestations of Shereshevsky-Turner syndrome, the management and observation of such patients is carried out by specialists in the field of genetics, pediatrics, endocrinology, gynecology, andrology, urology, cardiology, ophthalmology, etc.

The only possible methods of preventing the birth of a child with Shereshevsky-Turner syndrome can be medical genetic counseling and prenatal diagnosis.

Shereshevsky-Turner syndrome (dysgenesis, agenesis, gonadal aplasia, Turner, Ullrich, Bonnevie-Ulrich syndrome) is characterized by severe sexual infantalism, short stature and a number of somatic changes.

The syndrome was first described in 1925 by N.A. Shereshevsky, in 1934-1935 by W. Bonnevi, H. Ullrich, in 1938 by S. Turner, who defined this disease as “infantilism syndrome with congenital webbed neck and valgus forearm." The frequency of the syndrome in newborns is 1: 3300.

Etiology and pathogenesis. This disease is a consequence of various abnormalities in the chromosome set, most often resulting from nondisjunction of sex chromosomes in the mother or father, disturbances in the mitotic division of the fertilized zygote, and the absence of the short arm of one of the two X chromosomes.

The typical clinical picture is associated with the 45,XO karyotype. The issue of correlation between karyotype and phenotype is discussed. Analyzing the results of an examination of monozygotic twins with Shereshevsky-Turner syndrome, they indicate a significant connection between the number of cells with abnormal sex chromosomes in the body, the severity of somatic manifestations and hormonal disorders [Zarubina N. A. et al., 1975].

There is also an opinion that the variety of chromosomal aberrations does not affect the clinical picture. According to him, in 42 patients with Shereshevsky-Turner syndrome, there was no difference in the frequency of clinical symptoms depending on the karyotype.

The greater variability of the phenotype is explained by the frequent mosaicism of 45X/46XX, 45X/46XY, 45X/47XXX. A rather rare mosaic karyotype 45X/47XYY has been described in a woman with classic Turner syndrome. Both cell lines are present in peripheral blood in approximately equal proportions. However, in skin fibroblasts and in both gonads, only cells with the 45X karyotype were present. It is believed that mosaicism is the result of nondisjunction of the Y chromosome in the early stages of cleavage of the normal XY zygote.

The main symptoms of Shereshevsky-Turner syndrome are more common in individuals with a female phenotype, but clear clinical manifestations of the syndrome have also been described in individuals with a male phenotype. By analogy with the typical form of the disease, this condition in men was called “male Turner syndrome.” This form of pathology occurs 15 times less frequently than the classic manifestations of the syndrome in the female phenotype. Sexual development in male Turner syndrome can vary from almost normal to sexual insufficiency of varying severity. It is believed that Turner syndrome in men may be associated with 46XY/45X mosaicism. Turner syndrome in girls and boys with a normal set of chromosomes is called Noonan syndrome. Inheritance occurs according to an autosomal dominant pattern, but sporadic cases also occur. Along with the typical symptoms of Turner syndrome, there are normal ovarian function and the menstrual cycle in girls, and correctly formed genitals in boys.

One of the main clinical manifestations of Shereshevsky-Turner syndrome is premature aging, signs of which appear as early as 15-17 years. The decisive role in the general mechanisms of aging, according to modern concepts, belongs to the aging of connective tissue. Numerous clinical and radiological data indicate various disorders of connective tissue, especially the skeletal system, in human chromosomal diseases. Patients with Shereshevsky-Turner syndrome exhibit pronounced changes in the skeletal system: growth retardation, delayed skeletal differentiation, abnormal bone development, and varying degrees of osteoporosis. Skeletal development is especially inhibited in the prepubertal and pubertal periods.

Clinical symptoms. Children's birth weight is usually less than normal. In newborns, lymphatic edema of the feet, legs, hands, and skin folds on the neck is noted.

Growth retardation is possible at different ages, in some cases from birth. Some children grow normally for several years. Growth retardation is especially noticeable during puberty. The height of patients with Shereshevsky-Turner syndrome rarely reaches 150 cm and, according to various authors, ranges from 114 to 145 cm. In some cases, short stature of a child becomes a reason to consult a doctor.

