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Turner Syndrome

This problem is connected with the presence of only one X chromosome. We will focus on this problem, which only targets women. The development of the body is affected by this problem. The normal state is the presence of two X chromosomes, but women with this problem have only one. This medical condition has been discovered in the 1983 by a Dr. Henry and it was named Turner syndrome, but it is also called Ulrich-Turner syndrome. Classical and mosaic Turner syndromes are the two types of this condition. The mosaic Turner syndrome is associated with abnormalities located in some cells of the X chromosomes, while the classic type is connected with the absence of the whole X chromosome. The mosaic type is more benign, but the classical is more common. The problems associated with this condition are very different and they vary from case to case.

Symptoms

Although the symptoms are different from case to case, we can say that there are several common problems caused by the Turner syndrome. One of the problems is the short statute caused by the gene for the bone growth. The height of the women with this problem reaches around 4 to 7 inches. Next possible symptom is the webbed neck. Also, this condition can cause the infertility due to the undeveloped ovaries, since they are also affected by the lack of X chromosome. The problem begins when the menstrual cycle halts and this leads to the problem of infertility. But this is a symptom that not all the women will experience. In some cases, women have even become pregnant despite the Turner syndrome. Other common symptoms include upward and soft nails, irregular elbow/joint rotation, lower jaw, hearing problems, short toes and fingers, skin spots, low ears, obesity, saggy eyelids, low hairline, feet/hand puffiness and abnormalities of the skeleton. Also, kidney problems, blood pressure problems, osteoporosis, type 2 diabetes, thyroid disorder, blood vessels problem and heart defects may occur. Women with Turner syndrome are usually anxious, depressed, self-conscious and with low self-esteem. Also, mental retardation and impaired cognition are not experienced, but learning difficulties and problems with reading can be experienced. Memorizing and writing are activities that can be accomplished, so they usually find jobs doing this. Unfortunately, this genetic disorder cannot be eliminated and cured, but the symptoms may be subdued. Growth hormones can be given in the early stage and the stature will be much better. Also estrogen therapies can help, since they can also prevent osteoporosis. Egg donations and in vitro fertilization can be done if infertility is present.

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