Klinefelter's Syndrome
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Among the chromosome related ailments that haunt the human civilization, Klinefelter's syndrome deserves a special mention. It is interpreted as a type of chromosomal irregularity that has an impact on men who have one extra X chromosome. The disease can lead to the development of a range of physiological and physical attributes in a person.

The disease is not very common and on an average it impacts 1 out of 1000 men. The occurrences are intermittent but children who are born out of late pregnancy are more vulnerable to this disease. The males affected by this disorder carry a surplus X sex chromosome. Its name has originated from Dr. Harry Klinefelter who discovered this genetic ailment in 1942. Individuals, who have the extra chromosome, are called 47, XXY Males or XXY Males in medical terminologies. It is ranked as the second most usual chromosome condition.

Causes of Klinefelter's Syndrome

The males affected by the malady hold the surplus X chromosome due to a nondisjunction event that takes place during sex cell division or meiosis. The mammals who have more than a single X chromosome, get the genes on the extra chromosome suppressed which is called X inactivation.

This can happen in normal XX females and the XXY males. Nevertheless, some genes situated in the pseudoautosomal areas have matching genes located on the Y chromosome; these can be expressed. These triploid genes are thought by some to be responsible for the symptoms linked with Klinefelter's syndrome.

Klinefelter's Syndrome Symptoms

The physical attributes of people afflicted by this disease are related with sexuality and behavior. The affected boys can have smaller testicles. Its presence results in diminished sexual or endocrine activities. They also suffer from diminished fertility. Apart from these, the victims may also develop a range of behavioral and physical malfunctions. The severity of the symptoms can vary from person to person. In some instances, the signs of the ailment may not be visible prior to puberty. Some boys tend to develop a tall stature. Their arms and legs are disproportionately longer.

Some boys affected by the ailment may also exhibit signs of feminization like underdeveloped sexual organs, lesser amounts of body hair and development of breast. They may also suffer from lack of sexual appetite. The victims of the disease may also develop psychological as well as behavioral problems regarding self image. Other significant physical illnesses that are said to be caused by the disease are diabetes, thyroid disorders and osteoporosis.

People who are severely affected by this syndrome can develop more serious physical complications and diseases in the long run. They face an increased likelihood of contracting breast cancer and germ cell tumor. The females affected by the disorder have varying potential of contracting the severe diseases.

The victims of the disease sometimes suffer from difficulties related to language learning. The adult male population affected by the disorder have youthful and lanky build or somewhat rounded body structure. At least one third of the victims suffer from Gynecomastia though it is noticeable in only 10% of them.

For the purpose of diagnosis, a karyotype is used. In this method, a small amount of blood is collected from a person’s body. The white blood cells are subsequently separated from the blood sample and mingled with tissue culture medium. It is then incubated and scanned for any chromosomal irregularities.

Treatment for Klinefelter's Syndrome

The genetic variation is an unalterable procedure. As of now, there is no cure for Klinefelter's syndrome like many other chromosomal disorders. However, the researchers have tasted some amount of success with the application of the testosterone replacement therapy. Its implementation has been reported to bring a male appearance in the victim and diminish the chances of developing diseases like osteoporosis in future. The symptoms of genetic variations can be diminished to some extent by this therapy. As is the case with several genetic disorders, early detection and treatment can bring some relief to the patients of this syndrome.

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