Interference of ailments with Shereshevsky Turner syndrome. Shereshevsky-Turner syndrome does not affect normal life. Cause a winknennya and a factori rise

Shereshevsky-Turner syndrome is a genetic chromosomal disease, like crossing the female line at the recessions.

In a newborn girl, one can predict the presentation of the Shereshevsky-Turner syndrome, which clearly demonstrates its main symptoms.

Short neckline with wing-like pleats;
Lymphatic infusion of kіntsіvok;
Impaired reflexive Shereshevsky-Turner syndrome.

At the base of the vіtsі, the signs are added to the growth, damage to the molding of the secondary statute.

In older women with Shereshevsky-Turner syndrome, there are signs of damage to the woman's statue, the presence of secondary signs. They have an underdeveloped state of the organs and internal reproductive system.

In case of obstruction, pathologies are suspected in the development of the ovaries, the uterus is rotten during the day. Since the ovaries can be with obvious signs of pathology, as a rule, they are seen through a great risk of developing oncology and undergo hormone replacement therapy.

The diagnosis of Shereshevsky-Turner syndrome should be made for three signs:

height less than 150 centimeters;
wadi development of internal state bodies;
underdevelopment of the secondary article sign.

After the diagnostics are carried out, they reveal:

damage to the future X-chromosome;
low amount of estrogen.

The pleasure of the Shereshevsky-Turner syndrome is impossible. A rehabilitation program is being carried out.

From early childhood, the girl takes growth hormone, and in the juvenile age - I replace estrogen therapy until the onset of menstruation.

During the last days of menstruation, it is possible to let go, that the girl was formed and the reproductive system began to work.

If a girl went through a rehabilitation program for early childhood, then Shereshevsky Turner's syndrome will be indistinct. The growth of the woman is normal, there is an insignificant increase in the milk growths, the uterus is broken, and there are fluctuations in natural pregnancy.

And yet, vagity with Shereshevsky-Turner syndrome will end with either mimic abortions, or children with Shereshevsky-Turner syndrome.

If the uterus can grow normally, but the vagity does not set in, then a woman with Shereshevsky-Turner syndrome can apply for the ECD procedure from a donor egg. The main problem is in the case of a thin ball of endometrium, which is impossible to build up, as there is no evidence of ovaries.

Albeit with this problem, you can go in, wine-making of vaginess in more vipadkivs to pass without pathologies.

All women with Shereshevsky-Turner syndrome should take hormonal-stimulating therapy. Vaginal women with Shereshevsky-Turner syndrome, in order to eliminate the population of children from genetic culprits on the 11-13th stage of the analysis for plasma protein A, or to undergo prenatal diagnosis. The presence of a component of plasma protein A in the blood indicates the development of a disease in children.

It is necessary for all women to undergo pre-implantation diagnostics before the current pregnancy, in order to eliminate the risks of children from genetic diseases.

The pathological process, which manifests itself as Shereshevsky-Turner syndrome, begins in the period of embryonic development. With this, the fetus develops an abnormal number of state chromosomes. The replacement of two X-chromosomes is only one. Such changes determine the presence of various pathologies in the organism of a baby:

reproductive;
cardiovascular;
endocrine;
mental.

Shereshevsky-Turner syndrome is caused by chromosomal defects. The main reason for this, which can be caused by a pathological process, is a genetic factor. Damage to the structure of the DNA molecule can lead to the appearance of many pathologies in the process of fetal development. Such changes can cause complications during pregnancy. Whenever you can:

mimovilne reversal of vaginess;
severe toxicosis;
give birth ahead of time.

Signs of the Shereshevsky-Turner syndrome are blamed immediately after the appearance of a baby light. The peculiarities of how illness manifests itself in speechlessness, is connected with everyday life and the position of parts of the body of speechlessness.

Symptoms

In the period of bud budding, the causes and manifestations of ailment Turner described three main signs of the syndrome:

insufficiently developed state organs;
the appearance of wing-like folds on the neck of the neck;
change form lіktovіh suglobіv.

Over the years, the number of possible first signs of pathology has expanded. Shereshevsky-Turner syndrome can be manifested by other symptoms:

significant marks on the body;
small vaga;
the body of the body is small;
presence of pigment patches all over the body;
the shape of the outer shells has been changed;
twisted position of the fingers.

