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Turner's Syndrome Essay

1165 words - 5 pages

Turner’s Syndrome, which is one of the most common chromosomal abnormalities, is defined as “a syndrome with a chromosome count of 45 and only one X chromosome.” Turner’s was first described in 1938. Henry Turner, an endocrinologist from Oklahoma City, was the first to discover this syndrome. He was curious about why seven of his female patients, six adolescents and one adult, who he was treating for dwarfism and lack of development, were not responding to the treatments. He described the women as not matured, with short necks and low hairlines in the back, and an increased angle at which the elbow was bent. After many tests, the results showed that all of the women were missing an X ...view middle of the document...

Some of these cells have both X chromosome copies, and other cells have one X chromosome with and altered X chromosome copy. In Y chromosome material, some cells have just one X chromosome copy, but other cells have just one X chromosome copy but also have some Y chromosome material. This means that the individual develops as a female. However, she has a higher risk of developing gonadoblastoma, which is a rare tumor that affects patients who have an intersex or sex development disorder.
There are many different signs and symptoms of Turner’s, all of which occur during a certain time frame in a girl’s life. Three of the signs and symptoms that occur before birth are: Lymphedema, which means that fluid is not properly transported around the organs of the body. Also, excess fluid leaks into surrounding body tissue, which causes swelling. Other signs or symptoms before birth are thick neck tissue and swelling of the neck. Signs and symptoms that occur after birth or during infancy are: broad chest, arms that turn outwards at the elbows (also known as cubitus valgus), drooping eyelids, fingernails that turn upwards, a high, narrow roof of mouth, low set ears, receding lower jaw, short and swollen hands and feet, a wide, web-like neck with a low hairline in the back of head, and slower or delayed growth.
However some of the signs and symptoms don’t develop until later on in development. One of these is growth spurts. The girl will be of average height until she is about three, and after that her growth rate will be below average. Another later occurring sign or symptom is learning difficulties, such as: problems with math, spatial concepts, which means that she may not understand the reason for using under, in front of, under, or near when talking about something in relation to something else, memory skills, and fine finger movements. However she will have good verbal and reading skills. Even the girl may have good verbal skills, social problems may develop. She may have difficulty interpreting and understanding other people’s reactions or emotions. Non-functioning ovaries are one of the major signs and symptoms of Turner’s. The generally results in infertility, and only about 0.5% of girls who have Turner’s can conceive naturally without fertility treatments.
There are three factors that affect the prognosis of a woman with...

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