Genetic diseases

Turner Syndrome

Syndrome Turner

Turner syndrome photo Turner syndrome - a genetic disease hereditary nature, which resulted in violations occur in the structure of the X chromosome, accompanied by abnormalities of the internal organs, and short stature.It is a hereditary disease as described in 1925 by endocrinologist Shereshevskii, according to which, it is due to incomplete development of the anterior pituitary lobe and his gonads with simultaneous congenital physical nature.But already in 1938, Turner was allocated additional three symptoms to common signs of the disease.These include strains elbows available on the skin in the form of skin folds wings and sexual infantilism.

Turner Syndrome causes

chromosomal abnormalities of the fetus is the basis of the causes of this disease, which leads to severe pregnancy and premature birth, resulting in a child is born, having Turner syndrome.This anomaly is detected, regardless of age or some pathological diseases parents.Therefore, a set of abnormal chromosomes is the basis of t

he syndrome.This defect occurs when nondisjunction mother or father.

in healthy humans is forty-six chromosomes, and patients with Turner's syndrome, have one chromosome, it simply does not exist.Instead of double-XX chromosomes, which are inherent to women, it contains only one X chromosome forty-fifth (CW).If the chromosome is completely absent or is subject to change, then it disrupted the formation of enzymes and proteins in the body, resulting in an overall imbalance.This pathology is one of the forms of cytogenetic Turner's syndrome.

But most often found the second option - is mosaicism, which is characterized by structural rearrangements isochromosome localized on the long arm of the X chromosome.Therefore, if the main reason for the development of Turner's syndrome - a violation in the karyotype, already these changes may cause different effects of ionizing radiation on cells during division, harmful toxic substances and disposition of the body at the genetic level to the formation of abnormal chromosomes etiology.

Syndrome Turner symptoms

Syndrome Turner has major clinical and pathophysiological features, including, first and foremost, dysplasia, premature ovarian failure, congenital malformations from the cardiovascular and urinary systems, skeletal defects, lymph swelling of hands and feet, pathology of vision and hearing, as well as metabolic and physiological changes.

Almost 95% of cases with Turner's syndrome revealed short stature.The end result is the average value growth of 140-147 cm. Stunting at this syndrome is caused by a set of skeletal dysplasia with disorders in the chromosomes, and intrauterine growth retardation.

Violations occurring in gorminativnom epithelium, leading to primary gonadal failure and gonadoblastome.25% of girls with Turner's syndrome occurs spontaneous puberty, having the mosaic variant karyotype.Basically it is full, and therefore does not allow normal functioning ovaries and long.

puberty also characterized by the absence of secondary sexual characteristics.Absolutely not developed breasts, revealed amenorrhea and scant body hair pubis, external genitalia are underdeveloped.Very rarely detected follicles, causing the impossibility of procreation.Lack of estrogen in women develop osteoporosis, which causes frequent fractures of the hip, spine, wrist.

Very often patients Turner's syndrome complain of increased blood pressure.In addition to the legs is below normal, or, in general, not determined.

main cause of death in patients with Turner's syndrome is a dilated aortic rupture.Also, many patients detect coarctation of the aorta (provokes pressure) and bicuspid aortic valve.

common phenomenon in this disease are the pathology of the urinary system.On US reveal malformations in the form of a double kidney and malrotation.Also found bilateral renal hypoplasia, change the number of arteries and veins on them, double ureter and renal pelvis.Typically, such modifications do not destroy the function of the urinary system, but leads to hypertension and cause the development of many diseases.

When lymphostasis in patients with Turner's syndrome marked swelling of the hands and feet, which disappear with age, the wing folds on the neck, nail dysplasia, abnormalities in the development of the ears.

typical feature of Turner's syndrome is considered abnormal elbow, bending shins, the presence of shortened fourth and fifth fingers.A frequent pathology of patients is considered to hip dysplasia, scoliosis, Gothic palate, sometimes abnormalities in the growth of teeth, infantile physique with mature features.Visually, the skin visible spots, neurofibromas and vitiligo.On examination, the patient showed a slight anomaly in the development of the eye in the form antimongoloidnogo cut.