In case of Shereshevsky-Turner syndrome, the growth rate does not exceed 45 cm, vaga - 2.8 kg. At the hour of growth and vaga, they are given even more properly, to inspire a hardened meal for the mind.

Diagnosis of Shereshevsky-Turner syndrome in a newborn

Diagnosis The bottom line is that far from all of the symptoms may show up. However, modern medicine allows you to recognize signs of illness at the first stages of development.

Shereshevsky-Turner syndrome can be diagnosed in two stages:

at the period of vaginess;
after the appearance of a little light.

Prenatal diagnostics (with pregnancy) includes a few methods of follow-up:

follow-up of the genetic material of the fathers;
analysis of the genetic material of the fetus;
Ultrasound follow-up of the fetus.

Such a pidhіd allows you to make a diagnosis before the birth of a child and show visible symptoms, assess the level of risk for the girl and the little one before you start to feel complacent.

For the people of a child, the diagnosis of Shereshevsky-Turner syndrome includes an examination of the visible symptoms and laboratory analysis of genetic material.

complication

Fahіvtsі mean that the prognosis for newborn children with Shereshevsky-Turner syndrome is significantly higher, lower in cases of other chromosome disorders. With proper literacy, a child can lead a full life. However, the illness of the building can cause various damages in the robots of the internal organs and systems.

Examples of how unsafe Shereshevsky-Turner syndrome can be:

heart disease;
infection of the sechostate system;
futility;
damage to the rosum rosette;
psychoemotional discord.

Effektivnіst lіkuvannya rich in why lie in the behavior of the fathers. The correct sight and the recommendation of the doctor to help the little one to achieve good results.

Celebration

What can you tell

The presence of serious pathologies significantly affects the growth and development of the organism of a child diagnosed with Shereshevsky-Turner syndrome. In such minds, the fathers need to report the maximum zusil for the normalization of such processes, dorimuyuchis with the help of fahivtsiv.

Basically, what is needed for fathers to work with tsomu:

ensure regular massage;
podbati about the implantation of the necessary vitamins;
conduct a likuvalnu physical culture;
ensure that the food is eaten correctly;
sharpen the little one with respect and turbo.

It is impossible to completely overcome the Shereshevsky-Turner syndrome. However, a complex pidkhіd will help to significantly improve the quality of life of a child in the future.

What to kill the doctor

The delight of a baby with Shereshevsky-Turner syndrome should be given a task before the doctor:

normalization of state development of a child;
growth stimulation;
investigation of concomitant pathologies that develop on aphids of obvious genetic disorders

For whom the zastosuvannya of medicines is prescribed, yakі mіst hormony. Particular attention is given to supportive therapy, which allows normalization of the work of the liver, some other organs and systems in the child's body. Exaltation of Shereshevsky-Turner syndrome was followed by an additional complex approach.

Prevention

Methods of disease prevention are ineffective, due to the genetic nature of the pathology. It is impossible to avoid the appearance of such disorders, fragments of chromosomal changes occur at the early stages of fetal development. However, it is possible to diagnose Shereshevsky-Turner syndrome at early stages. For whom to be carried out:

medical consultation with nutrition genetics;
revealing risk factors;
perinatal diagnostics

The manifestation of pathology in the development of the fetus makes it possible to avoid possible complications of pregnancy and to ensure early maturation for the baby.

For a long time, people could not explain the nature of the blame for various genetic anomalies and respected that it was a curse or a mystical injection on a child. Only in the 20th century, technologies appeared, which, with hostile accuracy, can point to the right cause of the indolent, serious, recessive illnesses, the cause of the Shereshevsky-Turner syndrome, which leads to low physical fitness in children.

Description of pathology and type of decline

Shereshevsky-Turner syndrome is not a serious chromosomal pathology, which is due to the presence of only one state of the X chromosome, or damage to the body. The investigations carried out did not reveal the connection between the fathers and the obviousness of their recovery from the sickness of the child.

Approximate population statistics - 1 3 yew. new people, or to be more precise, take the data even more smoothly, the shards of more vacancies will end in miraculous abortions.

Dane zahvoryuvannya zustrichaetsya exclusively in the female state, to the fact that in humans the norm has only one X chromosome. Almost all patients suffer from infertility and underdevelopment of state organs and milk diseases.

