analysis of klinefelters syndrome

analysis of klinefelters syndrome Many chromosomal abnormalities occur early in development and involve the sex chromosomes. Klinefelter’s Syndrome falls directly into this category. Klinefelter’s Syndrome is a genetic condition affecting the male population. The following information observes who discovered Klinefelter’s Syndrome and when it was first diagnosed. The etiology or genetic and environmental factors of the condition are discussed as well as complete description of the disability and the clear diagnostic criteria. The affects of Klinefelter’s Syndrome are more recognized in adulthood, when it is typically diagnosed. Many Klinefelter’s patients live out their entire lives without ever knowing they have the condition. Upon conclusion, there should be an adequate amount of information that will give you, the reader, valuable knowledge into the diagnosis and treatment of Klinefelter’s Syndrome. History Klinefelter’s Syndrome was first diagnosed in 1942 at the Massachusetts General Hospital in Boston Massachusetts (Schoenstadt, 2006). Dr. Harry Klinefelter was completing his fellowship at the Massachusetts General Hospital when he was assigned to work with Dr. Fuller Albright, also known as the father of endocrinology (Bock, 1993; â€Å"Klinefelter Syndrome,† 2006). Dr. Klinefelter came to examine nine adult men that had a common set of symptoms during the course of his fellowship (â€Å"Klinefelter Syndrome,† 2006). Dr. Klinefelter organized a case study that involved these nine men and their similarities and was encouraged by Dr. Albright to lead the study (â€Å"Klinefelter Synrome,† 2006). The Journal of Clinical Endocrinology was published in November of 1942 with the completed case study of these nine men’s similar qualities, which Dr. Klinefelter identified as Klinefelter’s Syndrome (â€Å"Klinefelter Syndrome,† 2006). The report written by Dr. Klinefelter on these men described them as hav ing testicular dysgenesis, elevated urinary gonadotropins, eunuchoidism, azoospermia, and gynecomastia, all of which have an effect on the underdeveloped size of the testes, the lack of the amount of testosterone produced by the testes, and infertility (Schoenstadt, 2006; Visootsak Schoenstadt, 2006). With the advanced experimental methodology available, Dr. Joe Hin Tjio and Dr. Albert Lavan found that humans had 23 pairs of chromosomes, confirming 46 chromosomes, which prior to this time there was thought to be 48 chromosomes (Bock, 1993; â€Å"Klinefelter Syndrome,† 2006). This clarification by Dr. Tjio and Dr. Lavan is the basic foundation for modern cytogenetics, the study of chromosomes and diseases originating from