Treatment of Shereshevsky Turner. Mental retardation

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

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

Causes of Shereshevsky-Turner syndrome

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

In approximately 60% of all cases, complete monosomy is diagnosed, i.e. loss of the second half of the X chromosome (karyotype 45,X0), and there is an absence of the paternal chromosome. That is why in most cases the disease occurs in girls, since boys receive a Y chromosome from their father. About 20% of cases are caused by structural changes chromosomes, and in the remaining 20% of cases, genetic mosaicism occurs - the existence of genetically different cells.

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

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

Shereshevsky-Turner syndrome: symptoms

This pathology leads to disruption of the sexual and physical development of the fetus. Mental capacity in most cases they remain normal, but if intelligence is reduced, it is usually only slightly.

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

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

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

By the time of puberty, the height of sick children is no more than 130 cm, less often - 145. Characteristic symptom Shereshevsky-Turner syndrome is a typical appearance: a short neck with folds of skin on the sides, a wide chest, underdevelopment jaw bone, low hair growth limit, deformation ears, the face of the "Sphinx".

Osteoarticular changes in patients can manifest as scoliosis, dysplasia of the hip and elbow joints. Changes in the craniofacial skeleton may include malocclusions, a high Gothic palate, or an abnormally small upper or lower jaw.

As for cardiovascular defects, children with Shereshevsky-Turner syndrome are usually diagnosed with an aneurysm or coarctation of the aorta, defect interventricular septum or patent ductus arteriosus.

Most frequent violations urinary system are duplex pelvis, horseshoe kidney and stenosis renal arteries, which causes arterial hypertension.

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

Among concomitant diseases most often multiple pigmented nevi, diabetes, obesity, ischemic disease heart disease, Hashimoto's thyroiditis, hypertrichosis, hypothyroidism, vitiligo, celiac disease, and quite often colon cancer.

In almost all women, the leading symptom of Shereshevsky-Turner is primary hypogonadism (insufficient function of the gonads and impaired synthesis of sex hormones). Their ovaries do not contain a follicle, the clitoris, labia minora and hymen are underdeveloped, underdevelopment of the mammary glands, primary amenorrhea, scant pubic and axillary hair, and inverted non-pigmented nipples are also noted. Almost all patients suffer from infertility.

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

Shereshevsky-Turner syndrome: treatment

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

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

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

In boys, Shereshevsky-Turner syndrome is treated with replacement therapy. hormone therapy male sex hormones.

Used to eliminate congenital defects surgical correction and plastic surgery.

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

Natural pregnancy with Shereshevsky-Turner syndrome is almost impossible, since the sick woman does not produce eggs required quality. Previously, such a diagnosis became a death sentence, and the patient lost all hope of having a child. Today science has stepped forward, and, having passed specific treatment, such women can experience the happiness of motherhood. The IVF Center clinic offers you an almost win-win method on how to get pregnant with a diagnosis of Shereshevsky-Turner syndrome - IVF. It is preferable because it reduces the risk of transmitting the disease to offspring.

Shereshevsky-Turner syndrome: characteristics of the disease

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

The chromosomal nature of the disease was discovered by Charles Ford in the late fifties, but his name is not reflected in the name of the disease. Subsequently, it was proven that monosomy plays a decisive role in the development of a number of anomalies of the body described by Ford’s predecessors. There has been a long debate in science about who is the discoverer of the disease.

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

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

Shereshevsky-Turner syndrome: mosaic form

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

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

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

Shereshevsky-Turner syndrome: symptoms of pathology

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

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

small height (135-145 cm for adult woman);
short neck;
incorrect physique;
unusual shape chest(from shield-shaped to barrel-shaped);
shortened wrist bones;
excess skin on the neck (the so-called “wings”)
low-set ears, deformation of the ears;
drooping eyelids, presence of epicanthus;
an abundance of pigment spots.

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

Turner-Shereshevsky syndrome: causes of infertility in patients

If the pathology was not identified in infancy, then high probability the diagnosis will be made during puberty. The reason for contacting a doctor will be a noticeable delay in the girl’s sexual development. An examination may show abnormal formation of the genital organs:

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

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

Secondary sexual characteristics in such patients are weakly expressed. Hair growth in armpits and they are not observed on the pubis, the mammary glands do not form properly. Most sick girls suffer from lack of menstruation (amenorrhea).