Shereshevsky-Turner syndrome is a chromosomal anomaly that is due to monosomy behind the X chromosome

The presence of one of the X chromosomes leads to a lack of genes and codons, which could completely develop secondary state signs.

Previously, the ailment of the boulevard was described in 1925 by N. A. Shereshevsky. Vіn admitting the recessive nature of the pathology and revealing the underdevelopment of the state organs and the hypophysis. Later, in 1938, Turner saw the main symptoms of the syndrome: state infantilism, folds on the shoulders and deformity of the elbows. In 1959, Ch. Ford managed to establish the right genetic cause of the disease, and it became a common or total loss of one of the X chromosomes.

A woman becomes characterized by the presence of two X chromosomes, a person - X and Y chromosomes.

From the very early century the child needs special respect, for that one is aware of the sameness in the form of one-liners and recognizes its inadequacy. The girl is strongly complexed with the drive of underdevelopment of state organs and milk growths, small figures and small growth. However, the peculiarities of the psyche allow it to be easier to endure similar emotional pressures, to instill in the older patient a small childishness and a childish reaction to life of unacceptability. With the right approach to illness on the Shereshevsky-Turner syndrome, one can calmly develop in society, learn, mate with one-year-olds and lead a full life, the shards of intellect in most of them develop without respite.

Shereshevsky-Turner syndrome has many synonyms: Shereshevsky syndrome, Turner syndrome, Ulrich-Turner syndrome.

What can be caused by Shereshevsky-Turner syndrome - video

Cause a winknennya and a factori rise

Спочатку вважалося, що причиною розвитку синдрому є виключно відсутність однієї із статевих хромосом у жінок, проте з розвитком молекулярних технологій стало можливим виявлення додаткових типів захворювання, що виникають через деформацію або відсутність великих ділянок Х хромосоми, при яких вона нездатна повноцінно кодувати генетичну інформацію.

The main mechanism for the appearance of the syndrome is a disruption in the transmission of the X chromosome during the formation of the embryo after conception. Most often, the loss of one of the state chromosomes occurs, more often there is a frequent loss of short, long arms and broken form (changes in rosemary, Kiltseve Budova). The most suffering is the material of recession, the transmissions of the father.

The formation of the human genome at the time of conception is due to the presence of static cells with a haploid (half) chromoly set

Genetic variants (karyotypes) of Turner-Shereshevsky syndrome: mosaic type, monosomy and others

In ailments, the following karyotypes are observed:

monosomy (karyotype 45 XO) - is observed in 60% of patients;
ring-like X chromosome (46 ХRХ), deletions of the arms (46 ХР, 46 ХХq) - present in 20% of patients;
mosaic budova clitin, some part of the total number of chromosomes, and some - abnormal (46 XX and 45 X0) - appear in 20% of those who are missing.

The numbers indicate the number of chromosomes, and the letter X indicates the state of the X chromosome. The norm for women is 46 XX, for people - 46 XY.

Clinical signs of the syndrome: the appearance of moles, buttocks, Rozumova’s disability and other symptoms

If I become X-chromosome, patients show a number of symptoms:

