Topic > What is Turner syndrome - 1930

Introduction Turner 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, and cubitus valgus, which is when the forearm is angled away from the body more than normal. The absence of this X chromosome is accompanied by numerous health problems, which indicates that numerous specialists are needed to adequately treat this disease. These specialists include embryology, pediatrics, gynecology and obstetrics, endocrinology, cardiology, gastroenterology, ENT, and ophthalmology (Gravholt, 2005). This absence of part or all of the second X chromosome means that an important gene known as the SHOX gene is missing. The short stature homeobox gene (SHOX) is located in the pseudoautosomal region of both the X and Y chromosomes. This gene provides the instructions necessary for the production of proteins that regulate the functions of other genes. It is also important in controlling the formation of many body structures during the early stages of embryonic development. The SHOX gene is also essential for the growth and development of bones, particularly in the arms and legs. Since one of the X chromosomes is missing, the SHOX gene is insufficient and cannot carry out its actions as needed. This may explain the short stature of women with Turner syndrome, as well as changes in bone morphology and sensorineural deafness (Gravholt, 2005). The absence of the second X chromosome may also contribute to the autoimmunity that patients with Turner syndrome suffer from (Grossi et al., 2013). and more. The true prevalence of Turner syndrome is not known, but is estimated to be approximately 50 in 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 and to help BMI, cholesterol concentrations, triglycerides, and estrogen and FSH levels. Estrogen and progesterone are used to assist patients in the development of secondary sexual characteristics and to increase the size and maturity of the uterus. Unfortunately, there is an increased mortality rate in 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.