On examination, general dysplasticity is noted. Children appear stocky due to a low-set head, short neck, barrel-shaped chest with widely spaced nipples and an indentation in the sternum ("thyroid chest"). A short neck with a wide base, a low border of hair growth on the back of the neck, wing-shaped skin folds from the back of the head to the shoulder girdles give the patient a characteristic appearance (“sphinx neck”) (Fig. 61).

The faces of patients are peculiar and have common features as a result of micrognathia, retrognathia, ptosis, epicanthus, deformation and low position of the ears. The brain skull is relatively large, the facial skull is smaller, which, combined with micrognathia, gives the head a triangular shape.

Valgus deviation of the elbow and knee joints, shortening of the metacarpal and metatarsal bones, and deformation of the nails deeply seated in the nail bed are often observed.

There are many pigment spots and vitiligo on the skin. A slight swelling of the fingertips in the form of “pads” is detected.

Malformations of the internal organs are often encountered - coarctation of the aorta, non-closure of the interventricular septum and ductus arteriosus, stenosis of the aorta, pulmonary artery, dextrocardia, horseshoe kidney, double pelvis and ureters, rotation, hypoplasia of the kidney. Kidney malformations in most cases remain asymptomatic.

Severe mental retardation in patients with Shereshevsky-Turner syndrome is rare, but on average their intelligence is slightly reduced. Typically, patients can study in a regular school, but they show a kind of mental infantilism; they are distinguished by suggestibility combined with solidity, homeliness, and a tendency to take care of others.

Sexual infantilism clearly manifests itself at puberty. In most patients during this period, secondary sexual characteristics do not appear: the mammary glands do not develop, secondary hair growth is absent or very sparse, the labia, vagina and uterus are sharply underdeveloped. The mucous membrane of the vulva and vagina is dry, its epithelial cover is thin. The opening of the urethra is located low. The clitoris is occasionally enlarged.

Diagnosis and differential diagnosis. The clinical picture of the disease in its severe form is quite typical, and diagnosis is not difficult. However, erased forms of the syndrome are more common. In such cases, a doctor is consulted late due to short stature and delayed sexual development. Growth retardation is an obligate symptom of the disease and is often noticeable in childhood, in the first years of a child’s life, and in the puberty period it becomes especially pronounced. There is no pubertal growth spurt, body length reaches only 134.8-152 cm (average 143.3 cm).

The weight of children corresponds to the length of the body, and in adults it is sometimes excessive. Short stature is often proportional; sometimes the size of the lower half of the body is larger than the upper half.

Palpation examination gives an idea of ​​the condition of the internal genitalia. In such cases, during rectal examination, the uterine appendages are usually not palpable, the uterus is infantile, sometimes rarely hypoplastic.

X-ray examination has a certain diagnostic value. Radiographs of the hands and wrist joints show a lag in bone differentiation (bone age in adolescence lags behind chronological age by 2-4 years). There is hypertrophic osteoporosis with a defect of bone substance in the form of cysts with clear boundaries. The shape of the vertebral bodies is changed, sometimes to the point of their destruction. Osteoporosis is detected in the spongy bones of the pelvis, spine, skull, in the epiphases and metaphyses of tubular bones. Sometimes there are changes such as osteochondrosis, exostosis, pathological synostosis. Characterized by shortening of the IV-V metacarpal bones, deformation of the wrist joint according to the Madelung type.

Craniograms often show hyperpneumatization of the sinus of the main bone, slowdown or absence of pneumatization of the temporal bone.

Pneumopalviograms reveal a sharply hypoplastic uterus and cords at the locations of the ovaries.

Hormonal examination allows us to judge the functional state of the endocrine glands. A study of gonadotropic hormones in Shereshevsky-Turner syndrome revealed an increase in gonadotropic activity, especially FSH in prepubertal patients (9-13 years). The maximum amount of activity is observed by the age of 16-17 years. LH secretion had the same pattern, but its level was usually only 1/2 - 1/10 of the FSH level. The authors explain the similarity of gonadotropin secretion in sick and healthy young children by the absence of a significant role of the gonads in the secretion of gonadotropins. This can be until the onset of puberty.

