Turner's syndrome or Turner-Shereshevsky syndrome is a rare genetic disease that is the result of an anomaly of the X chromosomes and occurs only in women. The triad of signs of this pathology according to Shershevsky included sexual infantilism, pterygoid skin folds on the neck and deformity of the elbow joints. Women who suffer from Turner syndrome usually experience stunting and infertility .
Shereshevsky-Turner Syndrome - reasons
As a rule, the Y-chromosome set of a man consists of 46 (23 pairs) of chromosomes. Of these, one pair consists of sex chromosomes (XX in women or XY in men). In the case of Turner's Syndrome, one of the X-chromosome pairs is missing completely or damaged. What exactly is the cause of the genetic anomaly that causes Turner's syndrome is not exactly established, since although the disease manifests itself at the stage of fetal formation, it is not hereditary.
The presence of the syndrome is confirmed by the analysis of the karyotype, that is, the definition of the genetic set of chromosomes. The following chromosomal abnormalities can be observed:
- The classical karyotype for the Turner syndrome is 45X, that is, the complete absence of one X chromosome. This karyotype is observed in more than 50% of patients, and in 80% of cases there is no paternal X chromosome.
- Mosaic - that is, damage to areas of one or more chromosomes in a mosaic type.
- Structural rearrangement of one of the X chromosomes: the annular X chromosome, loss of the chromosome of the short or long arm.
Syndrome Shereshevsky-Turner - symptoms
Often a delay in physical development is noticeable even at birth - this is a relatively small height and weight of the baby, it is also possible to deform the elbow joints (they are concave inwards), swelling of the feet and palms, and the presence of the pterygoid skin folds on the neck.
If Turner's syndrome was not diagnosed soon after birth, then later it manifests itself in the form of the following characteristic signs:
- growth retardation, usually the growth rate drops sharply after three years;
- chamfered lowered chin;
- short wide neck, often with leathery folds;
- a low line of hair growth in the occipital region;
- wide chest with widely spaced, sometimes deformed nipples;
- protruding and abnormal shape of the auricle, frequent ear disease;
- delay in puberty;
- underdeveloped breast in adolescence (about 13 years);
- absence of the menstrual cycle.
Approximately 90% of girls with Turner's syndrome have a uterus and the ovaries are underdeveloped, and they are infertile even with timely treatment and hormonal therapy that helps to eliminate delays in physical development.
Delays in intellectual development are usually not observed, although attention deficit disorder is possible and, in rare cases, certain problems associated with mastering exact sciences requiring increased attention.
Syndrome Shereshevsky-Turner - treatment
The main goal of treatment in the presence of Turner's syndrome is to ensure normal growth and sexual maturation of the girl . The earlier the disease is detected and the treatment is started, the more chances for a normal development of the patient.
For this, first, hormone therapy is used, and with the puberty period, a female hormone, estrogen, is added to it.
After achieving puberty, combined hormone replacement therapy or estrogen and progestin therapy is performed.
Despite the fact that during the therapy patients can develop normally and lead a normal sexual life, they are mostly fruitless. The ability to give birth to a child with the use of complex therapy is available only in 10% of women suffering from Turner's syndrome, and then with a karyotype in a mosaic type.