Turner Syndrome
摘要
Turners syndrome is a rare genetic disorder, caused by the loss of second sex chromosome materials partially or entirely in women, and its incidence rate is 1 among 2500 female live births (Paolucci and Bamba 2017). Turner syndrome is characterized by short stature, delayed pubescence, congenital webbed neck, attenuating ovarian development, hypogonadism, sterility, high risk of cardiovascular accidents, metabolic dysfunction, and inability to respond to the autoimmune system. These are all conditions closely related to the loss of “X” chromosome. A century ago, Henry Turner (1938) accuracy described, Turner syndrome, by involving seven affected participants with an age group of 15–23 years, who were sought for treatment for their dwarfism and to induce secondary sexual characteristics (Turner 1938). Pituitary extract therapy was administered; however, the results were unsuccessful. Turner syndrome is mostly influencing the development of sexual characteristics in women. Usually, in ovarian development, the ovary develops initially, followed by the oocytes, whereas, in Turner syndrome, oocytes degenerate before maturation, and ultimately die, before birth. Several patients with Turner syndrome did not achieve pubescence and advocated hormone therapy, resulting in sterility in the majority of cases. Nevertheless, some patients with Turner syndrome sustain typical ovarian functionality until young adulthood (Bahíllo-Curieses et al. 2016). The diagnosis of Turner syndrome can be made prenatally, in the infancy stage, or in first stages of childhood. In certain cases, mild symptoms and trace signs of Turner syndrome could be diagnosed in adolescence or young adulthood periods.