Klinefelter’s Syndrome Key Facts

“Harry Fitch Klinefelter specialized in endocrinology and rheumatology (weak bones) and through his studies Klinefelter’s syndrome was described in 1942,” (Encyclopedia Britannica). The diagnosis of the patient is usually done at a young age through a series of many tests, one in which the doctor finds if the patient has two X-Chromosomes and one Y-Chromosome. As a random genetic mishap during the formation of the fetus, Klinefelter’s has many symptoms. The treatment is not all that complicated if one were to be tested at a young age. Through learning about the definition and diagnosis, the symptoms and causes, and the treatment and other effects of Klinefelter’s syndrome; science can help all those who are affected with double XY chromosome disorder. Klinefelter’s syndrome is diagnosed and defined through seeing several symptoms in the child or adult in question of the disease. Klinefelter’s syndrome is defined as, “An abnormal condition in a male characterized by usually two X and one Y chromosomes,” (Encyclopedia Britannica).

To diagnose a person, tests are usually done at a young age on the male [about two to three days old]; these tests may harm the child but are beneficial. Hormone testing and chromosome analysis through karyotypes are common tests for this genetic disorder. “Hormone testing is a specimen sample that shows abnormal hormone levels of testosterone in the male that concludes the symptoms of Klinefelter’s,” (Nippoldt). Chromosome analysis follows the first test to check the shape and number of the chromosomes of the affected person. Early treatments will better benefit the male affected with Klinefelter’s syndrome, and will also reduce the symptoms of this genetic disorder.

Several symptoms of this random disorder can lead to later problems in life. This disorder is an effect of a random event that happens when the DNA of the zygote is first developed through nondisjunction. “About 60% of embryos do not survive during fetal development,” (Beltz, and Frey). Summarized, the symptoms of a person affected with Klinefelter’s syndrome are a less muscular body, little to no body or facial hair, sterility, abnormal amount of breast tissue for a male, and learning disabilities. In other words, men or boys that are affected with Klinefelter’s syndrome are men that are women-like. Most of these symptoms are shown during the time of puberty in a young man’s life. “The symptoms that lead to the diagnosis of this disorder in an older male are gynecomastia and infertility,” (Beltz, and Frey). This being said later in life men affected with Klinefelter’s syndrome are having more issues which can be fatal.

The treatment of this disorder helps to limit the chances of several attributing factors involved with this disease. Many of these risks are associated with Klinefelters, some which are lethal, “Risks of Klinefelter’s syndrome are: osteoporosis [brittle-bones], diabetes, pulmonary disease [lung-disease], breast cancer, infertility, leukemia [blood cancer], Non-Hodgkin’s lymphoma [lethal blood cancer], thyroid disease, tooth decay, and varicose veins,” (Better Health Channel). Treatment if not done at an early age, through testosterone doses, can be done through hormone therapy along with reproductive technologies, impairment classes, and screenings.” These treatments especially the hormone therapy can reduce the risk of the effects of Klinefelter’s syndrome. The effects of these “treatments may vary among the general affected population though,” (Nippoldt), some never showing these risks and some who even with the treatment die from these risks.

Klinefelter’s syndrome can be a very serious disease if not treated properly and/or at a young age. Though many do not live long enough to deal with the repercussions of this disease, this is still a problem. Many males with this disease suffer depression and social impediments because of the social problems and mental retardation. Treatment may also include self-help classes to help others with this random genetic disorder. Because of the fact that these people do hold feminine characteristics they go through many things that impede their development and thus even further making this disorder worse than it is. Through scientific developments these males with XXY chromosome disorder may be shielded from the lethal effects.