Obviously, with such a pathology there will be difficulties with procreation. Only five percent of patients are fertile and give birth to children without medical intervention. More often, if a diagnosis of Shereshevsky-Turner syndrome is made, infertility treatment is inevitable.

Turner-Shereshevsky syndrome and disability

Usually this disease does not limit normal life patients. However, there are a number of cases when a diagnosis becomes a reason for filing a disability. Medical and social examination To do this you must install:

developmental defects internal organs;
formation of chronic functional organ failure;
serious violations endocrine system;
pathology of mental development.

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

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

Start your path to happiness - right now!

is a chromosomal disorder that is expressed in anomalies of physical development, sexual infantilism and short stature. The cause of this genomic disease is monosomy, that is, a sick person has only one sex X chromosome.
The syndrome is caused by primary gonadal dysgenesis, which occurs as a result of abnormalities of the sex X chromosome. According to statistics, out of 3000 newborns, 1 child will be born with Shereshevsky-Turner syndrome. Researchers note that the true number of cases of this pathology is unknown, since it is often due to this genetic disorder Spontaneous miscarriages occur in women in the early stages of pregnancy. Most often, the disease is diagnosed in female children. Quite rarely, the syndrome is detected in male newborns.

Synonyms for Shereshevsky-Turner syndrome are the terms “Ullrich-Turner syndrome”, “Shereshevsky syndrome”, “Turner syndrome”. All these scientists contributed to the study of this pathology.

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

Children are often born premature.

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

The newborn's neck is shortened and has folds on its sides. In medicine similar condition called pterygium syndrome.

Often during the neonatal period, congenital heart defects and lymphostasis are detected. The baby's legs, feet, and hands are swollen.

The baby's sucking process is impaired, and there is a tendency to frequently spit up like a fountain. There is motor restlessness.

As we move from infancy to early childhood there is a lag not only in physical, but also in mental development. Speech and attention and memory suffer.

The child is prone to recurrent otitis media due to which he develops conductive otitis media. Otitis most often occurs between the ages of one and six years. As adults, women are susceptible to progressive sensorineural hearing loss, which leads to hearing impairment after age 35 and older.

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

Appearance a teenager has features characteristic of this disease: the neck is short, covered with wing-shaped folds, facial expressions are inexpressive, sluggish, there are no folds on the forehead, underlip thickened and drooping (myopathic face or sphinx face). The hair growth line is reduced, the ears are deformed, the chest is wide, there is an anomaly of the skull with underdevelopment of the lower jaw.

Bone and joint disorders are common. It is possible to detect hip dysplasia and elbow deviation. Curvature of the shin bones, shortening of the 4th and 5th fingers, etc. are often diagnosed.

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

The high Gothic palate contributes to the transformation of the voice, making its tone higher. There may be abnormal development of teeth, which requires orthodontic correction.

As the patient gets older, lymphedema goes away, but can occur during physical activity.

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

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

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

During puberty, girls experience underdevelopment of the mammary glands with inverted nipples and sparse hair growth. Menstruation comes late or does not start at all. Infertility is most often a symptom of Turner syndrome, however, with some variants of genetic rearrangements, pregnancy remains possible.

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

From the outside cardiovascular systems Ventricular septal defect, patent ductus arteriosus, aneurysm and coarctation of the aorta are often observed,

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

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

Not uncommon dermatological problems, for example, pigmented nevi in large quantities, alopecia, hypertrichosis, vitiligo.

From the gastrointestinal tract there is increased risk formation of colon cancer.

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

Metabolic disorders often become the cause of development. Women have a tendency to become obese.

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

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

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

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

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

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

At the same time, the age of a pregnant woman does not increase the risk of giving birth to a newborn with Turner syndrome. Both quantitative, qualitative and structural pathological changes on the X chromosome occur as a result of meiotic chromosome segregation. During pregnancy, a woman suffers from toxicosis, she has a high risk of miscarriage and the risk of labor occurring prematurely.
Treatment of Turner syndrome

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

At an early age, therapy comes down to taking vitamin complexes, visiting a massage therapist’s office, performing exercise therapy. The child must receive high-quality nutritious nutrition.

