A shortage of testosterone can lead to delayed, incomplete or no puberty whatsoever. Nov 01, 2012 klinefelter syndromea clinical update j clin endocrinol metab, january 20, 981. About 47,xxy the association for x and y chromosome variations. During his years at the massachusetts medical hospital in 1941 and 1942, he first observed the signs of the syndrome along with his colleague, fuller albright. Importance of klinefelter syndrome in the pathogenesis of male infertility.
Individuals affected by klinefelter syndrome typically have small testes that do not produce as much testosterone as usual. Xxyy is no longer considered a variation of ks, although it has not yet been assigned an icd9 code. May 07, 2012 48,xxyy syndrome is a chromosomal condition, characterized by the presence of an extra x and y chromosome in males, that causes medical and behavioral problems. Oct 18, 2017 many but not all males with 47, xxy may develop signs and symptoms features of klinefelter syndrome ks during their teen and adult years.
The majority of klinefelters individuals have an extra female chromosome, resulting in an xxy pattern and a total of 47 chromosomes instead of 46. Turners syndrome free download as powerpoint presentation. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,xxyy and 48,xxxy. Klinefelters syndrome on the web most recent articles. Ld online works in association with learning disabilities association of. May 17, 2001 ld online is the leading website on learning disabilities, learning disorders and differences. The most frequent type of intersexuality, one per 500700 live male births. Scribd is the worlds largest social reading and publishing site. It gets tiring educating people sometimes, i focus mainly on the school and medical staff, but im learning to always have a brochure to hand out. Klinefelter syndrome ks is a common genetic condition that is currently underdiagnosed. Klinefelter syndrome ks is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46.
Almost 20 years later, studies showed that this was caused by the presence of two x chromosome and a y chromosome. For males in which klinefelter syndrome is suspected, aspecial blood test is recommended to confirm theklinefelter syndrome diagnosis. Klinefelter syndrome ks is a condition that occurs in men who have an extra x chromosome. Testosterone is the hormone that directs male sexual development pre birth and during the start of puberty.
The typical individual has a generalized inability to adapt, low social. One of the challenges of 47,xxy is that it is not characterized by any prominent physical features. Ks has a genetic background, with characteristics involving numerous specialties such as embryology, pediatrics. Scribddl uses selenium and headless chrome to take high resolutions screenshots of the.
In some cases, the features of the condition are so mild that. Klinefelter s syndrome on the web most recent articles. The syndrome can affect different stages of physical, language, and social development. Boys may be taller than other boys their age, with more fat around the belly.
Oct 24, 2006 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. The syndrome can affect different stages of physical, language and social development. Apart from 47,xxy there also 48,xxxy and 49,xxxxy types exist. People who have klinefelters syndrome are often called xxy males, or 47, xxy males. Most variants of klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Klinefelter syndrome also known as 47,xxy or xxy, is the set of symptoms that result from two or more x chromosomes in males. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Turner syndrome, klinefelter syndrome,down syndrome. It was first described in 1942, with a number of additional conditions, characteristics, and abnormalities described in later publications.
Ks is the name of a collection of features that include decreased testosterone production primary hypogonadism, small testes, enlarged breast tissue gynecomastia, tall stature, long legs, wide hips. The diagnosis of klinefelter syndrome will lead to the initiation of testosterone replacement therapy and may help facilitate access to appropriate educational resources. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with. A diagnosed condition that occurs in boys who have an extra x chromosome in most of their cells. Klinefelter syndrome, sex chromosome, hypogonadism, testosterone giris klinefelter sendromu olarak adlandirilan klinik tabloyu ilk olarak 1942 yilinda harry klinefelter ve arkadaslari kucuk testisli, jinekomastili, spermatogenezi olmayan 9 erkek hastada, idrarlarinda artmis fsh atilimini gostererek tanimlamislardir 1. Klinefelter syndrome is a form of primary testicular failure, with elevated gonadotropin levels due to lack of. Klinefelter syndrome as a window on the aetiology of language and communication impairments in children. Apr 14, 20 professor rob mclachlan discusses klinefelter syndrome, and how it can present differently in each individual but a common feature is that all men with klinefelter syndrome will have small testes. It is relatively common, occurring in about 1 of every 500 baby boys. Individuals with 48,xxyy are usually considerably tall with small testes that do not function normally leading to infertility. Other patterns of chromosomal aberration such as xxy, xxyy, and some mosaic patterns may result in the same syndrome. How to download for free on scribd the edukitor youtube. Join the millions of readers who turn to scribds digital library to access an unlimited number of audiobooks, books, magazine articles, sheet music, and more.
Syndrome definition in medicine and psychology, a syndrome is the association of several clinically recognizable features, signs observed by someone other than the patient, symptoms reported by the patient, phenomena or characteristics that often occur together, so that the presence of one or more. They enter puberty normally, but by midpuberty have low levels of testosterone causing small testicles and the inability to make sperm. Eften symptoms mey be subtle an mony fowk dae nae realize thay are affectit. Klinefelters syndrome is a trisomy of the sexchromosomes giving a xxy set. Sometimes symptoms are mair prominent an mey include weaker muscles, greater hicht, puir. Klinefelter syndrome is a chromosomal disorder that affects only males. Klinefelter s syndrome is a trisomy of the sexchromosomes giving a xxy set.
