Turner Syndrome

Shereshevsky-Turner syndrome was first described in 1925 by the German scientist NA Sherezhevsky, and complete clinical manifestations were described by X. X. Turner in 1938. In their honor he was named. The frequency of occurrence of the disease is 1 child of the female for 2000-5000 newborns.

It should be noted that the overwhelming number of such children, up to 95%, die in utero. For this disease is characterized by a triad of symptoms:

1) underdevelopment of secondary sexual characteristics( sparse hair embolism of the pubis and axillae, underdevelopment of the mammary glands);

2) multiple defects of intrauterine development;

3) is characterized by low growth( about 25 cm below the average).

Children with Shereshevsky-Turner syndrome already in the first year of life can detect lymphatic edema of the upper and lower extremities, as well as a short neck with a characteristic pterygoid fold.

On the skin of sick children there are a large number of birthmarks of various sizes, the thorax has the form of a shield, the nipples are usually widely spaced. The auricles often have a deformed shape. The face of pain is compared to a mask or face of a sphinx. This similarity is due to the presence of a broad nose, the lower eyelids, the eye slits have an antimonyholoidal incision, and there is a low border of hair growth on the neck.

On the part of the reproductive system in women with this syndrome, the following pathology is noted: the uterus and uterine tubes are underdeveloped, the patients are infertile, there is no menstruation, secondary sexual signs are poorly expressed.

Often there is a pathology from the side of the urine-excretory system: a doubling of the kidney, ureters is revealed, the kidneys can have a horseshoe shape, normally bean-shaped.

The musculoskeletal system reveals: X-shaped curvature of the upper and lower extremities, the thorax has the form of a shield( barrel-shaped), often the rarefaction of bone tissue( osteoporosis), shortening of the bones of the feet and brushes. In half of the cases, mental retardation is noted.

The diagnosis of this disease must necessarily be based on cytogenetic research.

Treatment of the Shereshevsky-Turner syndrome consists of conservative and operational methods. From conservative methods of treatment, hormone replacement therapy is used, counseling of a psychotherapist, creation of a protective regime, adequate nutrition. Operative

treatment is used to eliminate identified structural defects from the internal organs.