Turner Syndrome Research Paper

The gene locus of this disease is Xp11.2-p22.1. There are many symptoms that could arise from having Turner Syndrome. The Turner Syndrome Society provides the following symptoms: short stature, a high-arched palate, retrognathia, ears protruding outward, a webbed neck (might include a lowered neckline), droopy eyes, strabismus, broad chest, cubitus valgus, scoliosis, flat feet, small and narrow fingernails, short fourth metacarpal and edema. This long list of symptoms can be intimidating, but they are definitely manageable. It is important that TS is diagnosed early in the child’s life. A diagnosis can be done before the child is even born with an amniocentesis or chorionic villus sampling. The amniocentesis or chorionic villus sampling can

retrieve fetal cells that can be used to create a karyotype that will display any chromosomal defects. TS can be diagnosed at any point of a female’s life with a blood test that can produce the same karyotype that an amniocentesis or chorionic villus sampling would provide. When a female is diagnosed with TS, there are many treatment options available that can help them lead a normal life. The treatments will depend on what complications arise with the disease. The majority of the time Turner Syndrome will cause stunted growth and problems with hormones and metabolism. Growth hormone injections and care by a pediatric endocrinologist would be the best options for keeping control and improving these conditions. Once the child reaches the age where puberty would normally start to occur, estrogen replacement therapy would be an ideal treatment option to start the development of breasts. Soon after the therapy estrogen and progesterone should be given to start the period, to keep the womb healthy and to prevent osteoporosis. Many times a baby with TS is born with a heart murmur or narrowing of the aorta. If this is the case, the child should have regular checkups with a cardiologist so that they can assess what should be done. A baby can also be born with a webbed neck. If this occurs, a simply surgery to remove the extra skin can take place. An ear, nose and throat specialist should also be very accessible because girls with Turner Syndrome are much more likely to get middle-ear infections. Regular health checkups are a necessity and should never be skipped because they can provide vital information regarding the high blood pressure and possible development of diabetes that can occur in the child. With the proper treatments a girl with TS can lead a happy almost normal life.

The life expectancy of someone with TS is actually a little less than the average person, and it can be just as long if the symptoms are under control with the treatments mentioned above. Going through life with Turner Syndrome, a female will not need a long list of medications to take. Growth hormone injections, estrogen and progesterone tend to be it for any medicinal treatments. It is definitely important that a female with TS exercises frequently and eats correctly every day to prevent obesity through life. Normally a woman with TS is infertile but she can consider an embryo donation if she really wants to have a child of her own (she should keep in mind that any pregnancy with Turner Syndrome will be at high risk). In the early life of a girl with Turner Syndrome, it is important that the child is treated with as much patience as possible. With Turner Syndrome a female has normal intelligence but it takes a lot more work to learn everything. Because of this, it is very important that the child’s teacher or caretakers are completely aware of the patience it takes to work with the child. The parents of a child with TS need to be responsible, loving and

caring. They are going to be strained financially with all of the visits to the doctor’s office and the treatments that need to take place. It is not going to be easy to care for a child with TS, but childcare is never easy, no matter the circumstances. There are many support groups that are available for both the parents and the child affected by the disorder to alleviate the emotional distress that can arise.