Turner Syndrome

April 19, 2013

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Turner Syndrome   ( gonadal dysgenesis )   - A condition in which there is abnormal development of the sexual glands. It provokes sex chromosome abnormalities .

Turner Syndrome According to the data of medical statistics, found in one of the four million newborn girls and is considered one of the most common chromosomal abnormalities in women. For the first time this pathology was described in 1926 .

Signs

The first signs of the development of the sex glands are observed in the early stages of fetal development of the embryo. In the process of dividing germ cells is a violation of the parents in the divergence of sex chromosomes. The germ of such violations receives only one X-chromosome . As a consequence, it has been an incomplete set of chromosomes.

The lack of any changes in the sexual maturation of ovarian chromosome is broken, which leads to a complete absence of normal puberty or partial ripening. As a result, the girl can develop infertility .

If a newborn is marked Turner's syndrome, in most cases, there are only very slight signs of pathology. But sometimes the girls present expressed dorsal Lymphedema Brush feet and hands. It may also be skin folds lymphedema or back of the neck. In a sick child says underdevelopment of genitals . The girl has no ovaries. Also underdeveloped uterus.

Among the signs of abnormal when this syndrome may also occur wing folds neck. Patients too broad chest and widely planted inverted nipples. These girls tend to have lower growth than their relatives. In addition, the symptoms of this disease are sometimes lymph edema rear of the hands and feet, abnormal shape of the ears, which are often protruding and marked hearing loss, slow hair growth.

Less common symptoms in this case are ptosis Very low line of hair growth on the back of the neck, a large amount of pigment nevi Very short fourth metacarpal and metatarsal bones, a special form of the fingertips - they act and have curls at their fingertips. It may also occur hypoplasia of nails and valgus deviation of the elbow.

Causes Turner syndrome and sometimes provoke a manifestation of some of the anomalies of the heart. This may be a butterfly valve of the aorta, coarctation of the aorta. As a consequence, can occur with age hypertension . Often there are also anomalies of the kidney, gastrointestinal tract, and hemangioma. In some cases, the disease is accompanied by strabismus, blindness, ptosis century . Treatment of Turner syndrome does not allow to get rid of the associated diseases.

Mental development when this pathology is normal. But many patients reduces some perceptual possibilities. Another important symptom of this syndrome is a premature aging, the first signs of which can be observed as early as adolescence.

Gonadal dysgenesis   (replacement of bilateral ovarian strands of fibrous stroma, with no developing germ cells) occurs in approximately 90% of patients . As a result, the girls in their teens do not increase breast cancer observed amenorrhea . However, about 10% of the girls observed spontaneous menarche . In very rare cases, women with Turner's syndrome is marked fertility. As a rule, they are sterile. Classification of gonadal dysgenesis is carried out depending on the particular manifestations of the disease. Provided it typical . erased   and mixed   form.

Diagnostics

Turner syndrome in newborn girls that suggest lymphedema   either wing folds on the neck. If no such indication, the suspicion of this disease can appear later as stunting, amenorrhea, and in the absence of puberty . Karyotype   It allows you to confirm or deny such a diagnosis. In general, the diagnosis allows the presence of clinical characteristic of the disease.

In order to detect congenital heart defects conducted MRI or echocardiography. Also some specific survey carried out, in particular, cytogenetic study . Blood tests during the development of this demonstrates the reduction in the number zaboelvaniya estrogen   and thus a high content of hormones pituitary . When X-ray examination is often defined osteoporosis And developing skeletal pathology. In addition, the diagnostic process is carried out and a survey aimed at identifying comorbidities.

Also in modern medicine practiced screening test Which give the opportunity to learn about the risk of having the fetus Turner's syndrome .

Treatment

Unfortunately, the treatment of this particular genetic disorder exists. Turner syndrome is treated by applying correction stunting and foster the emergence of a female patient of secondary sexual characteristics. Unless Turner's syndrome   manifest severe short stature, the doctor after a thorough diagnostic prescribes treatment with recombinant human growth hormone. Hormone drug is administered subcutaneously every day.

Doctor adequately assess the patient's condition when she reaches adolescence. A pronounced lack of secondary sexual characteristics, even sometimes defined on the photo. When she turns 12-13 years, the attending doctor prescribes estrogen substitution therapy. For this purpose the Conjugated Estrogens   or micronized estradiol . Next to the development of secondary sexual characteristics girl should regularly use oral contraceptives, which contain progestin . Treatment with growth hormone and sex hormones practiced up to the period when the closed area growth. Proper treatment of Turner's syndrome makes it possible to ensure the normal development of the skeleton and optimal bone density. It is important to achieve so that features of the syndrome were not expressed frequent fractures and osteoporosis.

Causes Turner's syndrome   often provoke the manifestation of pathologies and other systems. Very often suffer cardiovascular system. Sometimes in such cases it requires surgical treatment. Surgical treatment is practiced, if diagnosed with coarctation of the aorta. Sometimes the presence of certain heart defects practiced only dynamic monitoring.

When other related diseases taking the necessary measures. For example, if a patient is diagnosed lymphedema, it is recommended to wear compression stockings.

When Turner's syndrome patient can live almost a full life. However, childbearing, usually in such a case is impossible.

The syndrome Bonnevie-Ulrich

The syndrome Bonnevie-Ulrich   It is defined as embodiment Turner syndrome . It manifests itself as a consequence of the numerous defects of fetal development. There are two types of the syndrome. The symmetrical shape of bilateral endocrine genesis - a combination syndrome Bonnevie-Ulrich   and Turner's syndrome . One-sided asymmetrical shape is defined as a simple syndrome Bonnevie-Ulrich Which is also called the syndrome " multiple abortions ".

When the manifestation of the syndrome must sign it is the presence of the wing folds on the neck. In addition, the patient noted dysmorphia maxillofacial type paresis and paralysis of the motor nerves, the deformation of the ears, swelling of lymph feet and hands, congenital hip dislocation. Observed defects of as in Turner syndrome , There may be a number of malformations of the heart, blood vessels, and others. Symptomatic treatment. Typically, surgery is necessary, associated with the correction of congenital abnormalities.