To increase height, hormonal therapy using the hormone Somatoropin is recommended. It is injected subcutaneously every day. Treatment with Somatotropin must be carried out for up to 15 years, until the growth rate slows down to 20 mm per year. Administer the medicine before bedtime. Such therapy allows patients with Turner syndrome to grow to 150-155 cm. Doctors recommend combining hormonal treatment with therapy using anabolic steroids. Regular monitoring by a gynecologist and endocrinologist is important, since hormonal therapy long-term use can cause various complications.

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

Cosmetic defects, in particular folds on the neck, are eliminated using plastic surgery.

The IVF method allows women to become pregnant by implanting a donor egg. However, if at least short-term ovarian activity is observed, then it is possible to use the woman’s own cells for fertilization. This becomes possible when the uterus reaches normal size.

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

Measures to prevent the disease come down to consultation with a geneticist and prenatal diagnosis.

Education: Moscow medical school them. I. M. Sechenov, specialty - "General Medicine" in 1991, in 1993 " Occupational diseases", in 1996 "Therapy".

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

Basic information

This disease was first described as hereditary in N.A. Shereshevsky, who believed that it was caused by underdevelopment of the gonads and the anterior lobe of the pituitary gland and was combined with birth defects internal development. In Mr. Turner, he identified a triad of symptoms characteristic of this symptom complex: sexual infantilism, skin pterygoid folds on the lateral surfaces of the neck and deformation of the elbow joints. In Russia, this syndrome is usually called Shereshevsky-Turner syndrome.

A clear connection between the occurrence of Turner syndrome and age and any diseases of the parents has not been identified. However, pregnancies are usually complicated by toxicosis, the threat of miscarriage, and childbirth is often premature and pathological. Features of pregnancies and childbirth ending in the birth of a child with Turner syndrome are a consequence of chromosomal pathology of the fetus. Impaired formation of the gonads in Turner syndrome is caused by the absence or structural defects of one sex chromosome (X chromosome).

In the embryo, primordial germ cells are formed in almost normal quantities, but in the second half of pregnancy they undergo rapid involution ( reverse development), and by the time the child is born, the number of follicles in the ovary is sharply reduced compared to the norm or they are completely absent. This leads to severe deficiency of female sex hormones, sexual underdevelopment, and in most patients to primary amenorrhea (absence of menstruation) and infertility. Emerging chromosomal disorders are the cause of developmental defects. It is also possible that concomitant autosomal mutations play a role in the occurrence of malformations, since there are conditions similar to Turner syndrome, but without visible chromosomal pathology and sexual underdevelopment.

In Turner syndrome, the gonads are usually undifferentiated connective tissue cords that do not contain gonadal elements. Less common are rudiments of the ovaries and elements of the testicles, as well as rudiments of the vas deferens. Other pathological findings are consistent with the features clinical manifestations. The most important changes osteoarticular system- shortening of the metacarpal and metatarsal bones, aplasia (absence) of the phalanges of the fingers, deformation wrist joint, osteoporosis of the vertebrae. Radiologically, in Turner syndrome, the sella turcica and the bones of the cranial vault are usually not changed. Heart defects and large vessels(coarctation of the aorta, patent ductus arteriosus, patent interventricular septum, narrowing of the aortic orifice), renal malformations. Recessive genes for color blindness and other diseases appear.