The first signs can be seen even more under the hour of vagity, which is accompanied by severe toxicosis and constant threats of the weekend. In the other half of the gestation, the fetus begins to develop a healthy development of static cells, which leads to a sharp shortness of the follicles or their daytime.
A child, as a rule, is born prematurely, and as soon as she was born into the world she was in a normal term, then her weight and growth were not lower than the average (weight - 2.5-2.8 kg, weight - 40-48 cm). Fallen in the presence of the severity of the illness of the little ones, it is practically not possible to recover from healthy children or, for the most part, mothers without pathological development.
The neck of the neck is shortened, in deyaky folds one can see wing-like folds that sweat її, the mimicry is weak, the lower lip is significantly toasty, the growth of the hairline is underestimated, the external concha may be damaged in the bud, the chest is wide, unproportionately brushed thumb mindfully shorter for others. Possible manifestation of heart failure, swollen kinks, impaired smoctal reflex.
Dzhe often suffer from gloomy, do not go out until the end of the crack of the tongue, the ridge is slender to scoliosis.
In the process, the development of a child can be physically and mentally similar, but in times of mosaicism, it is infrequent. Іsnuє skhilnіst up to otitis, yakі often lead to deafness.
Characteristic manifestations of illness: shortening of the cyst and low growth in a patient of pubertal age (14–15 years)
After 14 years of growth, the growth rarely exceeds 145 cm, patients complain about the number of days of menstruation. Sometimes the first symptoms, with which they go to the doctor.
Since there is only one of the X chromosomes, the main impact is on the development of the reproductive system. All the patients suffer from stately infantilism in a different world. The replacement of the ovaries is formed successfully tissue, so as not to avenge the gonads, the uterus can be in the daytime or be unresolved, the same state of the body may be inspired by the rosemaries of that form.
Dairy ridges under the hour of state maturation can be molded.
Vіdsutnє hair on the pubis and paws.
Intellect practically develops in all patients in normal mode. The stench of good is taught at the same time with the decision of children, the building is constantly victorious, whether it be a robot, and in no way do they care about healthy people. Only the most aggravated moods can lead to oligophrenia.
Lack of estrogen disrupts the formation of cysts, leading to osteoporosis and partial fractures.
Bagatiohs are suffering from heart disease:
- ischemic disease;
- movement of the arterial pressure;
- wadi forming aorti;
- valve stenosis.
If the bones of the skull were incorrectly formed, then the bite is broken through the temple of the bottom.
Possibly a sub-war of nirks, pidkovopodibna nirk, stenosis of the arteries.
, omitted povik, .
(Short amount of hormone production by the thyroid gland).
Smilnist to zavoi vaga and diabetes.
Frequent births.

Already in the early age of the child, the first signs of illness appear

Diagnosis and differential diagnosis

The first diagnosis of a building leukar should be made on the basis of a glance, however, there is only one possibility of reconsideration in the presence of Shereshevsky-Turner syndrome - karyotyping.

When looking around, the doctor reveals the characteristic signs of the syndrome

Fahivets is requested to take blood for cytogenetic follow-up, so as to turn off the possibility of making a chronic diagnosis.

Karyotype - a set of chromosomes with the latest description of their characters (number, number, shape, size).

Under an hour of follow-up, the skin chromosome okremo is bred. From the venous blood, lymphocytes are seen that are at the stage of mitosis. For the help of special reagents, the process is subdued, the material is collected and analyzed under a microscope. From otrimanih given genetics to make a good diagnosis.

With the help of a special microscope, connected to a computer, the doctor is able to transcribe the skin chromosome

Useful additional methods for directing the treatment of symptoms associated with Shereshevsky-Turner syndrome:

Differential diagnosis is carried out with advancing illnesses:

pituitary hypogonadism;
Noonan syndrome;
Rokitansky-Kustner-Mayer syndrome.

Differential diagnosis of illness is carried out with Noonan syndrome

Celebration

Since Turner syndrome is chromosomal disease, it is impossible to change it. However, for the help of a comprehensive approach, a significant reduction in symptoms should be expected. The main voice is to fight for stimulating the growth of the child, the development of her secondary and primary signs. The process of therapy is more complex and will require great efforts to restore the lack of functioning of the body.

Medical therapy

From an early age, patients are prescribed somatotropic growth hormone (Somatotropin, Genotropin, Saizen, Dzhintropin).

Injection of growth hormone is allowed to increase the patient's height to approximately 155 cm.

Sound, vykoristannya growth hormone continue up to about 15 years, step by step fast dosing. In addition, a course of anabolic steroids (progesterone) is prescribed in parallel, which is strong enough to form a mass. The zastosuvannya of these medicines can lead to worse conditions, which requires a constant control of the endocrinologist and gynecologist for the development of the child.

In pubertal age (nearly 13 years of age), hormonal therapy with drugs containing estrogen (Estradiol, Novinet, Proginova toshcho) is prescribed. Stimulates the development of the development, growth of the milk streaks, secondary signs of the uterus. Approximately in the second year of life, the use of special oral contraceptives is started, which regulate the menstrual cycle. The process lasts approximately 50 years.

Faces that are prescribed for pathology, in the photo

Jintropin is a human growth hormone, which is the main method of treating Turner syndrome Novinet is a hormonal drug that stimulates development Progesterone is an anabolic steroid that forms an ointment

Surgical intervention

Before the methods of plastic surgery, they go for the correction of external defects (removal of wing-like folds, deformities of the lowered folds, intimate plastic surgery).

