Causes, Symptoms and Treatment of Shereshevsky-Turner Syndrome

The cases of Shereshevsky-Turner syndrome are quite rare in modern medical practice. This is a genetic disease that is accompanied by quantitative or structural changes in the set of sex chromosomes. And although it is impossible to cure such a disease completely, with the help of correctly selected treatment one can get rid of some symptoms and improve the patient's quality of life.

Shereshevsky-Turner Syndrome: causes

As already mentioned, this is a genetic disease that is associated with the complete or partial absence of one X chromosome in girls. Unfortunately, the reasons for such changes are not yet fully understood.

Primary germ cells in embryos are laid normally. But for some reason in the second half of pregnancy there is a so-called reverse development, as a result of which the number of cells rapidly decreases or they disappear altogether.

Pregnancy is often accompanied by severe toxicosis right up to the threat of miscarriage. In turn, childbirth is either pathological, or comes earlier than time.

Syndrome Shereshevsky-Turner: signs

In fact, the symptoms of such a disease can have a different degree of severity - everything here depends on the changes in the chromosome and the characteristics of intrauterine development. In some girls, signs of impairment can be noticed already in the first weeks of life - the newborns have a short neck with characteristic pterygoid skin folds. To the early symptoms can also be attributed to the broad chest and strongly retracted nipples.

As the child grows, the manifestations of the Shereshevsky-Turner syndrome become more and more obvious. First, there is a delay in growth - the growth of sick girls does not correspond to the norm. The disease is characterized by an abnormal structure of the auricles, as well as a low line of hair growth on the occiput.

Because of the absence of the sex chromosome, there is an abnormal development of the reproductive system - the ovaries are either completely absent or do not fulfill their functions. Therefore, patients do not enter the period of sexual development, there are no secondary sexual characteristics. Sick girls are sterile and suffer from amenorrhea.

Shereshevsky-Turner syndrome is also characterized by persistent swelling of the extremities and narrow, literally pressed into the skin nail plates. Approximately half of the cases show a deafness. Some patients have congenital heart defects (aortic dilatation, valve pathology) and kidneys.

Treatment of Shereshevsky-Turner syndrome

Unfortunately, it is impossible to eliminate the genetic disorder. Nevertheless, sick girls simply need treatment. Correct therapy allows you to eliminate the main symptoms. If there are problems with the heart, it shows a constant observation by the doctor and, if necessary, surgical intervention.

In addition, treatment is carried out with the help of growth hormones. And in the teenage period, girls are injected with sex hormones, which contribute to the normal development of secondary sexual characteristics. In the presence of strong edema, special compression stockings are used.

Although such a disease deprives a woman of the opportunity to have her own children, a properly conducted treatment allows for a normal life.