Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood.Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. In adults, possible characteristics vary widely and include little to no sign of affectedness, a lanky, youthful build and facial appearance, or a rounded body type with some degree of gynecomastia (increased breast tissue). [43] Testosterone preparations are available in the form of syringes, patches or gel. Fertilizing a double X egg with a normal sperm also produces an XXY offspring (Klinefelter).[33]. [6] Testosterone replacement may be used in those who have significantly lower levels. He died at the age of 74 at Ichilov Hospital in Tel Aviv, a few hours after he suffered a fatal hemorrhage. ", "Klinefelter syndrome and other sex chromosomal aneuploidies", "Breast cancer risk among patients with Klinefelter syndrome", "Klinefelter Syndrome (KS): Condition Information", "Understanding Klinefelter Syndrome: A Guide for XXY Males and their Families", "Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study", "Novel genetic aspects of Klinefelter's syndrome", "Klinefelter Syndrome – Inheritance Pattern", "Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients", "Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated", 10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O, "Clinical review: Klinefelter syndrome—a clinical update", "Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis", "Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Two of the most famous people that suffered from klinefelter syndrome were George Washington artist Lili Elbe. Filed Under: Featured, Medical Articles and Infographics, © 2020 HealthResearchFunding.org - Privacy Policy, 14 Hysterectomy for Fibroids Pros and Cons, 12 Pros and Cons of the Da Vinci Robotic Surgery, 14 Pros and Cons of the Cataract Surgery Multifocal Lens, 11 Pros and Cons of Monovision Cataract Surgery. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex. He was a renowned Italian violinist and composer of the 19th century who is best remembered for his ”24 Caprices for Solo Violin Op 1,” that he wrote between 1802 and 1817. Austin is undergoing a long procedure to battle the effects of Marfan syndrome. [22], The testicles of affected males are usually less than 2 cm in length (and always shorter than 3.5 cm[23]), 1 cm in width, and 4 ml in volume. Marfan syndrome is an inherited disease that affects the body’s connective tissue, which provides the support, strength, and elasticity to blood vessels, cartilage, heart valves, tendons, and other important parts of the physical body. This is the reasons why they called as 47 XXY or XXY males. Some of the celebrities include - Michael Phelps and Arik Einstein. The relevant nondisjunction in meiosis I occurs when homologous chromosomes, in this case the X and Y or two X sex chromosomes, fail to separate, producing a sperm with an X and a Y chromosome or an egg with two X chromosomes. Nondisjunction occurs when sister chromatids on the sex chromosome, in this case an X and an X, fail to separate. He is an American basketball player who played two years of college basketball for Baylor University. [16] See also Triple X syndrome. Hello! He was an American blues guitarist, composer, and singer whose masterful, rhythmic slide guitar and eerie falsetto voice influenced many rock and blues musicians. Consult a medical practitioner for health problems. [16], During puberty, the physical traits of the syndrome become more evident; because these boys do not produce as much testosterone as other boys, they have a less muscular body, less facial and body hair, and broader hips. [56] This karyotype was found in a 24-year-old man who had signs of KS. [47], The lifespan of individuals with Klinefelter syndrome appears to be reduced by approximately 2.1 years compared to the general male population. Also, at the 12th IAAF World Athletic Championships in Berlin, Caster won the 800m race in a best personal time of 1.55.45 seconds. ", "Increased mortality in Klinefelter syndrome", "Mortality in patients with Klinefelter syndrome in Britain: a cohort study". ", "Is there a cure for Klinefelter syndrome (KS)? [42], The symptoms of KS are often variable; therefore, a karyotype analysis should be ordered when small testes, infertility, gynecomastia, long arms/legs, developmental delay, speech/language deficits, learning disabilities/academic issues, and/or behavioral issues are present in an individual. As teens, XXY males may develop breast tissue[17] and also have weaker bones, and a lower energy level than other males. [34] However, in XXY males, a few genes located in the pseudoautosomal regions of their X chromosomes have corresponding genes on their Y chromosome and are capable of being expressed.[35]. A spermiogram can also be part of the further investigation. [citation needed], Some degree of language learning or reading impairment may be present,[27] and neuropsychological testing often reveals deficits in executive functions, although these deficits can often be overcome through early intervention. [53], The syndrome was named after American endocrinologist Harry Klinefelter, who in 1942 worked with Fuller Albright and E. C. Reifenstein at Massachusetts General Hospital in Boston, Massachusetts, and first described it in the same year. tall stature (short torso, long legs, and broader hips); backward flow of blood through the aortic and mitral valves; tear (dissection) and widening (aneurysm) of the main artery; dislocation of the lenses of the eyes (ectopia lentis); protrusion of the chest wall (pectus deformity); an abnormal side-to-side curvature of the spine (scoliosis); overgrowth of the long bones of the legs and arms. [3][9] Often, symptoms may be subtle and many people do not realize they are affected. [11] An older mother may have a slightly increased risk of a child with KS. She is a South African middle-distance runner and 2016 Olympic gold medalist. ", "What are the treatments for symptoms in Klinefelter syndrome (KS)? Thus far, only about 10 cases of 47,XXY/46,XX have been described in literature. Tutankhamen was an Egyptian pharaoh of the 18th dynasty who ruled between 1332 BC and 1323 BC. As they grow older, they tend to become taller than average. Two of the most famous people that suffered from klinefelter syndrome were George Washington artist Lili Elbe. The incidence of 49,XXXXY is one in 85,000 to 100,000 male births. In addition, he worked at the national conference helping teens with MS, whom he called his “genetic brothers and sisters.”. They may have less muscle control and coordination than other boys of their age. [6] XXY males appear to have a higher risk of breast cancer than typical, but still lower than that of females. [36] These variations are extremely rare. Arik had Marfan Syndrome. 48,XXYY or 48,XXXY occurs in one in 18,000–50,000 male births. [31][50][51][52] However, it is estimated that only 25% of the individuals with Klinefelter syndrome are diagnosed throughout their lives.

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