Turner's syndrome

August 12, 2017 17:52 | Genetic Diseases


Syndrome Turner was first described in 1925 by German scientist NA Cheret-Sheva, and full clinical manifestations have been described X. X. Turner in 1938. In their honor, and he was named.The frequency of occurrence of the disease - 1 child in the 2000-5000 female births.

should be noted that the overwhelming majority of such children, and 95% die in utero.For the disease characterized by a triad of symptoms:

1) underdevelopment of secondary sexual characteristics (lean body hair pubes and armpits, hypoplasia of the mammary glands);

2) numerous defects fetal development;

3) characterized by a low height (approximately 25 cm below average performance).

In children with Turner's syndrome in the first year of life can be identified lymphatic edema of upper and lower limbs, as well as a short neck with a characteristic wing fold.

on the skin of sick children have a large number of moles of different size, the chest has a sheet shape, the nipples are usually widely separated.Ear shells often have def

ormed shape.Face large

sed children compared with a mask or face of the sphinx.This similarity is due to the presence of a broad nose, upper eyelid ptosis, eye slits have antimongoloidny incision on the neck has a lower limit of the hair growth.

part of the reproductive system in women with this syndrome include the following pathologies: the uterus and the fallopian tubes are underdeveloped, the sick are infertile, there is a lack of menstruation, secondary sexual characteristics are poorly expressed.

frequent pathologies from the urine-excretory system: kidneys revealed a doubling, ureters, kidneys may be horseshoe-shaped, bean-shaped normal.

the part of the musculoskeletal system are identified: X-shaped curvature of the upper and lower limbs, the chest has the shape of a shield (barrel) are often detected bone loss (osteoporosis), bone shortening the feet and hands.In half the cases marked mental retardation.

diagnosis of the disease must necessarily be based on the data of cytogenetic studies.

Syndrome Treatment Turner made up of conservative and operative methods.From the conservative methods of treatment used hormone replacement therapy, counseling therapist, creation of protective mode, nutritious food.Operational

treatment used to eliminate the identified structural defects of the internal organs.