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 completely cure such a disease, with the help of correctly selected treatment it is possible to 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 normal. But for some reason, the so-called reverse development occurs in the second half of pregnancy, as a result of which the number of cells decreases rapidly or they disappear altogether.
Pregnancy is often accompanied by severe toxicosis up to the risk of miscarriage. In turn, childbirth is either pathological or occurs prematurely.
Shereshevsky-Turner Syndrome: symptoms
In fact, the symptoms of such a disease can have a different degree of severity - it all depends on the change in the chromosome and the features of intrauterine development. In some girls, signs of disturbance can be seen already in the first weeks of life - in newborns a short neck with characteristic pterygoid skin folds. Early symptoms include a wide chest and tightly drawn in nipples.
As the child grows, the manifestations of Shereshevsky-Turner syndrome become more pronounced. First, growth retardation is observed - the growth of sick girls is not normal. The disease is characterized by an abnormal structure of the auricles, as well as a low hairline on the back of the head.
Due to the absence of the sex chromosome, the development of the reproductive system is incorrect - the ovaries are either completely absent or do not fulfill their functions. Therefore, patients do not have a period of sexual development, there are no secondary sexual characteristics. Sick girls are sterile and suffer from amenorrhea.
For Shereshevsky-Turner syndrome, persistent edema of the extremities and narrow, nail plates literally pressed into the skin are also characteristic. In about half of cases, hearing loss is observed. Some patients have congenital heart defects (aortic enlargement, valve pathology) and kidneys.
Treatment of Shereshevsky-Turner syndrome
Unfortunately, it is impossible to eliminate the genetic disorder. Nevertheless, sick girls just need treatment. Proper therapy eliminates the main symptoms. If there are problems with the heart, then constant monitoring by a doctor and, if necessary, surgical intervention are indicated.
In addition, growth hormones are being treated . 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 severe edema, special compression stockings are used.
Although such a disease deprives a woman of the opportunity to have her own children, well-conducted treatment allows you to lead a normal life.