Patients with Turner's syndrome in their behavior resemble small children, though facial expressions and facial expressions reflect the adult.

Turner syndrome diagnosis

newborns to diagnose Turner syndrome is difficult, but after the first year of life, with the emergence of phenotypic traits, it becomes quite possible.For the diagnosis is necessary to conduct molecular cytogenetic analysis, to exclude mozatsizma.

diagnosis of Turner's syndrome is in the process karyotype analysis, detection of somatic anomalies and laparotomy.The carriers of this pathology are under regular supervision of the oncologist as not developing gonads can develop into dysgerminoma or gonotsitomy.

In analyzing the blood of patients Turner's syndrome show a decrease in the amount of estrogen at elevated pituitary hormones (follicle stimulating hormone).On US - hypoplasia of the uterus and no ovaries.When X-ray examination of bones and osteoporosis identify different types of skeletal anomalies.Very often, to join the main disease and other diseases of the internal organs.

Turner syndrome treatment

Primarily treatment of Turner's syndrome begin to use growth promoting therapy.This is necessary in order to normalize the growth at an earlier age, puberty is also induktsirovat normal period and finally to achieve significant results in growth.

Today there is an effective and safe drug used for the treatment of patients with Turner's syndrome - a recombinant growth hormone (RGR).Geneticists have shown that the use of high doses of RGR possible to increase the growth of 157-163 patients to see. In the first year of treatment observed in the growth of the maximum speed of 8 to 15 cm, and then it comes to the reduction of 5-6 cm per year.

Sooner begun regularly scheduled treatment of Turner's syndrome gives a positive result in the growth of socially significant long these patients.

addition to increasing growth in the use of the recombinant hormone, positive dynamics of the hormonal, metabolic and psychological background.

Simultaneously, the drug is prescribed for patients Growth hormone, which increases muscle mass, improves renal blood flow, increases cardiac output, increases calcium absorption in the intestine and bone mineral enriched.As a result of reduced blood lipoprotein levels, and alkaline phosphatase levels, fatty acids, urea and phosphorus are increased up to the standards.Patients with Turner's syndrome feel increasing vitality, and their lives greatly improved.

induction of puberty carried out by using drugs with estrogens, which mimic the normal sexual development.If before estrogen replacement therapy began with fifteen years in order to optimize the growth potential at the moment of the final data of the International Consensus on the treatment of Turner's syndrome, decided to start estrogen therapy to twelve simultaneously with RGR.This is due to the positive proven therapy of these hormones.But with the delay of puberty, which contributes to the manifestation of early ovarian failure, may increase the negative psychological state of these patients.

Many women with Turner's syndrome after such treatment a chance to have a baby.In fact, after the use of growth hormones is increased to its normal size and the uterus, allowing the baby bear.This is done using IVF with donor eggs.

now been developed a variety of corrective treatment of Turner's syndrome.For example, to regulate the body's energy system used acupuncture.It helps to normalize metabolic processes, improves the function of autonomic-endocrine organs, restores the balance of the whole organism.Acupuncture - is one of the unique methods of therapy which improves microcirculation bioliquid systems and organs, helps to better functioning brain and heart, has an analgesic effect in the body.

syndrome Turner has a visual flaw on the neck in the form of additional skin folds, which can be removed by surgery, cosmetic surgery.

For removal of dyspnea to many patients prescribed physiotherapy courses.In a particular case - is moistened oxygen inhalation.It is also very good help and physiotherapy, which includes specific exercises aimed at specific groups of muscles (respiratory, hands or feet).These exercises can be both active (performed by the patient) and passive (using a health professional or by helping yourself healthy part of the body).

Thanks to such comprehensive treatment life with Turner's syndrome get much better.

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