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  • Essay / What is Turner syndrome? - 856

    What is Turner syndrome? Turner syndrome is considered a rare disease; One in two thousand female births is affected by this disease. Turner syndrome is diagnosed by a genetic test. When a girl has Turner syndrome, it is because she is missing or partially missing an X chromosome. Turner syndrome has many symptoms and traits that vary in each girl. Some of the symptoms are delayed puberty, heart defects, scoliosis, and infertility due to non-functioning ovaries. The main trait is small stature, usually less than five feet, others may include a webbed neck, numerous moles, lower ears, and a receding lower jaw ("Welcome"). Turner syndrome cannot be diagnosed without most of the symptoms or obvious genes. Genetic testing should be done to determine diagnoses and ensure that there is a missing or partially missing chromosome. There is no cure for Turner syndrome, but there is treatment to add some height to girls. Human growth hormone can be given as soon as possible to a girl diagnosed with Turner syndrome. It is injected once a day, six days a week, and is administered until the age when the girl stops growing, which is around sixteen years old. Human growth hormones should be started as early as possible so that the girl has a chance of exceeding five feet in height ("Turner"). Genetic testing should be done from an early age. Genetic testing helps determine chances or diagnose a disease. Genetic testing can be a test of your blood or tissue. Doing genetic testing at an early age can be helpful in many ways. In the case of Turner syndrome, genetic testing at an early age is helpful for treatment. A girl only has until the age of sixteen to take human growth hormone to grow taller; if diagnosed too late, she will not receive treatment for a while. Early genetic testing should be done in case the girl has to stop treatment for a while because she got sick or it did not do her any good. If a girl starts treatment too late due to a late diagnosis that can only be made after genetic testing, her treatment takes longer, which means she grows less. Getting an early diagnosis can help prepare the family for the future and what may happen. Sometimes illnesses are discovered when they are serious and there is not much time to prepare or understand and become aware of the situation, but with early diagnosis there is time. When you have early genetic testing and are diagnosed with a disease, you have time to learn more about your disease, what you have, and ways you can help treatment work better. Genetic testing should be done at an early age.