Topic > What is Turner syndrome? - 856

What is Turner syndrome? Turner syndrome is considered a rare disease; one female in two thousand is affected by this disease. Turner Syndrome is diagnosed with a genetic test, when a girl has Turner Syndrome it is because she is missing or partially missing an x ​​chromosome. Tuner 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 characteristic is short stature, usually less than five feet tall, others may include webbed neck, many moles, lower ears and receding lower jaw ("Welcome"). Turner syndrome cannot be diagnosed without most obvious symptoms or genes. A genetic test must be performed to determine the diagnosis and ensure that there is a missing or partially missing chromosome. There is no cure for Turner syndrome but there is a treatment to add some height to girls. Human growth hormone can be given to a girl diagnosed with Turner syndrome as soon as possible. It is injected once a day, six days a week, and is given until the girl stops growing, which is around sixteen. It is necessary to start therapy with human growth hormones as soon as possible so that the girl has a chance to grow taller than five feet ("Turner"). Genetic testing should be done at an early age. Genetic testing helps determine the possibilities or helps diagnose a disease or illness. The genetic test can be a blood or tissue test. Undergoing a genetic test at an early age can be beneficial in many ways. With Turner syndrome, a genetic test at an early age is helpful for treatment. A girl only has until she is sixteen to take human growth hormone to grow; if it is diagnosed too late it won't... middle of paper... cure for a while. An early genetic test should be done in case the girl needs to stop the drugs for a while because she has become ill or because it has not done her any good. If a girl starts treatment too late due to a late diagnosis that can only be made after a genetic test, more time is taken away from treatment and this means she will grow less. Getting an early diagnosis can help prepare your family for the future and what's to come. Sometimes illnesses or ailments are discovered when they are serious and there is not much time to prepare or understand and be aware of the situation but with early diagnosis there is time. When you undergo early genetic testing and are diagnosed with a disease, you have time to learn about your disease and be aware of what you have and how you can help the treatment work better. Genetic testing should be done at an early age.