Turner syndrome

Shershevsky-Turner syndrome is a chromosomal disease, which is accompanied by specific abnormalities in physical development. It can also lead to sexual infantilism.

The disease was described back in 1925. It is named after the doctor (NA Shereshevsky), who compiled this description. In 1938, Turner conducted an additional study, which helped identify a triad of symptoms of the disease. Among these symptoms was sexual infantilism, deformity of the elbow joints, pterygoplasty skin folds that arise on the neck.

Syndrome Shereshevsky-Turner, an abstract about which can be found on the Internet, is still a mysterious disease, since it is not established the exact reasons for its appearance. It is established only that his appearance is due to the way pregnancy passes and the birth itself. The underdeveloped sex glands in people with this syndrome are explained by a defect in the sex chromosome.

Turner syndrome: symptoms

The embryo, as a rule, has no anomalies in the reproductive cells , their number corresponds to the norm. In the second half of pregnancy, one can observe their rapid involution, that is, reverse development. By the time of delivery, the number of boils in the ovary is below normal. In some cases, they are completely absent. As a result, there is a pronounced lack of female sex hormones, you can observe the symptoms of sexual underdevelopment. Virtually all patients with this syndrome are infertile.

Chromosomal changes lead to various malformations. The development of these defects is also affected by concomitant mutations.

The sex glands in this disease are undifferentiated connective tissue bands that do not contain gonadal elements. Significantly less common are the testicles and rudiments of the ovaries. In rare cases, it is possible to observe rudiments of the vas deferens.

Turner's syndrome leads to a change in the osteoarticular system: fingers, feet, palms are shortened, wrist joint is deformed, vertebrae are destroyed.

The syndrome can cause heart disease, kidneys and large vessels. A characteristic sign of the disease is the skin folds on the neck.

Patients have lagged behind since birth. In newborns, you can see excess skin on the neck, the sucking reflex is usually broken, they often vomit, and regurgitation occurs as a fountain.

In addition to the deviation in physical development, there is a deviation in mental development. In the nervous system, there are always some pathologies.

Turner's syndrome makes people stunted. They rarely grow more than one and a half meters. Body weight is redundant.

Sexual underdevelopment in this case is very, very peculiar. You can often see the geradermia, and the genital large lips can have a scrotal appearance, the entrance to the vagina becomes wavy, the small labia are most often underdeveloped.

Undeveloped are the mammary glands, the nipples are almost always located low. It is possible to observe uterine underdevelopment.

Turner's syndrome does not greatly weaken the intellect, but you can observe a kind of euphoric infantilism.

Diagnosis, as well as treatment

The basis of the diagnosis are the characteristic clinical features. Sometimes for a diagnosis, blood is taken for analysis.

Treatment is always lengthy. At the first stage, all the forces need to be spent on stimulating growth. To do this, use anabolic drugs and steroids. In this case, constant gynecological control is important.

The main therapy is estrogenization. It can only be held from the age of fourteen. Treatment leads to the fact that the body, as well as secondary sexual characteristics begin to develop.

Relative to life, the prognosis is very favorable. The exception is only patients with heart disease. Timely hormone treatment can help to defeat infertility.