The klinefelter syndrome: current management and research challenges—from the scientific journal, andrology, this article summarizes the concluding round table discussion of the 2nd international workshop on the klinefelter syndrome in munster, germany, march, 2016. Klinefelter syndrome is one example of a sex development genetic disorder due to the presence of a 47,xxy genotype, which means that there is an extra x chromosome in each cell of the body it is estimated to occur in 150 per 100,000 male newborns each year and is usually characterized by tallness, underdeveloped testes, and cognitive. What is klinefelter syndrome usually, a person has 46 chromosomes in each cell, divided into 23 pairs, which includes two sex chromosomes half of the. International journal of endocrinology is a peer-reviewed, open access journal that provides a forum for scientists and clinicians working in basic and translational research the journal publishes original research articles, review articles, and clinical studies that provide insights into the endocrine system and its associated diseases at a.
Klinefelter syndrome is an underdiagnosed chromosomal disorder that has significant implications for health and for medical management past medical history was. They are written by uk doctors and based on research evidence, uk and european guidelines klinefelter's syndrome often goes undiagnosed in affected males. However, during the last 40 years of research only one single gene, shox, has definitively been linked to short stature in turner syndrome, and slightly greater height in klinefelter syndrome, 47.
The history of klinefelter syndrome began in 1942, when the first report on this condition was published research on klinefelter syndrome history of klinefelter. Research into the history of klinefelters syndrome samples of research into the history of klinefelters syndrome is quite a rare and popular topic for writing an essay, klinefelters syndrome - research paper by kagestand open document. What percentage of persons with xxy syndrome self-identify as female not take into account persons with xxy karotypes who are female or intersex in a small (but.
The overlying cause of klinefelter's syndrome (ks) is the presence of one or more x chromosomes, or a mosaic of xy/xxy cells the presence of this extra chromosome is due to nondisjunction during the formation of the egg or sperm cell. Most males with klinefelter syndrome are not diagnosed until they are well into adulthood, when diagnosis can come as a major shock an earlier diagnosis provides opportunities for the child and his family to access treatments and interventions that can help overcome any difficulties associated with the condition. Klinefelter syndrome is a condition related to the x chromosome and y chromosome (the sex chromosomes) people typically have two sex chromosomes in each cell. The free genetics research paper (klinefelter's syndrome essay) presented on this page should not be viewed as a sample of our on-line writing service if you need fresh and competent research / writing on genetics, use the professional writing service offered by our company. Klinefelter's syndrome is a genetic condition that only affects males affected males have an extra x chromosome males with klinefelter's syndrome have small testicles (testes) which do not produce enough of the male hormone testosterone before birth and during puberty this lack of testosterone.
Klinefelter syndrome is a group of conditions affecting the health of males who are born with at least one extra x chromosome chromosomes, found in all body cells, contain genes chromosomes, found in all body cells, contain genes. Klinefelter syndrome definition klinefelter syndrome  is a chromosomal disorder that affects only males people with this condition are born with at least one extra x chromosome [2. Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis men who have klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and sjogren's syndrome. View a collection of articles and research papers on numerous topics relating to 47,xxy (klinefelter syndrome, or xxy syndrome) research into the range of.
Klinefelter syndrome such as breaking bigger tasks into small steps what research is currently underway for klinefelter syndrome. This portion of the ks&a website contains basic information about klinefelter syndrome as well as links to articles, research reports, and other materials related to the condition national human genome research institute (nhgri. Case 28 klinefelter syndrome describe the benefits of an early diagnosis of this syndrome family history issues klinefelter syndrome (47,xxy) is a sporadically.
Klinefelter syndrome history (xxy condition) klinefelter syndrome's symptoms were discovered in the 1940's, but the causes were discovered in the 1950's dr harry klinefelter was the one to unravel this genetic disorder it was discovered when klinefelter reported a group of nine men to have. This is klinefelter syndrome it's also called klinefelter's or xxy it's also called klinefelter's or xxy often, men don't even know they have klinefelter until they run into problems. History hypogonadism, gynecomastia, and infertility are common symptoms that lead to the diagnostic evaluation of males for klinefelter syndrome. Klinefelter syndrome carla fedor, rn not done unless there is a family history of problems or if the pregnant woman is older than 35.