Shereshevsky Turner syndrome clinical manifestations. Genetic disorders as a cause of the development of Shereshevsky-Turner syndrome

Turner syndrome (Shereshevsky-Turner syndrome, Bonnevie-Ulrich syndrome, Syndrome 45, X0) is a consequence of complete or partial absence one of the two sex chromosomes is phenotypically determined to be female. The diagnosis is based on clinical manifestations and confirmed by karyotype examination. Treatment depends on symptoms and may include surgical treatment for heart defects, and often growth hormone therapy for short stature and replacement therapy estrogen in the absence of puberty.

Clinically first described by the domestic endocrinologist N.A. Shereshevsky in 1926. Cytogenetically the syndrome was verified in 1959. Population frequency 1: 5000 females.

ICD-10 code

Q96 Turner syndrome

Q96.8 Other variants of Turner syndrome

Q96.9 Turner syndrome, unspecified

Epidemiology of Shereshevsky-Turner syndrome

Shereshevsky-Turner syndrome occurs in approximately 1/4000 live births and is the most common sex chromosome abnormality in women. At the same time, 99% of pregnancies with a fetal karyotype of 45.X end in spontaneous abortion.

What causes Shereshevsky-Turner syndrome?

Approximately 50% of patients with Shereshevsky-Turner syndrome have a karyotype of 45, X; In approximately 80% of cases, the paternal X chromosome is lost. Most of the remaining 50% is mosaic (for example, 45, X/46, XX or 45, X/47, XXX). Among mosaic patients, the phenotype may vary from typical of Turner syndrome to normal. Sometimes girls with Shereshevsky-Turner syndrome may have one normal X chromosome and one X-ring chromosome; In order for the formation of a ring chromosome to occur, it must lose a section from the short and long arms. Some girls with Turner syndrome may have one normal X chromosome and one isochromosome, consisting of two long shoulders X chromosome, which was formed after the loss of the short arm. These girls tend to have many of the phenotypic features of Turner syndrome; Thus, it seems that divisions of the short arm of the X chromosome play important role in the formation of the Shereshevsky-Turner syndrome phenotype.

Pathogenesis of Shereshevsky-Turner syndrome

The absence or change of the sex chromosome leads to impaired ovarian maturation, absence or late partial puberty and infertility.

Symptoms of Shereshevsky-Turner syndrome

Many newborns have only very mild symptoms; however, some have significant dorsal lymphedema of the hands and feet, as well as lymphedema or skin folds on the back of the neck. Other common abnormalities include winged neck folds, broad chests, and inverted nipples. Affected girls have short stature compared to family members. Less common symptoms are low hairline on the back of the neck, ptosis, multiple pigmented nevi, short fourth metacarpal and metatarsal bones, prominent toe pads with whorls at the tips of the toes, and hypoplastic nails. Cubitus valgus (valgus deviation in the elbow joint) is also noted.

Common cardiac abnormalities include coarctation of the aorta and bicuspid aortic valve. Hypertension often develops with age, even in the absence of coarctation. Renal anomalies and hemangiomas are common. Sometimes telangiectasia is found in the gastrointestinal tract, with developing gastrointestinal bleeding or protein loss.

Gonadal dysgenesis (the ovaries are replaced by bilateral strands of fibrous stroma with the absence of developing germ cells) is observed in 90% of patients, leading to the absence of puberty, lack of enlargement mammary glands, amenorrhea. However, 5-10% of affected girls undergo spontaneous menarche, and very rarely affected women are fertile and have children.

Delay mental development rarely observed, but many patients experience a decrease in some perceptual abilities and, as a result, low ratings in nonverbal tests and in mathematics, even though the scores obtained on the verbal component of intelligence tests are average or even high.

Growth retardation, often from birth (100%).
Gonadal dysgenesis with amenorrhea and sterility.
Lymphatic edema of the dorsum of the hands and feet (40%).
Wide rib cage with combined sternum deformity.
Widely spaced, hypoplastic and inverted nipples (80%).
Abnormally shaped and protruding ears (80%).
Low level of hair growth.
Short neck with excess skin and wing-like folds (80%).
Cubitus valgus (70%).
Narrow, hyperconcave and depressed nails (70%).
Congenital kidney defects (60%).
Hearing loss (50%).
Congenital heart and aortic defects (coarctation of the aorta and valve pathology, dilatation and dissection of the aorta) (20-40%).
Idiopathic arterial hypertension(AG) (27%).

Diagnosis of Shereshevsky-Turner syndrome

In newborns, the diagnosis can be suspected in the presence of lymphedema or pterygoid folds of the neck. In the absence of these changes, some children are diagnosed later on the basis of short stature, amenorrhea, and lack of puberty. The diagnosis is confirmed by karyotype examination. Echocardiography or MRI is indicated to detect congenital heart defects.