In some disorders in pathologies, the development of the cardiovascular system or other organs is prescribed special operations for the correction of a healthy patient.

Dodatkovі methodi likuvannya

Patients should take care of different kinds of sports in order to increase inflammation and stimulate blood flow. Nezayvim will be courses of massage or different physiotherapy procedures (electrophoresis, UHF then).

With Turner's syndrome, it is not necessary to take special diets, the doctor can give only general recommendations on how to eat, which is appropriate for all people. Special folk recipes, which are prescribed for someone who is ill, is not necessary.

Planning of pregnancy in patients with Shereshevsky-Turner syndrome

Bezpіdnіst - arguably important symptom, yakim suffer practically all ailments on Turner-Shereshevsky syndrome. In the majority of vipadkiv patients, mothers of children cannot be born, prote with mosaic forms, if the uterus is formed, for the help of the method of extracorporeal flooding (ECF) it is possible to give a blood-filled egg (for the mind of the full development of the ovaries) and donors.

Vykoristannya vlasnyh stateevykh clitin women can only do that in the fall, as the stench avenges the normal karyotype 46 XX.

Extracorporeal flooding - the possibility for a woman with genetic Shereshevsky-Turner syndrome to give birth to a healthy child

The prognosis of happiness, the triviality of life and the possibility of aggravation

With a proper cob of jubilation, even good results can be achieved. Replacement hormonal therapy allows you to increase the growth, form milk deposits and state organs. Turner's syndrome does not impinge on the triviality of the life of an ailing person. Patients live to old age (due to other serious pathologies).

In some cases, one can reach the best results of therapy, ailments with Shereshevsky-Turner syndrome can mothers of children and live full lives.

Prevention

The only approach of prevention is genetic pre-surgery diagnostics with the appointment of a chromosome set, taken from natural waters. Nadalі to be consulted by a doctor-geneticist and different prenatal screenings are prescribed.

Irrespective of the innocence of being ill, do not get angry. In most cases, the child reacts positively to the prescribed therapy and, for the help of relatives and fahivtsiv, step by step adheres to life in society.

Main symptoms:

Barrel-shaped chest
Hand deformation
Foot deformity
Curved teeth
Little nails
Small rіst
Impossibility to wrinkle the forehead
Underdeveloped breasts
Low line of hair on the head
Seeing rosemary rose
Vіdsutnіst hairy in the inguinal depressions
Vision of pubic hair
Rozkrity mouth
Pleat on shii
Trivoga
Widely spaced nipples

Shereshevsky-Turner syndrome is a genetic pathology, as it occurs in the karyotype of an individual of one of the chromosomes of the state system. The characteristic ailment of ailment is those who oppose only girls. The frequency of the spread of the disease is one of five thousand newborn girls. Quite often, with such an ailment, one is afraid of a momentary rebirth of the child’s winemaking period (on early terms). Therefore, it is impossible to accurately determine the frequency, for which the disease is spreading. Those who have a very favorable result are especially important.

The signs of this syndrome are short stature, variability in the development of the life of important organs, the appearance of folds of the collar on the neck, and deformation of the deep joints. Tse single genetically ill, with any representative of the female state, live with 45 chromosomes, replacing the normal karyotype in 46 chromosomes. The diagnosis is established based on specific clinical features. Why, it is possible to diagnose such an ailment under the hour of pregnancy.

Treatment of the complex syndrome and rooting on stasis of hormonal therapy with the method of correction of congenital vads. In the international classification of illness (ICB 10), the pathology increases with a number of values - Q 96, without middle illness, Q 96.8 - other variations of illness.

Etiology

The main reason for the formation of Shereshevsky-Turner syndrome is the disruption of the normal karyotype, in which the presence of another state chromosome is suspected. The mechanism of transmission of infection remains unexplained. In the medical sphere, there is an impersonal super-cellar with a lot of depression. Pleasant factors leading to ailments are:

various infections of the state system, transferred earlier by the future mother;
unfriendly mind dovkilla, Gassing, zabrudnenist;
living by a woman at a great number of alcoholic drinks during the hour of pregnancy;
stronger viprominyuvannya electromagnetic chi ionizuyuchy character;
starvation, or else be used by the body, for example, with severe illness (often in the period before conception).

