Often there is an azoospermia present, rarely an oligospermia. He is a singer and actor of Australian origin, born in 1995. Additional chromosomal material can contribute to cardiac, neurological, orthopedic, and other anomalies. It can be difficult to diagnose since many sufferers have only a few typical symptoms and no specific biochemical or histologic changes. The primary features are infertility and small poorly functioning testicles. This autosomal dominant condition occurs once in every 10,000 to 20,000 people. Based on pictures and contemporary accounts, he may had Marfan syndrome. He was also selected in 1997 by Vanity Fair as one of the best character actors in the United States. Fertilizing a double X egg with a normal sperm also produces an XXY offspring (Klinefelter).[33]. [1] Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex. Jacobs described her discovery of this first reported human or mammalian chromosome aneuploidy in her 1981 William Allan Memorial Award address. [44], The use of behavioral therapy can mitigate any language disorders, difficulties at school, and socialization. [30], Maternal age is the only known risk factor. 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. This is a genetic health disorder wherein there is an extra X chromosome in the standard human male karyotype. All content, including text, images, graphics, and information, contained on or available through this website is for general information purposes only. [7] Physical therapy, speech and language therapy, counselling, and adjustments of teaching methods may be useful. As teens, XXY males may develop breast tissue[17] and also have weaker bones, and a lower energy level than other males. In mammals with more than one X chromosome, the genes on all but one X chromosome are not expressed; this is known as X inactivation. [9], The genetic variation is irreversible, thus there is no causal therapy. [1], Klinefelter syndrome occurs randomly. He was born to Deborah Sue ‘Debbie’ and Michael Fred Phelps in Baltimore, Maryland. As they grow older, they tend to become taller than average. [16][26] In contrast to these potentially increased risks, rare X-linked recessive conditions are thought to occur less frequently in XXY males than in normal XY males, since these conditions are transmitted by genes on the X chromosome, and people with two X chromosomes are typically only carriers rather than affected by these X-linked recessive conditions. Physical characteristics of a Klinefelter syndrome can be tall stature, low body hair and occasionally an enlargement of the breast. [36] These variations are extremely rare. [1] Often it is only at puberty that these symptoms are noticed. The incidence of 49,XXXXY is one in 85,000 to 100,000 male births. She is a South African middle-distance runner and 2016 Olympic gold medalist. [40] To investigate the presence of a possible mosaicism, analysis of the karyotype using cells from the oral mucosa is performed. [6] Testosterone replacement may be used in those who have significantly lower levels. [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]. [6] Enlarged breasts may be removed by surgery. [20] It has been estimated that 50% of males with Klinefelter syndrome can produce sperm. [11] An older mother may have a slightly increased risk of a child with KS. It was rumored that Michael Phelps, however, he tested negative for it. Klinefelter syndrome (47, XXY) is a condition that occurs in men who have an extra X chromosome, resulting in an XXY sex chromosome karyotype. He is the most celebrated athlete and the most decorated Olympian ever in the history of sports. Tutankhamen was an Egyptian pharaoh of the 18th dynasty who ruled between 1332 BC and 1323 BC. The syndrome is also the main cause of male hypogonadism. [3] The primary features are infertility and small poorly functioning testicles. He was an American blues guitarist, composer, and singer whose masterful, rhythmic slide guitar and eerie falsetto voice influenced many rock and blues musicians. [55] In 1956 it was discovered that Klinefelter syndrome resulted from an extra chromosome. The Klinefelter-Reifenstein-Albright syndrome. [12] People with the condition have a nearly normal life expectancy. [4][10] The extra X chromosome comes from the father and mother nearly equally. Posted on July 20, 2020  Updated: August 6, 2020 By: Author Health Guide's Editorial. [24][25], XXY males are more likely than other men to have certain health problems, such as autoimmune disorders, breast cancer, venous thromboembolic disease, and osteoporosis. He was born on September 27, 1987, in Ohio, and is best known as the former lead vocalist of the bands ”Attack Attack!” and ”Of Mice & Men.”. Note – because of the high degree of variability of the syndrome, many of these clinical characteristics can be present at birth or they can manifest later in childhood. In the video below, Matt who has XXY Klinefelter Syndrome, talks about what he goes through on a daily basis. ", Eunice Kennedy Shriver National Institute of Child Health and Human Development, "How many people are affected by or at risk for Klinefelter syndrome (KS)? [3][9] Often, symptoms may be subtle and many people do not realize they are affected. For nearly 15 years, Bradford Cox has been the frontman of Deerhunter, a band from Atlanta. Often, symptoms are subtle and subjects do not realize they are affected. Vincent was an actor that had made over 120 television and film appearances. Phelps won 6 gold medals at the 2004 Olympics, 8 gold medals at the 2008 Olympics, and 4 gold medals at the 2012 Olympics. There is usually a small testicle volume of 1–5 ml per testicle (standard values: 12–30 ml). Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. A spermiogram can also be part of the further investigation. [13] In 1956, the extra X chromosome was identified as the cause. In 2005, Austin formed Call It Even with his high school friends. ", "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? [41] During puberty and adulthood, low testosterone levels with increased levels of the pituitary hormones FSH and LH in the blood can indicate the presence of Klinefelter syndrome. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. People who have KS have an increased risk for autoimmune disorders, like – rheumatoid arthritis, lupus, and Sjogren’s syndrome. The signs and symptoms of KS in young boys and teenagers may include: Note – since KS can be hard to notice, many parents don’t know their child has the syndrome until he shows delays in puberty. He was a composer and the last great figure of the Russian Romanticism tradition. Often symptoms are milder in mosaic cases, with regular male secondary sex characteristics and testicular volume even falling within typical adult ranges. [5], While no cure is known, a number of treatments may help. It can affect physical and mental development. 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. [38], Analogous XXY syndromes are known to occur in cats—specifically, the presence of calico or tortoiseshell markings in male cats is an indicator of the relevant abnormal karyotype. Actually, this is always present in males and most doctors called this condition as XXY or 47 XXY. 11 Celebrities With Sickle Cell Anemia or Huntington's Disease, 7 Famous People With Syphilis, Gonorrhea, or Other STDs, https://www.nichd.nih.gov/health/topics/klinefelter/clinicaltrials/default. [21], The term hypogonadism in XXY symptoms is often misinterpreted to mean "small testicles" when it means decreased testicular hormone/endocrine function. However, controversy surrounds Semenya due to her somewhat masculine appearance. This is the reasons why they called as 47 XXY or XXY males. He was a vocalist for Shleeshiyat Gesher Hayarkon (Yarkon Bridge Trio), Batzal Yarok (Green Onion), and Hahalonot Hagvohim (The High Windows). [18][54] The account given by Klinefelter came to be known as Klinefelter syndrome as his name appeared first on the published paper, and seminiferous tubule dysgenesis was no longer used. Thus far, only about 10 cases of 47,XXY/46,XX have been described in literature. Sivan is also quite popular on social media, including Instagram (where he has more than 7 million followers) and YouTube (where his audience includes over 6.2 million people). [29] XXY males may sit up, crawl, and walk later than other infants; they may also struggle in school, both academically and with sports. [1] Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex. Also, the syndrome is linked with an increased risk for breast cancer, varicose veins, lung disease, extragonadal germ cell tumor, and osteoporosis. This condition comes with a set of symptoms that can be usually got from additive X genetic materials.

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