Cytogenetic analysis and studies with a Y-specific probe are carried out in all individuals with gonadal dysgenesis to exclude mosaicism with the presence cell line with a karyotype of 46, XY (45, X/46XY). In such patients it is usually female phenotype with various features of Turner syndrome. They are in a group increased risk on development malignant neoplasms gonads, especially gonadoblastoma, therefore, for prevention, the gonads should be removed immediately after the diagnosis is made.

Physical examination

Diagnosis is made based on characteristic clinical picture: short neck with excess skin and pterygoid folds in newborn girls, lymphedema of the hands and/or feet, congenital defects of the left heart or aorta (especially

Everyone knows that the human body is formed from one cell - a zygote, which is obtained as a result of the fusion of two sex gametes. Carrying genetic material from two parents. And it is this set of genes that determines all the signs and characteristics of the future organism.

But it also happens that instead of a normal karyotype (46XY or 46XX), due to a violation of the processes of gametogenesis, a zygote appears with a violation quantitative composition chromosomes. This leads to severe anomalies in the embryo, which most often lead to its death and cause spontaneous abortion at early stages. But with a number of chromosomal abnormalities, the pregnancy is not interrupted, and children are born as completely viable children with a number of deviations from the norm.

One example of such a chromosomal pathology is Turner syndrome or Shereshevsky-Turner syndrome, as it is commonly called in Russia.

First mention of Shereshevsky-Turner syndrome

This syndrome was first described by the Russian scientist Shereshevsky in 1925.

Turner described this chromosomal disease in 1938, highlighting three main features inherent in it:

sexual infantilism,
pterygoid cervical folds
and deformation elbow joints.

A genetic cause The occurrence of this developmental anomaly was established by Charles Ford in 1959.

Cause of the disease and its clinical consequences

The cause of Shereshevsky-Turner syndrome in a fetus is the absence of one sex chromosome. As a result, a child is born with a karyotype of 45X0. Pregnancy with such a child is often complicated by the threat of miscarriage, preeclampsia varying degrees severity, and premature birth often occurs.

During intrauterine development germ cells are laid in normal quantity, but then quickly undergo atresia and by the time of birth, follicles in the ovaries, as a rule, are absent. Although it is not entirely correct to talk about the ovaries in such children - the gonads are usually represented by connective tissue cords, less often - by rudiments of the ovaries.

Main disorders in Shereshevsky-Turner syndrome

In addition to disturbances in the formation of the reproductive system, there is serious osteoarticular pathology, as well as multiple heart defects. Developmental delay in such patients is often determined in utero; most of them are born with low body weight (2500-2800 g) and short body length (42-48 cm). IN early age, in addition to the lag in physical development, there is also a violation of neuropsychic and speech development.

Signs of Shereshevsky-Turner syndrome

Characteristic signs of Shereshevsky-Turner syndrome are:

short stature,
Wrong physique
Shield chest,
Shortening of the neck
barrel chest,
High gothic sky
Low hair growth on the neck,
Deformation ears,
Shortening of the carpal bones and aplasia of the phalanges,
Multiple age spots or vitiligo,
Strabismus, ptosis (drooping upper eyelid), epicanthus (fold of the “third eyelid” in inner corner eyes)
Lymphostasis.

Sexual underdevelopment also has a number of characteristic features. Often there is a high perineum, underdevelopment of the labia minora and hymen, a funnel-shaped entrance to the vagina, and uterine hypoplasia. Mammary glands without hormone therapy are not developing.

Treatment of Shereshevsky-Turner syndrome

For normal harmonious development, children with Shereshevsky-Turner syndrome require significant medical intervention, and at almost all stages of growth and development.

Treatment has several goals:

correction of growth and metabolic complications,
compensation for birth defects internal organs,
elimination of cosmetic defects.

But started in a timely manner competent treatment allows such girls to weigh normal image life, no different from people who do not suffer chromosomal diseases, and even have children, which was previously almost impossible.

The first stage of treatment of patients with Shereshevsky-Turner syndrome

Until the age of three, such children do not outwardly lag behind their peers in growth, although by the age of three there is a lag bone age for one year. At the first stage, treatment is carried out steroid hormones, which have an anabolic effect on the body, and therefore help patients keep up with their peers in growth and physical development. In addition, in recent years V complex therapy For Shereshevsky-Turner syndrome, growth hormone - somatotropin - is successfully used.

The subsequent stage of treatment of patients with Shereshevsky-Turner syndrome

At the age of 14-15 years, patients are prescribed estrogens to shape their physique according to female type, as well as the development of secondary sexual characteristics. More early appointment estrogen promotes the closure of epiphyseal growth zones tubular bones, and therefore significantly reduces the final growth rates in these patients, who, even with adequate therapy rarely exceed 150-155 cm. Estrogen therapy lasts 16-18 months. Later, to achieve regular menstrual cycle Hormone replacement therapy is prescribed for the entire period reproductive period, before the age of menopause in healthy women.