The most common manifestation of the syndrome is the development of depression - often such children are born into absolutely healthy fathers. Tse means that it is impossible to transfer the conception of an ailing child, or to carry out preventive visits. Under the hour of pregnancy, you can find out about the disease only for additional analysis on the karyotype.

Rіznovidi

The Shereshevsky-Turner syndrome transmits the presence of a whole complex of damage from the side of the state system and life of important organs. According to the nature of genetic pathology, medicine, depending on the type of ailment options:

the presence of another state chromosome - this form of the disease is most common. Especially those who develop normally in the first trimester of the fetal ovaries. In addition to the increase in the term of vagity, step by step, the replacement of the cells of the possible egg with a fertile tissue begins to appear, and also the development of the insides of the internal organs begins. In addition, this type is the most wide-ranging, one of the most important, the symptoms are clearly pronounced, it is important to exult, it is easy to see;
mosaic - the easiest type of ailment, the shards of important vadi development are not afraid, there are only signs of a specific ovality, but they are richer less, lower for the front form. The complication develops very rarely. Lіkuvannyu pіddaёtsya good;
Structural changes of the state chromosomes are diagnosed in single episodes in women, as they may have a normal karyotype, but one of the chromosomes of the state system is severely impaired. Characteristic signs ailments are present, but they are richer less, lower for the first form.

Symptoms

In rich newborn girls, there are more than insignificant symptoms, and in some older people, deformity of the hands and feet, as well as folds of the collar on the back surface of the neck. Other symptoms of this syndrome include:

specific viraz appearance - the mime is weak, the impossibility of wrinkling the forehead, the mouth is always drunk, the lower lip of the troch is hanging;
the shape of the chest may look like a barrel;
swelling of the lower endings;
low growth will go with the high showcases of the body of the body;
the line of hair growth on the shii is ruffled low;
nipples are localized significantly lower and wider, lower in healthy children;
Significant impairment of the state's maturity can be supported by the juvenile vice. Vidsutnіst monthly, hairline on the pubis and in the dilyantsі groin, underdevelopment of milk folds;
when you see a grown-up - older than the age of the child, then the sign is more pronounced;
curvature of the dentition - guard against all genetic diseases;
skewness;
zatrimka rozumovogo rozvitku - children vіdіznyayutsya disrespect that filthy memory;
mental disorder like emotional instability, depressive states, psychosis, became anxiety;
Wadi the development of internal organs - the heart-vascular system, organs of hearing, nirok (mostly guarded by their sub-military).

complication

Most often, such a legacy of illness, like. Ale vіdomi vipadki, if women, ailments to such ailments, can be zavagіtnіti - traditionally, or for the help of a piece of zaplіdnennia. It may be less in ailments with a mosaic variant of illness, or in different early hormonal treatment. Basically, the complications associated with pathologies of internal organs and systems:

sickness to early development of disease of the cardiovascular system;
іnfektsiyno-ignition processes in nirkah and sich mіkhurі;
viniknennya evil new creations on the crooked roof;
various psychological problems;
high rizik rozvitku that.

With proper, correct diagnosis and complex treatment, people with such a syndrome will eventually adapt to life. Vinyatok to become individuals with important congenital waters of the heart of that vessel.

Diagnostics

Irrespective of the presence of specific ominous sign, Sidro Shereshevsky-Turner is diagnosed with real difficulties. This is why it seems that the mosaic form of the disease is often observed, or the structural change of two state chromosomes. For such options, it is completely understandable that the symptoms of the disease can be daily. Confirming the diagnosis in such a case can only be done by a special test for karyotype - karyotyping.

To form the basis of diagnostic approaches:

definition of the reasons for such a disease;
karyotyping of fathers and fetuses;

At the first stage, it is necessary to carry out a detailed examination of the fathers in order to infuse shkidli chinniks into alcoholism. Rozmova from a doctor-geneticist is straightened out on the diagnosis of the presence of genetic diseases, right up to the fourth column. It is important that the risk of forming the syndrome is great, as if there were people in one family who suffered from chromosomal pathologies. Although such information is not confirmed, this stage does not have diagnostic value.

Appointment to the karyotype of the fathers is not less likely to be carried out for the suspicions of the fahivtsya, but it can also be carried out for the fathers' fathers. The procedure essentially predicts the most important blood sampling from a vein for laboratory blood sampling. The analysis is carried out in the period from 10 to 12 days of pregnancy. The process of holding the fetal clots for further maintenance is carried out after an additional puncture, when a special needle is inserted at the empty uterus through the anterior fetal wall.