Gonadotropic activity in Shereshevsky-Turner syndrome is characterized by a sharp increase in the level of LH and FSH with frequent chaotic desynchronized fluctuations. A decrease in LH levels during estrogen therapy indicates the persistence of feedback in the pituitary-gonadal system in Shereshevsky-Turner syndrome, which confirms the need for estrogen therapy not only for the purpose of feminizing patients with gonadal agenesis and dysgenesis, but also to suppress their inherent increased hypothalamic activity. Estrogen excretion is low, as indicated by atrophic type vaginal smears. Urinary excretion of 17-KS and 17-OX in most cases corresponds to the age norm, but sometimes a decrease in 17-KS is observed.

In patients with Shereshevsky-Turner syndrome, a slight increase in the level of growth hormone is detected, which indicates reduced sensitivity to growth hormone in this disease.

Possible tissue insensitivity to thyroid hormones in patients with Shereshevsky-Turner syndrome is indicated by an increase in the titer of thyroid antibodies, the level of SBI, and the absorption of 1311 by the thyroid gland.

When studying carbohydrate metabolism, many patients with Shereshevsky-Turner syndrome experience a decrease in glucose tolerance. The glycemic curve is in most cases questionable or diabetoid.

Cytogenetic research is fundamental in the diagnosis of Shereshevsky-Turner syndrome. With a typical clinical picture, a karyotype of 45X or mosaicism of type 45X/46XX is most often determined. Sex chromatin in the buccal epithelium is absent or sharply reduced.

Gender selection issues. Patients with Shereshevsky-Turner syndrome are assigned female gender at birth, since the external genitalia are formed according to the female (neutral) type, which is beyond doubt.

Methods of hormonal treatment. Treatment of patients with Shereshevsky-Turner syndrome is aimed at stimulating growth and reducing sexual infantilism. Before puberty, in order to stimulate growth, anabolic steroids are recommended - Nerobolil, Retabolil in age-appropriate doses in intermittent courses (4-6 courses with an interval of 2-3 months). If growth slows down, a change in drug is indicated. Treatment to stimulate growth is carried out up to 13-14 years. When treating with anabolic steroids, radiological monitoring of ossification is necessary.

It is recommended to start sex hormone replacement therapy at the age of 13-15, so that growth zones close as late as possible. The goal of sex hormone replacement therapy is the formation of a female phenotype, the development of secondary sexual characteristics and genital organs, the creation of the possibility of sexual activity, the prevention of metabolic disorders and hypothalamic pathology.

The use of oral medications is preferable, since the treatment is long-term. However, in case of poor tolerability and low effectiveness, long-acting drugs (estradiol dipropionate, estradiol benzoate, dimesterol) are prescribed parenterally. At the first stage, treatment begins with estrogens, and later, when the mammary glands, external and internal genital organs develop, bihormonal therapy with estrogens and gestagens becomes necessary, imitating the natural two-phase cycle. Before the appearance of induced menstruation, estrogen treatment is carried out in a cyclic manner or continuously. Currently, continuous estrogen therapy is preferred [Golubeva I.V., 1980]: sinestrol 0.01 g (1 tablet) daily, microfollin forte 0.05 mg (1 tablet) daily. During cyclic replacement therapy, microfollin is prescribed, 1 tablet from the 5th to the 26th day of the cycle.

For bihormonal therapy, use microfollin-forte 0.05 mg (1 tablet) from the 5th to 20th day of the cycle, pregnin 0.01 mg (1 tablet) 3 times a day sublingually from the 21st to 26th day of the cycle. Instead of pregnin, you can prescribe a prolonged gestagenic drug (1 ml of a 12.5% ​​solution of oxyprogesterone capronate). A good effect is achieved by replacement therapy with bihormonal drugs (infekundin, bisecurin), containing a combination of estrogens with synthetic progestins: infekundin 1 tablet per day from the 5th to the 26th day of the cycle. On the 14th day of taking infecundin, oxyprogesterone capronate is prescribed, 1 ml of a 12.5% ​​solution intramuscularly.