Pregnancy of women with Shereshevsky-Turner syndrome

Modern reproductive technologies allow these women to carry a pregnancy to term and give birth to children. For this purpose, donor eggs are used, since women with Shereshevsky-Turner syndrome do not have their own normal eggs, as well as the method in vitro fertilization. Pregnancy usually requires hormonal support and observation in highly specialized medical institutions.

Spontaneous pregnancies that occur without therapy with one's own egg also occur. This is possible in patients with a mild or erased form of the disease, which is most often caused by mosaicism (some of the cells have the 45X0 genotype, and the other part has the normal 46XX genotype). But such cases most often lead to the birth of children with Shereshevsky-Turner syndrome.

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 birth defects internal development sick. 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 a child is diagnosed with Shereshevsky-Turner syndrome during intrauterine development, 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 in 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;
appearance the labia majora looks more like a 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 the patient’s normal life. 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:

malformations of internal organs;
formation of chronic functional failure organs;
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 need professional or psychological rehabilitation.

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

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A significant portion of human diseases are hereditary pathologies, the cause of which was found out medical genetics for short period time from the beginning of the twentieth century to the present day. Some of them are accompanied by infertility. One of these diseases is Turner-Shereshevsky syndrome.

Definition of the concept

All information about a person is contained in his genes, which are inherited from generation to generation. All of them are divided into forty-six main components - chromosomes. Each of them contains different genes in a certain order. All of them are present in humans in duplicate and are located on forty-four chromosomes. The remaining two are designated by the Latin letters X and Y and determine the gender of the person. A woman has two X chromosomes (46, XX) in her chromosome set, a man has one X and one Y (46, XY).

If there is only one X chromosome (45, X0), a disease develops - Turner-Shereshevsky syndrome, characterized by short stature, underdevelopment of the genital organs and many anomalies of other organs and systems.

Synonyms of the disease: Shereshevsky syndrome, Turner syndrome, Ullrich syndrome, Ullrich-Turner syndrome.

The disease was first described by Nikolai Shereshevsky in 1925. The incidence of the disease is 1 case per 5 thousand newborns.

Causes and development factors

A person's gender is formed long before his birth. At the moment of conception, two scenarios are possible:

Due to incorrect formation germ cells or their division into early stages The following options for embryo development are possible:

Genetic variants of Turner-Shereshevsky syndrome - table

Genetic variant of the syndrome	Chromosome set	Sex of the embryo	Viability embryo
Simple monosomy (lack of chromosome)	45, X0	Female	viable
Simple monosomy (lack of chromosome)	45,Y0	Male	not viable
Mosaic	45, X0\46, XX	Female	viable
Mosaic	45, X0\46, XY	Male	viable

Most patients with Turner-Shereshevsky syndrome are women. In men, the disease is extremely rare and only in a mosaic form. In simple monosomy, all cells in the body contain one sex chromosome, That's why clinical signs most clearly expressed. With the mosaic variant, symptoms can be smoothed out, especially with a small number of cells with a defective chromosomal complement. The age of the parents is not a significant factor in the formation of the syndrome.

Clinical picture, symptoms and signs

Newborns with Turner-Shereshevsky syndrome experience the following symptoms:
- low height and birth weight at term;
- pterygoid skin formations on a short neck;
- severe swelling of the feet and legs;
Under the age of three years The following manifestations of the disease are characteristic:
- excessive physical activity;
- poor appetite;
- delayed psychomotor development;
- slowdown in growth rates;
- mental retardation (in 30% of cases);
- deformation of the ears, elbow joints, shortening of the metacarpal bones;
During puberty, a number of signs appear:
- height below average (130–145 cm);
- wide chest;
- frequent fractures due to rarefaction of bone substance;
- curvature of the spine (scoliosis);
- multiple pigment spots on the skin (nevi);
- excessive hair growth;
- undeveloped breast tissue;
- lack of menstruation (amenorrhea);
Adult women experience infertility (impossibility of pregnancy).

Appearance of patients with Turner-Shereshevsky syndrome of different age groups - photo

Wing-shaped folds on the neck, swelling of the hands and feet in a newborn; appearance of a patient aged 5–6 years
Characteristics face and pterygoid folds on the neck in a child with Turner-Shereshevsky syndrome aged 4–5 years
Characteristic signs of the disease: shortening of the hand and short stature in the patient puberty
Characteristic facial features and wing-like folds on the neck in a mature patient

Expressiveness clinical symptoms depends on the genetic variant of the disease. With a mosaic form with a small number of defective cells, the appearance of the newborn does not change; the disease manifests itself during puberty.

