Often, symptoms are subtle and subjects do not realize they are affected. 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. Symptoms may include any of the following: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) … 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. Patients with Klinefelter syndrome are highly susceptible to psychiatric disturbances as compared to the general population. 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. Professional Reference articles are designed for health professionals to use. Recent Articles. It is characterized by the presence of one or more extra X chromosomes. Signs and symptoms vary greatly. 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. report the findings of a survey of the current practices of fertility care in adolescent males with Klinefelter syndrome (KS) among members of the Society for the Study of Male Reproduction, the Pediatric Endocrine Society, and the Endocrine Society (overall response rates of 4.7%, 5%, and 1%, respectively). XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. However, Klinefelter syndrome is often overlooked or untreated. Here, we report high levels of schizophrenia-spectrum pathology in 32 men with this syndrome in comparison with 26 healthy controls. In this issue of the Journal, Zganjar et al. Klinefelter syndrome only affects males. This results in smaller-sized testicles, low testosterone levels, and possibly infertility. It is characterized by the presence of one or more extra X chromosomes. With an incidence of 0.1% to 0.2% of male neonates (i.e. Klinefelter syndrome is the most frequent sex chromosome abnormality and is seen in about 150 boys out of every 100,000 live-born boys. Clin Genet. Symptoms. The primary features are infertility and small poorly functioning testicles. Article Translations: What Is Klinefelter Syndrome? You may find the Klinefelter's Syndrome article more useful, or one of our other health articles. Klinefelter syndrome happens when a male is born with an additional X chromosome. 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). 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. 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 . Between 1 in 500 and 1 in 1,000 boys are born with Klinefelter's syndrome (KS). 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. … Klinefelter Syndrome affects 1 in 500 male conceptions and is therefore the most common sex chromosome abnormality. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome can cause problems with learning and sexual development in guys. Patients with Klinefelter syndrome are highly susceptible to psychiatric disturbances as compared to the general population. These include personality changes, depression, and psychosis. Treatment and prognosis. Early identification is helpful in treating and managing Klinefelter syndrome. Signs and symptoms seen in Klinefelter syndrome. Next Article Klinefelter's syndrome: a late diagnosis. 2002;61:49–53. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is largely undiagnosed in the general population. Summary. Until now, however, … 16.7). 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. It is sometimes just called XXY. Klinefelter syndrome appears to occur more frequently with both older maternal and paternal age (over the age of 35.) Klinefelter syndrome 47,XXY was first described 70 years ago (1). Klinefelter Syndrome. Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. Complications. Klinefelter syndrome is the most common sex chromosome disorder, manifested as hypogonadism, gynecomastia, and impaired spermatogenesis. It results from an unequal sharing of sex chromosomes soon after fertilization. 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. 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. Testosterone replacement therapy is a mainstay of treatment. 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. These include personality changes, depression, … Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. National Helpline 0300 111 47 48 WebAdmin@ksa-uk.net. 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. Affected males have an extra X chromosome. increased incidence of male breast malignancy; increased incidence of germ cell … Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty. Klinefelter syndrome is the most common sex chromosome disorder, manifested as hypogonadism, gynecomastia, and impaired spermatogenesis. Treatment may include: Testosterone replacement: About half of people with … Klinefelter's syndrome, characterised by a 47, XXY chromosomal pattern, has largely been associated with physical abnormalities. Klinefelter's syndrome is a genetic condition that only affects males. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. It's a genetic condition (meaning a person is born with it). Chromosomes are packages of genes found in every cell in the body. The presence of an extra X chromosome in males with Klinefelter syndrome results in an XXY arrangement; this affects physical and cognitive … Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. 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. 9. They are written by UK doctors and based on research evidence, UK and European Guidelines. 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. Chromosomes are genetic material and males typically have one X and one Y chromosome (XY) and females have two X chromosomes (XX). Infertility is the most common symptom of Klinefelter syndrome. Testosterone replacement is mainly for androgen deficiency but does not improve infertility 7. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with … A study on the KS prevalence in Japan found a lower prevalence at 60 per 100 000, 2 indicating the presence of racial differences. 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. These are named either X or Y. 54 In early life, Klinefelter may be diagnosed in boys with behavioral disorders, abnormally small testes, and long legs (Fig. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. 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). Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Those affected … Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Klinefelter syndrome occurs when a male receives an extra X sex chromosome. It can affect physical and mental development. We offer support and information to all affected by, or having an interest in, Klinefelter’s Syndrome. Early recognition and hormonal treatment can improve quality of life and prevent serious complications. This may have implications for treatment of Klinefelter's syndrome and suggests that the X chromosome may be involved in the … 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 … Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males. It results in small testes, testosterone deficiency, infertility and often in swelling of glandular breast tissue (gynecomastia). It causes hypogonadism and infertility. 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