Complications of replacement therapy: individual intolerance to the drug, relative hyperestrogenization (mastopathy, prolonged menorrhagia). In such cases, treatment should not be stopped. Changing the drug, switching to treatment with parenteral drugs, adding gestagens eliminates complications.

Long-term observations and treatment of patients with Shereshevsky-Turner syndrome (more than 20 years) suggest the high effectiveness of such replacement therapy. As a result of treatment, sufficient feminization of the phenotype is achieved. The development of secondary sexual characteristics in patients has a beneficial psychological effect and allows them to start a family.

Social rehabilitation. Most patients with Shereshevsky-Turner syndrome graduate from regular public school and may have high intellectual development.

Shereshevsky-Turner syndrome

Since ancient times, there has been a group of diseases whose origin was considered mystic or a curse. Indeed, in those days, humanity could not yet explain why children were born with obvious developmental disabilities. Only in the last century have scientists managed to achieve success in their description, diagnosis and justification. Today these diseases are called genetic. The leading position among them is occupied by Shereshevsky-Turner syndrome. Despite all the advances of science, it is becoming one of the serious causes of female infertility.

Shereshevsky-Turner syndrome: what is it?

When talking about this disease, we mean the genetic pathology of female individuals in the form of a chromosomal abnormality, in which one of the X chromosomes is either absent or qualitatively defective. At the time when this disease was first described, it exclusively implied the presence of a single sex chromosome, which is a classic variant of the disease. Only with the introduction of modern genetics methods was it possible to describe several more types of this syndrome, in which a second X chromosome is present, but it is so altered that it cannot normally encode genetic information.

Shereshevsky-Turner syndrome is considered a complex pathology. But this is the only monosomy (diseases in which one chromosome is missing) that does not lead to intrauterine death of the fetus. A girl, and later a woman, can live with this disease, since there are no immediate threats. The exception is cases of severe anomalies associated with this syndrome. The main problem of Shereshevsky-Turner syndrome lies in the qualitative organic and functional inferiority of the female body. At the same time, a woman cannot feel like a real woman, since the main target of pathology is the feminine principle. The absence of one of the sex chromosomes leads to the fact that there are no genes and codons that would trigger the normal growth of the female body and the formation of secondary sexual characteristics. As a result, absolute infantilism, a masculine type of constitution and persistent infertility.

Important to remember!!! Shereshevsky-Turner syndrome belongs to a group of genetic, but not hereditary diseases. In its origin, the main role belongs to mutations of the sex X chromosomes, which arise in the gonads of the parents.

Shereshevsky-Turner syndrome: causes of occurrence

The central mechanism for the manifestations of the syndrome is considered to be a disruption in the process of joining the parental X chromosomes during the formation of the fertilized egg after conception. In this case, a failure occurs in which one of them is either lost among many chromosomes, or a certain part of it is destroyed (loss of the short, long or both arms of the chromosome, its small size or ring-shaped shape).

The most interesting thing is that scientists have not been able to fully determine why such a chromosomal anomaly occurs. It has been noted that the pathology does not depend on the age of the mother. It is believed that the abnormal sex chromosome occurs before conception and is passed on to the child from the father. This means that a complicated pregnancy and harmful effects on a pregnant woman cannot cause the disease. The problem occurs much earlier, but it is not known exactly why. The only thing that reliably occurs is a severe pregnancy with the development of the threat of miscarriage and toxicosis if the fetus has this chromosomal abnormality.

What are the symptoms and signs of Turner-Shereshevsky syndrome?

Clinical manifestations of X-monosomy syndrome are very diverse and vary in severity. It all depends on the karyotype and changes in one of the sex chromosomes. In some cases, the disease is easily detected immediately after the birth of the child. But very often they begin to think about it only when the girl begins to lag behind in development, especially in sexual development.

Typical symptoms included in Shereshevsky-Turner syndrome, which will occur in any case of this disease, are given in the table.