Causes of infertility in women with Turner-Shereshevsky syndrome - video

Diagnosis of the disease

To install correct diagnosis the following activities are required:

examination by a doctor to identify external signs diseases;
blood test for sex hormone levels;
study of the chromosome set in cells taken from inner surface cheeks;
an ultrasound examination of the pelvic organs is performed to determine the size of the uterus and ovaries, which are usually significantly reduced;
ultrasound examination of the heart to identify malformations;
X-ray examination of the hands, spine, elbow joints to identify their deformation and bone density;
ultrasound examination of the kidneys to detect developmental abnormalities;

Differential diagnosis is carried out with the following diseases:

Treatment methods

Hormone therapy

The main goals of treatment for Turner-Shereshevsky syndrome are to achieve acceptable growth and adequate puberty. The first is solved by prescribing growth hormone - Somatotropin until the final closure of the cartilaginous zones long bones upper and lower limbs. From the age of 12, female sex hormones - Estrogens, then Progesterone - are prescribed to initiate puberty in the body, the growth of the mammary glands and uterus, and the formation of the menstrual cycle. The drugs are taken by a woman with Turner-Shereshevsky syndrome for an average of 50 years.

Surgical treatment

Surgical treatment is performed in the following cases:

accompanying birth defect hearts;
the need to correct spinal deformity;
correction of pterygoid folds on the neck with for cosmetic purposes using plastic surgery methods;

Non-drug treatment

TO non-drug treatment Turner-Shereshevsky syndrome includes the following measures:

rational work and rest regime;
a diet with a reduced amount of carbohydrates, enriched with vegetables, fruits and vitamins;
therapeutic massage;
therapeutic exercises;
electrophoresis and magnetic therapy;
spa treatment;

Folk remedies have not proven effective in combating this disease.

Life prognosis and consequences of the disease

With timely diagnosis and adequate treatment therapeutic measures the prognosis is favorable. Patients manage to achieve acceptable growth and size of the genital organs. Life expectancy in the absence of severe anatomical anomalies in other organs does not differ from that of healthy people. A woman with Turner-Shereshevsky syndrome with a normal uterine size can become pregnant and carry a child using modern reproductive methods- fertilization of an egg taken from a donor in vitro (IVF).

Prevention

The only one effective method prevention is prenatal genetic diagnostics with determination of the chromosome set obtained from amniotic fluid. Subsequently, consultation with a geneticist is carried out.

Turner-Shereshevsky syndrome is a serious genetic disease that affects the entire body. With a timely diagnosis, patients with this diagnosis can successfully start a family and give birth healthy child using modern reproductive technologies.

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

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This disease was first described as hereditary in N.A. Shereshevsky, who believed that it was caused by the underdevelopment of the gonads and the anterior pituitary gland and was combined with congenital defects internal development. In Turner, he identified a triad of symptoms characteristic of this symptom complex: sexual infantilism, wing-shaped skin folds on the lateral surfaces of the neck and deformation of the elbow joints. In Russia, this syndrome is usually called Shereshevsky-Turner syndrome. The etiology of the disease (monosomy on the X chromosome) was discovered by Charles Ford in 1959.

Basics

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 numbers, 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 appearance 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 clinical presentation. 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 botallus, patent interventricular septum, narrowing of the aortic mouth), kidney malformations. Recessive genes for color blindness and other diseases appear.
Shereshevsky-Turner syndrome is much less common than trisomy X, Klinefelter syndrome (XXY, XXXY), and XYY, indicating 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 fetuses. 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. YO monosomy has not been detected in humans. Population frequency 1:1500.

Clinical picture and diagnosis

The lag in physical development of patients with Turner syndrome is noticeable already from birth. In approximately 15% of patients, the delay occurs during puberty. Full-term newborns are characterized by small 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 (stagnation of lymph, 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 delayed mental and speech development, which indicates developmental pathology nervous system. Most characteristic feature is short stature. The height of patients does not exceed 135-145 cm, and their body weight is often excessive.
For Turner syndrome pathological signs distributed according to frequency of occurrence as follows: 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 senility) and the 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. In Turner syndrome, there is a tendency to increase blood pressure in persons young and to obesity with tissue malnutrition. carried out with dwarfism (dwarfism), to exclude which the content of pituitary hormones in the blood, especially gonadotropins, is determined.

Treatment

At the first stage, therapy consists of stimulating body growth with anabolic steroids and other anabolic drugs. Treatment should be carried out in the minimum effective doses anabolic steroids with breaks during regular gynecological control. 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.
If, with the help of hormonal therapy, it is possible to grow to normal sizes uterus, then pregnancy in such patients is possible with the help of IVF with donor egg. Cases where eggs have been preserved are rare.
IN lately therapy is carried out to increase final growth rates