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

Clinical picture and diagnosis

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

The lag of patients with Turner syndrome in physical development noticeable already from birth. In approximately 15% of patients, the delay occurs during puberty. Full-term newborns are characterized by short length (42-48 cm) and body weight (2500-2800 g or less). Characteristic signs of Turner syndrome at birth are excess skin on the neck and other malformations, especially of the osteoarticular and cardiovascular systems, “sphinx face,” and lymphostasis (lymph stagnation, clinically manifested by large edema). A newborn is characterized by general anxiety, impaired sucking reflex, regurgitation, and vomiting. At an early age, some patients experience mental retardation and speech development, which indicates developmental pathology nervous system. The most characteristic feature is short stature. The height of patients does not exceed 135-145 cm, and their body weight is often excessive. In patients with Turner syndrome pathological signs distributed according to frequency of occurrence in the following way: short stature (98%), general dysplasticity (irregular physique) (92%), barrel chest (75%), short neck (63%), low hair growth on the neck (57%), high “Gothic” palate (56 %), pterygoid folds of skin in the neck (46%), deformation of the auricles (46%), shortening of the metacarpal and metatarsal bones and aplasia of the phalanges (46%), deformation of the elbow joints (36%), multiple pigmented moles (35%) , lymphostasis (24%), heart defects and large vessels (22%), high blood pressure (17%).

Sexual underdevelopment in Turner syndrome is characterized by a certain originality. Frequent signs are geroderma (pathological atrophy of the skin, reminiscent of senile skin) and a scrotal appearance of the labia majora, high perineum, underdevelopment of the labia minora, hymen and clitoris, funnel-shaped entrance to the vagina. The mammary glands in most patients are not developed, the nipples are low located. Secondary hair growth appears spontaneously and is scanty. The uterus is underdeveloped. The gonads are not developed and are usually present connective tissue. With Turner syndrome, there is a tendency to increase blood pressure in people young and to obesity with tissue malnutrition.

Treatment

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

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

Shereshevsky-Turner syndrome is a genetically determined anomaly characterized by impaired psychophysical status, underdevelopment of the genitals and short stature. This congenital disease develops in girls who have one sex X chromosome instead of two. The typical karyotype of a sick person is 45X0, but other options are also found. The baby is usually born prematurely with a number of dangerous deviations. Partial or complete X-monosomy leaves its mark on the entire later life sick children.

The syndrome is manifested by underdevelopment of secondary sexual characteristics, mammary glands, hypogonadism, and the presence of anomalies of internal organs. Patients often have complete absence of ovaries and menstruation, hair grows on the chest and face, and congenital pathologies kidneys, heart and blood vessels, joint contractures, skin folds on a short neck, swollen limbs. Patients lag behind their peers in motor and sexual development. The appearance of adult women is distinguished by coarse facial features, hair growth along the neck to the very back, wide eyes, deformed ears, X-shaped legs, and short stature.

WITH early age sick children feel that they are different from others and are aware of their inferiority. Girls develop a complex due to small breasts, figure flaws and short stature. But some infantilism, which persists even in mature age, helps patients more easily perceive their shortcomings and endure constant psycho-emotional stress. The right approach for children with Turner syndrome helps them quickly adapt to society, lead a full life, make friends, study, fall in love, and start families. Intellectual development most of them have no deviations.

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

The syndrome was discovered at the beginning of the last century by endocrinologist N.A. Shereshevsky, who described the symptoms of congenital hypogonadism in his patients. A few years later, a specialist in the field of endocrinology, Turner, defined the nature of the pathology differently and proved that sexual infantilism is always combined with external manifestations and joint deformities. It is known that for every 3,000 newborns, 1 sick child is born. But these statistics are very conditional, since early stages Pregnant women often experience miscarriages. The syndrome has an ICD-10 code Q96 and the name “Turner syndrome”.

Etiopathogenetic factors

Shershevsky-Turner syndrome - hereditary pathology, caused by the absence of a sex chromosome, which, one might say, finally makes a woman out of a woman. Incorrect cell division during the process of conception leads to the formation of genetic material with obvious disturbances. This chromosomal imbalance is caused by incorrectly “positioned” DNA molecules.

The disease also develops as a result incorrect formation X chromosomes. The reasons for its anomalous structure are:

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

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

An incorrect chromosomal “assembly” may consist in the presence of a Y-chromosomal element in the karyotype. Such patients have their ovaries removed. This necessary event, which allows to prolong the life of people with this disease, since the Y-chromosomal element often provokes the development cancerous tumor- gonadoblastoma.