Ultrasound of the fetus for the hour of vagity and irreplaceable obstezhennyam in the diagnosis of intrauterine diseases. Definitely, such an ultrasound syndrome cannot be detected, but we can give information about various signs of illness.

After the birth of a child with a genetic disorder, it is necessary to carry out additional investigations:

Ultrasound of internal organs;
EKG - a robotic heart;
EhoKG - allows to detect anomalies of the cardiovascular system;
global blood analysis - shows the impersonal processes that occur in the internal organs and systems;
analysis of urine - similarly to the previous procedure in order to improve the functioning of the internal processes;
radiography of the hands and feet.

Krym tsyogo, ailments to such a syndrome obov'yazkovo pass around with rich fahіvtsіv from different spheres of medicine. Thus, diagnostics plays an important role in the assigned karyotype, the form of illness and the tactics of extortion.

Celebration

Like a rich chromosomal disease, the Danish syndrome is almost impossible to overcome. The main goal of therapy is direct stasis of hormonal speech and stimulation of growth. In early childhood, lukewarm massages, courses of exercise therapy and vitamin complexes can stagnate. In the case of an older person, estrogen replacement is prescribed.

Krim tsgogo zastosovuetsya:

surgical intervention - for the elimination of defects in internal organs;
plastic surgery - liquidation of changes in the manifestation of the obvious signs of ailment;
psychotherapeutic exuberance

There is no specific prophylaxis for the syndrome. Fathers are recommended to carry out an analysis for a karyotype before conception and a similar test for the fetus, for suspicion of fahivtsya.

Chi everything is correct in the article from the medical point of view?

Give me some advice in that case, as you have proof of medical knowledge

Significantly part of the illness of people to become spadkovі pathology, the cause of which was far away from medical genetics for a short period of time from the beginning of the twentieth century to the present day. Deyakі їх suprovodzhuyutsya bezpіddyam. One of these illnesses is the Turner-Shereshevsky syndrome.

Appreciate understanding

All information about a person is embedded in її genes, which are transmitted from generation to generation. Usі voni podіlenі for forty-six main storage - chromosomes. In the skin їх they perebuvayut in the singing order of different genes. All stinks are present in a person in a subvariant specimen and are located in forty or two chromosomes. Two are designated by the Latin letters X and Y and signify to become people. A woman has two chromosomes X (46, XX), a man has one X and one Y chromosomes (46, XY).

For the presence of less than one X chromosome (45, X0), an illness develops - the Turner-Shereshevsky syndrome, which is characterized by low growth, underdevelopment of state organs and impersonal anomalies of other organs and systems.

Synonyms of illness: Shereshevsky's syndrome, Turner's syndrome, Ulrich's syndrome, Ulrich-Turner's syndrome.

Previously, the illness was described by Mykola Shereshevsky in 1925. The frequency of illness is 1 fluctuation per 5 yew. newborn.

Cause that factor development

To become a people is formed back to the people. At the moment of conception, two scenarios are possible:

Due to the incorrect formation of the state of the clitin or їх under the development of the embryo at the early stages, the following options are possible:

Genetic variants of Turner-Shereshevsky syndrome - table

Genetic variant of the syndrome	Chromosomal recruitment	Embryo sublog	Lifestyle embryo
Simple monosomy (chromosome missing)	45, X0	Zhіnochiy	living building
Simple monosomy (chromosome missing)	45, Y0	Cholovichy	non-residential building
Mosaic	45, X046, XX	Zhіnochiy	living building
Mosaic	45, X046, XY	Cholovichy	living building

The majority of patients with Turner-Shereshevsky syndrome are women. In humans, the disease develops only rarely, and less so in the mosaic version. With simple monosomy, all cells in the body have one state chromosome, which is why clinical signs are more pronounced. In the mosaic variant, symptoms can be smoothed out, especially with a small number of cells due to a defective chromosomal set. Vіk batkіv ceasing to be a significant official in the formation of the syndrome.

