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  • Essay / What is Turner syndrome - 1930

    IntroductionTurner syndrome is a genetic disorder characterized by the absence of part or all of the second X chromosome in women. Women with Turner syndrome typically have short stature, sexual infantilism, congenital neck strapping, and ulna valgus, which is when the forearm is angled more than normal relative to the body. . A number of health problems accompany the absence of this X chromosome, indicating that a large number of specialists are needed to properly treat this condition. These specialists include embryology, pediatrics, gynecology and obstetrics, endocrinology, cardiology, gastroenterology, otolaryngology, and ophthalmology (Gravholt, 2005). This absence of all or part of the second X chromosome means that an important gene known as the SHOX gene is missing. . The small homeobox (SHOX) gene is located on the pseudoautosomal region of the X and Y chromosomes. This gene provides the instructions for making proteins that regulate the functions of other genes. It is also important to control the formation of many body structures during early embryonic development. The SHOX gene is also essential for the growth and development of bones, particularly in the arms and legs. Genetics Home Reference. Because one of the X chromosomes is missing, the SHOX gene is insufficient and cannot perform its actions as well as necessary. This may explain the short stature of women with Turner syndrome as well as changes in bone morphology and sensorineural hearing loss (Gravholt, 2005). The absence of the second X chromosome may also contribute to the autoimmunity suffered by patients with Turner syndrome (Grossi et al., 2013). .....onal problems, and more. The true prevalence of TS is unknown, but is estimated to be approximately 50 per 100,000 women. Hormone replacement therapy is the main treatment option for women with Turner syndrome. Growth hormone, estrogen and even progesterone are used to help patients cope with the disease. Growth hormone is used to increase height in women as well as to improve BMI, cholesterol concentrations, triglycerides, and estrogen and FSH levels. Estrogen and progesterone are used to help patients develop secondary sexual characteristics as well as increase uterine size and maturity. Unfortunately, there is an increased mortality rate among women with Turner syndrome. Managing the complications that can accompany TS is the only way to live with the disease. Turner syndrome cannot be cured, but with proper care and treatment it can be managed..