Karyotypes for this syndrome:

Karyotype 45Х0 - replacement glandular tissue ovary with connective tissue cords. Non-functioning female glands lead to irreversible infertility. To procreate, they resort to IVF. This type of syndrome is the most common and one of the most severe. It differs brightly severe symptoms and development severe complications. The syndrome is difficult to treat.
Mosaic karyotype 45 X0/46 XY – absence of the uterus and underdevelopment of the vagina, high risk oncology. To prevent recurrence of the disease, removal of the ovaries is indicated. Mosaic karyotype 45 X0/46 XX - negligible size of the ovaries. Pregnancy is possible with the participation of a donor egg. The mosaic type of syndrome differs more light current: developmental defects are not observed, there are much fewer symptoms and they are less pronounced. The disease is well treated. The mosaic type is distinguished by a combination of two types of cells - with a normal karyotype and without one X chromosome. The woman’s health status will depend on their proportionality.

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

Initially, the embryo lays normal amount germ cells. During the growth and development of the fetus, they undergo involution. A newborn girl has very few follicles in the ovary or no follicles at all. In addition to ovarian dysfunction, patients develop numerous defects of internal organs during embryogenesis.

Symptoms

The pathology is manifested by the following symptoms:

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

Sexual underdevelopment has a certain uniqueness. All women with Turner syndrome suffer from hypogonadism - underdevelopment of the ovaries. They lack follicles, and they themselves are gradually replaced by connective tissue fibers. The rudimentary uterus is small in size, the labia majora are shaped like the scrotum, the hymen and clitoris are underdeveloped, and the vagina is funnel-shaped. The mammary glands have an apigmented, retracted, low-lying nipple. There is scant or no hair growth on the pubis and armpits. Menstruation is often delayed or does not occur.

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

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

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

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

Diagnostic measures

Diagnosis and treatment of the syndrome are carried out by geneticists, gynecologists, neonatologists, pediatricians, as well as doctors of narrow specialties. First of all, the characteristic clinical signs present even in newborns attract attention. Syndrome with erased clinical picture revealed in puberty by the absence of menarche, underdevelopment of the genital organs.

Laboratory and instrumental techniques:

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

Therapeutic measures

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

Goals therapeutic measures for Turner syndrome: stimulation of the patient's growth, activation of the formation of sexual characteristics, regulation and normalization of the menstrual cycle, correction of pathologies of appearance, returning the woman to childbearing function.

Growth stimulation is carried out using hormonal therapy “Somatotropin”, “Genotropin”, “Jintropin” in combination with anabolic steroids- “Progesterone.” Injections of drugs continue up to 15 years, while the child is actively growing.
Estrogen replacement therapy begins at age 13 and normalizes a girl's puberty. Her physique is feminized, secondary sexual characteristics develop, the size of the uterus is normalized, and the trophism of the genital tract improves. Estrogen-progesterone oral contraceptives Women take courses until menopause. They speed up sexual development, form the menstrual cycle and stop the possibility of developing osteoporosis.
In vitro fertilization allows sick women to become pregnant. They're being given a boost donor eggs or your own, if there is even slight ovarian activity.
General strengthening treatment consists of using vitamin complexes, visiting a massage room and performing exercise therapy. Great importance has high-quality and nutritious food.
Physiotherapy also gives a good healing effect - electrophoresis, UHF and others.
Plastic surgery eliminates existing cosmetic defects– folds on the neck, defects of the ears and eyelids, genitals, and other types surgical intervention- malformations of internal organs.
Psychotherapeutic treatment.

You can live a full life with Turner syndrome if it is identified and treated early. It is necessary to prepare parents and patients for the course of basic therapy. Infertility - severe symptom. Most sick women cannot have children. Only 5% of patients retain fertility and give birth on their own. The rest are indicated for infertility treatment. With the help of IVF, if you have a formed uterus, you can implant your own or a donor fertilized egg.

Prognosis and prevention

If treatment for the syndrome was started on time, its prognosis is favorable. Patients who do not have serious accompanying pathologies, often live to an advanced age. Some of them give birth to children and live full lives. However, most women remain infertile. With the help of family and specialists, the process of adaptation to life in society goes quite quickly.

Prevention measures:

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

If during pregnancy it becomes known that a child with Shereshevsky-Turner syndrome will be born into the family, do not panic. A girl may be born seemingly normal. Diseases of the genital organs are currently being successfully treated. Before you accept correct solution, you need to consult a specialist.

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