Clinical picture, symptoms and signs

In newborns with Turner-Shereshevsky syndrome, the following symptoms are observed:
- low growth is that vaga with people at the lines;
- winged shawls on a short shawl;
- pronounced swollen feet and hoomilok;
In up to three fates, it is typical to show illness:
- superfluous rukhova activity;
- disgusting appetite;
- stuttering of psychomotor development;
- increase in growth rates;
- rozumova vіdstealіst (in 30% of cases);
- deformation of the vukh, ulnar globules, shortness of the p'yastkovy brushes;
The period of state maturation has a low sign:
- growth is lower than average (130-145 cm);
- wide chest;
- parts of fractures due to rozrіdzhennya of the cystic speech;
- curvature of the spine (scoliosis);
- multiple pigment patches on the skins (nevuses);
- epidermal hair;
- undissolved tissue on milk vaults;
- daytime menstruation (amenorrhea);
In older women, there is a risk of bezplydya (impossibility of current pregnancy).

Zovnishhnіy vglyad ailing on the Turner-Shereshevsky syndrome of different age groups.

Wing-like folds on the neck, swollen wrists and feet in the newborn; old look ailments at the vіtsі 5-6 years
Characteristics of rice individuals and wing-like folds on the neck in children with Turner-Shereshevsky syndrome in children of 4–5 years
Characteristic signs of illness: shortening of the cyst and low growth in a patient of pubertal age
Characteristic features of the appearance and wing-like folds on the neck of a patient of a mature age

The variety of clinical symptoms lies in the genetic variant of the disease. With a mosaic form with a small number of defective cells, the original appearance does not change, the disease manifests itself in the period of state maturation.

Causes of infertility in women with Turner-Shereshevsky syndrome.

Illness diagnosis

To establish a correct diagnosis, it is necessary to carry out offensive visits:

a doctor’s glance showed signs of illness;
blood analysis to the level of the state hormones;
follow-up of the chromosome set in cells taken from the inner surface of the cells;
ultrasonic examination of the pelvic organs is carried out to identify the expansion of the uterus and ovaries, if there are significant changes;
ultrasound examination of the heart for the detection of defects in the yogo development;
X-ray examination of the hands, ridge, ulnar globules to reveal their deformities and thinness of the cystic tissue;
ultrasonic investigation of the detection of anomalies in development;

Differential diagnosis is carried out with advancing illnesses:

Methods of likuvannya

Hormone therapy

The main objectives of the treatment of Turner-Shereshevsky syndrome are the attainment of an acceptable growth and an adequate overshoot of the state maturity. The first is to be blamed for the additional recognition of the growth hormone - Somatotropin right up to the residual closure of the cartilaginous zones of the old brushes of the upper and lower ends. From the 12th century, for the launch of state maturation in the body, the growth of milk deposits and the uterus, the formation of the menstrual cycle, women are prescribed hormones - estrogen, then progesterone. Drugs are taken by a woman with Turner-Shereshevsky syndrome in the middle to 50 years.

Surgical treatment

Operative litigation is carried out in such situations:

consort vrogena vada heart;
the need for correction of the deformity of the ridge;
correction of wing-like folds on the neck with a cosmetic method for additional methods of plastic surgery;

Non-drug treatment

Before non-drug treatment of the Turner-Shereshevsky syndrome, come in:

rational mode of practice and recovery;
a diet with a reduced amount of carbohydrates, enriched with vegetables, fruits and vitamins;
luxurious massage;
likuvalna gymnastics;
electrophoresis and magnetotherapy;
sanatorium-resort treatment;

People's zasobi did not bring their effectiveness in the fight against these diseases.

Forecast of life and consequences of illness

If the diagnosis is made in due time and adequately carried out merry visits, the prognosis is favorable. In ailments, one can reach a pleasant growth and expansion of state organs. Triviality of life for the presence of important anatomical anomalies on the side of other organs is not observed in healthy people. A woman with Turner-Shereshevsky syndrome with normal uterine growth can cause the child to be blamed by using modern reproductive methods - egg plating, taken from a donor, from a sample (ECO).

Prevention

united efficient method prophylaxis є dopologova genetic diagnostics s vyznachennyam chromosomal set, obsessed with navkoloplіdnih waters. Nadali be consulted by a geneticist.

Turner-Shereshevsky syndrome is a serious genetic disease that affects the entire body. With proper diagnosis, patients with this diagnosis can successfully create a healthy baby with the help of modern reproductive technologies.