SHERESHEVSKY-TURNER SYNDROME A MODERN VIEW

Among newborns with chromosome abnormalities, about 50% are carriers of sex chromosome abnormalities. Sex chromosomes are the main carriers of genes that control sex determination and differentiation. Their numerical or structural abnormalities are compatible with life, but lead to defects and disturbances in sexual development. The most significant place among chromosomal diseases associated with X chromosome abnormalities is Turner-Shereshevsky syndrome (TS). The frequency of TS varies from 1:1500 to 1:5000 newborn girls [6, 42]. In 1925, N. A. Shereshevsky was the first to describe a 20-year-old patient with pronounced infantilism (underdevelopment of the gonads, primary amenorrhea, absence of secondary sexual characteristics) in combination with developmental abnormalities (short stature, wide skin fold on the neck, etc.). In 1938, G. Turner gave a detailed description of this condition, which was subsequently called Shereshevsky-Turner syndrome in Russian-language literature. N. A. Shereshevsky and G. Turner believed that the primary cause of the disease was a dysfunction of the pituitary gland and ovaries. In 1956, Polani and co-authors proposed a different explanation for the occurrence of the syndrome - the absence of one of the sex chromosomes.