Important to remember!!! It is advisable for all girls with delayed sexual development to undergo a karyotype study to exclude mosaic forms of Shereshevsky-Turner syndrome.

Shereshevsky-Turner syndrome karyotype

A karyotype is the chromosome set of a person. With Shereshevsky-Turner syndrome, it can be represented by the following options:

1. Classic karyotype (45 X0) or true monosomy;
2. Ring-shaped X chromosome (46 XR(X));
3. Mosaic variants of chromosomal abnormalities:

• Various deletions of the long and short arms (46 X Chr; 46 X Xq);
• (46 Xi(Xq); 46,X,i(Xp)) or isochromosomes;
• 45 X/46 XY – male type of karyotype.

What do all these numbers and letters mean? The numbers usually indicate the number of all chromosomes, and the letters X, Y indicate the sex chromosomes. Small letters next to them indicate different variants of anomalies in the presence of both chromosomes. A girl must have two X chromosomes. In Turner syndrome, as can be seen from the karyotype variants described, one X is complete, and the second is completely absent or acquires various abnormal variants.

Studying the karyotype is not difficult. Today, this is done by genetics and reproductive centers. To conduct the study, about 20 ml of venous blood is collected from the patient. After it settles, lymphocytic cells are released, which are forced to divide under artificial conditions. At one of the phases of mitosis, the process stops, and smears of lymphocytes are stained and studied in detail under a high-resolution electron microscope. This is the only way to see a person’s chromosome set and reliably establish a diagnosis.

Shereshevsky-Turner syndrome mosaic form

Mosaic variants of the syndrome occur in 30-40% of cases of the total number of such patients. These forms are characterized by varying degrees of sexual deviations. The only thing that always occurs is irreversible changes in the ovaries, which will never be able to perform their function of synthesizing hormones. But this problem can be solved by prescribing hormone replacement therapy with estrogen preparations.

As for other clinical manifestations of mosaic types of Shereshevsky-Turner syndrome, they are very diverse. They can be represented by both mild disorders and developmental deviations, and severe anomalies of the heart and large vessels, and dysplastic processes in the kidneys. Sometimes they are incompatible with life.

Pregnancy with Shereshevsky-Turner syndrome

The issue of pregnancy with this disease can be considered in two contexts:

1. Possibility of pregnancy in such patients. In the classic version, reproductive function is not possible under any circumstances. With various variants of chromosomal mosaicism and phenotypic inferiority of a woman, which is limited only by underdevelopment of the ovaries, pregnancy becomes possible. The main condition is the relatively normal condition of the uterus. You can get pregnant and carry a child to term only through artificial implantation of an embryo from a donor egg into the uterus. This is a very difficult process that will not always be successful;
2. The course of pregnancy in a healthy mother with Shereshevsky-Turner syndrome in the fetus. In most cases, it is complicated by early and late toxicosis, threat of miscarriage and miscarriages.

Turner syndrome in the fetus

It is quite possible to detect the disease during intrauterine development. From the very beginning of gestation, tissue differentiation is disrupted. Data from routine ultrasound scans during pregnancy, which determine fetal developmental delays, a decrease in basic parameters and sizes, and anomalies of internal organs, can lead one to think about the disease. If differential diagnosis is necessary, a study of the child’s karyotype is prescribed. This procedure is extremely dangerous, as it is accompanied by invasion into the amnion cavity to collect amniotic fluid (amniocentesis) or umbilical cord blood (culdocentesis). The appropriateness of this procedure should be decided by specialists, comparing the risks and benefits of possible early diagnosis of this or other types of genetic pathology.

Children with Shereshevsky-Turner syndrome

Disorders of intrauterine development of the fetus with X-monosomy progress after birth. Such newborns are born with low weight and short body length, excess skin hair, swelling of the hands and feet, and a short neck with additional folds. Such children are restless and lag behind in terms of physical, psycho-motor and speech development. These features persist throughout childhood. Characterized by persistent short stature. Mental abilities are also affected. Puberty is delayed and completely absent if treatment is inadequate. Secondary sexual characteristics do not develop.

