Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. Summary. Chromosomes are packages of genes found in every cell in the body. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Those affected … There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Symptoms may include any of the following: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) … Treatment may include: Testosterone replacement: About half of people with … National Helpline 0300 111 47 48 WebAdmin@ksa-uk.net. Klinefelter syndrome appears to occur more frequently with both older maternal and paternal age (over the age of 35.) They are written by UK doctors and based on research evidence, UK and European Guidelines. REVIEW ARTICLE Klinefelter Syndrome The Commonest Form of Hypogonadism, but Often Overlooked or Untreated Eberhard Nieschlag SUMMARY Background: Klinefelter syndrome (KS) with the karyotype 47,XXY is one of the commonest types of congenital chro-mosomal disorder in males, with an incidence of 0.1% to 0.2% of newborn male infants. … These include personality changes, depression, and psychosis. This results in smaller-sized testicles, low testosterone levels, and possibly infertility. Many people with KS are not diagnosed until they are adults, and it is believed that up to two thirds may never be diagnosed at all. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with … Symptoms. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Klinefelter syndrome is the most common sex chromosome disorder, manifested as hypogonadism, gynecomastia, and impaired spermatogenesis. Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. Testosterone replacement is mainly for androgen deficiency but does not improve infertility 7. It causes hypogonadism and infertility. With an incidence of 0.1% to 0.2% of male neonates (i.e. The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. Recent Articles. It results from an unequal sharing of sex chromosomes soon after fertilization. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. It results in small testes, testosterone deficiency, infertility and often in swelling of glandular breast tissue (gynecomastia). When a diagnosis is made, treatment is based on the signs and symptoms present in each person, especially the problems related to hypogonadism, gynecomastia, and psychosocial problems. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. Signs and symptoms vary greatly. Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. Next Article Klinefelter's syndrome: a late diagnosis. Klinefelter syndrome is the most frequent sex chromosome abnormality and is seen in about 150 boys out of every 100,000 live-born boys. However, Klinefelter syndrome is often overlooked or untreated. Clin Genet. Klinefelter Syndrome. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. 16.7). Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. It is characterized by the presence of one or more extra X chromosomes. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter Syndrome affects 1 in 500 male conceptions and is therefore the most common sex chromosome abnormality. Signs and symptoms seen in Klinefelter syndrome. In this issue of the Journal, Zganjar et al. Some men see themselves as being without any signs related to Klinefelter syndrome, but a physician would be able to find discrete signs related to the syndrome. Klinefelter syndrome is largely undiagnosed in the general population. Klinefelter syndrome can cause problems with learning and sexual development in guys. It is characterized by the presence of one or more extra X chromosomes. increased incidence of male breast malignancy; increased incidence of germ cell … Klinefelter’s syndrome is the clinical result of an additional X chromosome in males (47,XXY), although other chromosome abnormalities (such as 46,XY/47,XXY mosaicism; 48,XXXY; 49,XXXXY) account for 10-20% of cases.1 2 Classic clinical findings include infertility, small testes, hypergonadotropic hypogonadism (elevated luteinising hormone and follicular stimulating hormone … A study on the KS prevalence in Japan found a lower prevalence at 60 per 100 000, 2 indicating the presence of racial differences. Following the 1st International Workshop on the Klinefelter Syndrome in 2010 (Juul et al., 2011), the 2nd IWKS took place in Münster, Germany from March 10 to 12, 2016 and was organized by the Centre of Reproductive Medicine and Andrology of the University of Münster. We offer support and information to all affected by, or having an interest in, Klinefelter’s Syndrome. 2002;61:49–53. Klinefelter's syndrome is the most common cause of testicular failure that results in impairments in both spermatogenesis and—to a lesser extent—testosterone production. Until now, however, … The presence of only long lower extremities distinguishes Klinefelter syndrome from the other forms of eunuchoidism that results in equally long upper and lower extremities. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Testosterone replacement therapy is a mainstay of treatment. Klinefelter syndrome happens when a male is born with an additional X chromosome. Professional Reference articles are designed for health professionals to use. Klinefelter syndrome is the most common sex chromosome disorder, manifested as hypogonadism, gynecomastia, and impaired spermatogenesis. These include personality changes, depression, … Article Translations: What Is Klinefelter Syndrome? Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. Early identification is helpful in treating and managing Klinefelter syndrome. Often, symptoms are subtle and subjects do not realize they are affected. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter’s Syndrome (KS) is a common congenital condition which is found in around 1 in 600 live male births and is caused by the presence of one or more additional sex chromosomes. Humans normally have two sex chromosomes in each cell—females have two X chromosomes (described as XX), and males have one X and one Y chromosome (described as XY). An interesting XXY story from Glass magazine; Research into men’s experience of pregnancy following fertility treatment; Guy’s Hospital First Klinefelter’s Syndrome (KS/XXY) Adolescent Clinic; Contact the KSA . It is sometimes just called XXY. Infertility is the most common symptom of Klinefelter syndrome. Between 1 in 500 and 1 in 1,000 boys are born with Klinefelter's syndrome (KS). Complications. The clinical phenotype of KS was first described in males with tall stature, small testes, gynecomastia, and azoospermia with the genetic etiology of supernumerary X chromosomes identified in 1959. Patients with Klinefelter syndrome are highly susceptible to psychiatric disturbances as compared to the general population. It's a genetic condition (meaning a person is born with it). The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males. Here, we report high levels of schizophrenia-spectrum pathology in 32 men with this syndrome in comparison with 26 healthy controls. Klinefelter syndrome 47,XXY was first described 70 years ago (1). This syndrome is the most common sexchromosome disorder affecting 1 in 500 men across all ethnic groups, but the diagnosis is often delayed because of substantial variation in clinical presentation. Chromosomes are genetic material and males typically have one X and one Y chromosome (XY) and females have two X chromosomes (XX). The clinical phenotype of KS was first described in males with tall stature, small testes, gynecomastia, and azoospermia with the genetic etiology of supernumerary X chromosomes identified in 1959. Klinefelter's syndrome is a genetic condition that only affects males. A mother who gives birth over the age of 40 is two to three times more likely to have a baby with Klinefelter syndrome than a mother who is age 30 at birth. Treatment and prognosis. Klinefelter syndrome occurs when a male receives an extra X sex chromosome. You may find the Klinefelter's Syndrome article more useful, or one of our other health articles. These are named either X or Y. Affected males have an extra X chromosome. 9. Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty. Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. This may have implications for treatment of Klinefelter's syndrome and suggests that the X chromosome may be involved in the … Patients with Klinefelter syndrome are highly susceptible to psychiatric disturbances as compared to the general population. The presence of an extra X chromosome in males with Klinefelter syndrome results in an XXY arrangement; this affects physical and cognitive … The classic form (nonmosaic type) of Klinefelter syndrome (KS) is observed in one per 660 births, with up to 3%‐4% occurring in infertile men and 10%‐12% occurring in nonobstructive azoospermia (NOA). It can affect physical and mental development. Klinefelter syndrome only affects males. 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