Turner syndrome and society

The incidence of the syndrome is one case per 2-5 thousand newborn girls. Persons with monosomy of sex chromosomes require social adaptation in society. This is a complex problem that requires large financial and psycho-emotional costs. From early childhood, the child feels inferior due to developmental delays and short stature. Girls in puberty develop complexes about the underdevelopment of secondary sexual characteristics (lack of mammary glands, normal hair growth in typical places, female body type). For a long time they continue to remain children with an infantile perception of the world in adulthood. Naturally, all this leaves its negative imprint on the development of the individual. Therefore, it is important to inform the population about the presence of genetic pathology, so that each person can correctly perceive such patients, understanding their problem, and not considering inferiority. Teaching society such a culture will make the lives of sick people much easier.

Important to remember!!! Social rehabilitation is one of the most important elements of a full life for patients with chromosomal abnormalities.

People and life with Shereshevsky-Turner syndrome

The state and the public must realize that patients with X chromosome monosomy are ordinary people. After all, no person can be protected from the birth of children with Shereshevsky-Turner syndrome. No one should treat them with prejudice or judge their professional abilities based on their appearance. The most important thing for such women is to feel that they are needed in society. As a rule, they strive for this by being very conscientious workers. It is difficult for them to perform work associated with mental stress and occupy leadership positions.

To adapt patients, the state is obliged to develop social programs that will facilitate their employment and maximum adaptation to the life familiar to a healthy person. Unfortunately, if professional and other types of adaptation are partially possible, then reproductive opportunity in more than 97% of cases becomes unattainable. Patients themselves must be aware of this. They must realistically assess their capabilities and not strive, no matter what, to have children.

The public has a responsibility to help people with X monosomy by:

1. Creation of social programs;
2. Development of technologies and projects for early detection of the disease;
3. Financial assistance;
4. Creation of specialized centers that will deal exclusively with the problems of such patients;
5. Searching for causes and developing methods for preventing the disease.

Shereshevsky-Turner syndrome: disability

All patients with Shereshevsky-Turner syndrome are subject to medical and social examination with mandatory determination of the disability group. This could be any of the groups. Everything depends on the patient’s ability to independently care for his basic life needs, the need for outside care, and professional adaptability. All existing deviations in the body and anomalies that are accompanied by organ failure are taken into account.

Treatment of Shereshevsky-Turner syndrome

X-monosomy syndrome is very difficult to treat. All that remains is to artificially replace the functions missing in the body that should have been given by nature. In some cases, competent treatment brings very impressive results. In girls, phenotypic signs improve in the form of breast growth and normalization of the structure of the uterus, which is important for eliminating the cause of infertility.

The treatment complex may include:

• Early administration of somatotropic hormone (growth hormone) drugs - somatotropin, genotropin, saizen, jintropin;
• The use of estrogen drugs from the age of 12, which will trigger the processes of puberty (estradiol, Novinet, Poginova, etc.);
• Surgical correction of cosmetic defects and malformations;
• Psychotherapy and psychological assistance;
• Reproductive technologies for the possibility of childbearing (artificial insemination with implantation of a donor egg);

Important to remember!!! Treatment of Shereshevsky-Turner syndrome should begin as early as possible. It involves long-term use of hormonal drugs, and sometimes lifelong.

Don’t focus on problems, or rather, stop talking about them altogether, stop complaining (a very good way is to put a hair tie on your hand and change it to the other hand as soon as you complain. Try to make sure that the rubber band stays on one hand, although would be 21 days). Don't criticize those who continue to complain, just talk about the good things or remain silent! Let there be more and more good things so that you have something to talk about!
Breathe life deeply. Do something at least once a week that you have never done before. Find a hobby for yourself (or for your special children)! Start drawing, singing, dancing!
If you really want to support each other: organize an exhibition of paintings, a beauty or handicraft contest (which can also be held on the Internet), an Olympics (either sports or intellectual)!
Start being proud of yourself and your features. Fill your life with new proverbs (such as “Small women are created for love, and big women are created for work”), make your own dating site, where do not hide, but emphasize your features! You will see how many men are not intimidated, but rather attracted by your height! Write poetry! Do a show! Take part in the X-Factor! Let “normal” people envy you! Engage in creativity and bodily practices! Give your body new experiences and sensations in yoga, sports, massage, sex and enjoy them!
If you have a chance to have children, try. If not and cannot be, accept it! It may even be worse if there was a chance, and then it was gone (but even in this case, everything can be changed. Watch the movie "Soul Surfer", based on real events). Don't consider this impossibility a disadvantage. Don't fight windmills! Imagine, for example, that you were destined to “die in childbirth,” and your guardian angel stood up for you and thus protected you, eliminating the very possibility of childbirth. Remember the movie "Signs"! Come up with a story for yourself about what benefit you received or what misfortune you avoided when God gifted you with this feature! Exactly gifted! Imagine, for example, that there was a choice: either not to be born at all, or to be born, but pay for it with some feature of the body... What would you choose? Come up with a story for yourself or for everyone... Believe in it! And if it makes you stronger and happier, it is in any case better than what you previously called “truth”!
God gave you a body to survive, and a soul and mind to LIVE! Denying this is akin to suicide!
Think about how many children cry into their pillows in orphanages, dreaming of their mother’s affection! How much they would love you, looking at you like a goddess and being afraid to let go of your hand for fear of losing you! Think about what you are depriving yourself and them of! Imagine how you would drown in the arms of your adopted mature son, who tenderly calls you his “little mommy,” when your strength is already diminishing and you want peace and care.
Those who say that “I cannot take a child from an orphanage, even if I most likely cannot have my own,” can safely change this statement to “I do not want to have children.” It will be more honest.
The happiness of motherhood is not in “giving birth to a child,” but in “giving him LIFE.” Many who give birth do not know this happiness. Many mothers prefer to remain just a “biological container”, believing that their mission ends at birth and feeding.
But it seems to me that the happiness of pregnancy and birth are only preferable, but not obligatory signs of true motherhood. Did you know that there are no orphanages in Muslim countries? There are no other people's children there! Any child will be taken in by relatives or friends if he is left alone! There are no “strange” children there! Maybe that's why they stand for each other so much?

If you still continue to consider your peculiarity a misfortune, then think: What can you teach your children and what kind of LIFE can you give them if you don’t want to love and fill your own with happiness? Your attitude towards life will become a model for them.
Look for stories about special people who have achieved happiness, success, and victories! If your children have developmental disabilities, tell them these stories with gusto, be proud of them, that they are not part of the gray mass, but have unique characteristics that certainly accompany special skills and talents!
Love yourself! Love your uniqueness and difference! Yes, it is survival of the fittest, and if you are alive, it means the Universe has chosen you for some special mission or talent! That means you are the strongest! Just find it in yourself instead of feeling sorry for yourself!
I believe in each of you, maybe now even much more than you believe in yourself!
I love all of you and wish you not to try to argue with me and look for counter-arguments (and you will definitely find them!) but to simply love yourself completely and unconditionally!

For those to whom my words seem harsh, I will say right away: looking at the world in a new way, learning something new is always more difficult than following a well-worn path! Any new environment is perceived as hostile until you master it! Those who prefer to leave everything as it is and always be in the zone of comfort, calm and confidence will never learn anything!
Almost all schoolchildren do not like teachers and lessons, but then are grateful to them.

If you didn't find anything useful in my letter, just ignore it as spam. I will not enter into polemics with anyone, but rather will continue to help those who expect and appreciate it.
If at least one of you grows wings and something changes in your life, my work will no longer be in vain and I ask you to tell me and others about this result! Always share only the good! After all, what you share is what you want to see in your world!
And I am sure that there will be such, since every day I receive reviews from people who have changed their attitude towards life after reading “P.Sh.”, in which I was as sincere as I am now in this letter.

For those who are from St. Petersburg or are ready to come there: accept my invitation to a master class on oil painting, which I am ready to organize and conduct for you free of charge (I will provide all materials). You need to recruit a group of 5-8 people.
I can also help in organizing a painting competition or exhibition. Find me on VKontakte or on the website www.khara.ru.

With love, Dmitry Khara.