Many but not all males with 47, xxy may develop signs and symptoms features of klinefelter syndrome ks during their teen and adult years. Klinefelter syndrome, 47,xxy ks, occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. He studied at the university of virginia before moving on to johns hopkins university. Klinefelter syndrome simple english wikipedia, the free.
Klinefelter s syndrome is a chromosomal abnormality resulting in hypogonadism. How to download for free on scribd the edukitor please check out other videos on this channel. People typically have two sex chromosomes in each cell. Klinefelter syndrome ks with the karyotype 47,xxy is one of the commonest types of congenital chromosomal disorder in males, with an incidence of 0. Although men with this condition are at risk for other medical.
Ks has a genetic background, with characteristics involving numerous. Klinefelter syndrome absence or unresponsiveness of target organs e. Psychiatric aspects of klinefelters syndrome american. Harry klinefelter and his coworkers first described the combination of features that has come to be recognized as klinefelter syndrome. The disease, dubbed klinefelters syndrome, was discovered. In addition, boys with klinefelter syndrome may have learning disabilities and difficulty with speech and language development. 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. Parents and teachers of learning disabled children will find authoritative guidance on attention deficit disorder, add, adhd, dyslexia, dysgraphia, dyscalculia, dysnomia, reading difficulties, speech and related disorders. It is a condition in boys caused by the presence of an extra x chromosome. Klinefelter syndrome is a condition where one or more extra xchromosomes are present in a male. Klinefelter syndrome free download as powerpoint presentation. Im not going to stop talking about klinefelters syndrome. Researchers suspect that klinefelter syndrome is underdiagnosed because the condition may not be identified in people with mild signs and symptoms. Klinefelter syndromea clinical update j clin endocrinol metab, january 20, 981.
I know this is a year old, but dont stop talking about klinefelters, its not oversharing. Review article klinefelter syndrome the commonest form of hypogonadism, but often overlooked or untreated eberhard nieschlag summary background. By the late 1950s, researchers discovered that men with this group of. Typical symptoms of this condition include breast development, small testes, and sparse facial and body hair. Klinefelter syndrome klinefelter syndrome posted 21405 key points genetics klinefelter syndrome should be considered in boys with gynecomastia or hypogonadism. Over 3000 affected males are born yearly in the us. People with this condition are born with at least one extra x chromosome. This is called as variants of klinefelter syndrome. Klinefelter syndrome diseases and disorders clinical. Most commonly, affected individuals are taller than average are unable to father biological children infertile. Klinefelter syndrome is a genetic condition affecting male sexual development females are not affected. Genetics home klinefelter syndrome symptoms common symptoms of klinefelter syndrome include breast development, smaller testes, and sparse facial and body hair. This is the abstract from the original medical journal article published by harry klinefelter in 1942 that described the klinefelter syndrome not to be confused with 47,xxy. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development.
The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. It is not possible for klinefelters syndrome to be passed down because its not a trait or a gene, its just a disorder. The primary features are infertility and small poorly functioning testicles. Boys normally have one x and one y chromosome, but most boys with klinefelter syndrome have two x and one y chromosome. Klinefelter syndrome the diagnosis of klinefelter syndrome is based on the presence of at least one extra x chromosome, in the presence of a y chromosome. Turner syndrome, klinefelter syndrome, down syndrome. Diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. Birth after intracytoplasmic sperm injection of ejaculated spermatozoa from a man with mosaic klinefelter s syndrome.
Klinefelters syndrome is a chromosomal abnormality resulting in hypogonadism. Treatment options include testosterone, surgery, and counseling. Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Klinefelter syndrome is a chromosome disorder in males that results in hypogonadism small penis and small firm testicles. Xxy aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. The 48, xxyy male syndrome occurs 1 in 17,000 births and is also considered to be a variation of klinefelter s syndrome. Klinefelter syndrome, 47, xxy, or xxy syndrome is a genetic disorder where people have an extra number of x chromosomes. Ld online is the leading website on learning disabilities, learning disorders and differences. The 48, xxyy male syndrome occurs 1 in 17,000 births and is also considered to be a variation of klinefelters syndrome. Klinefelter syndrome and other sex chromosomal aneuploidies. Approximately 1 in 500 males is born with an extra x chromosome. Klinefelter syndrome is a condition related to the x chromosome and y chromosome the sex chromosomes.
Apr 29, 20 diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. Professor rob mclachlan discusses klinefelter syndrome, and how it can present differently in each individual but a common feature is that all men with klinefelter syndrome will have small testes. Download the free scribd app and start listening and reading today. Intellectual impairment andor neuropsychiatric disorder are present in many cases. Klinefelter syndromea clinical update the journal of. People with this condition are born with at least one extra x chromosome description.
The most common form of klinefelter syndrome is due to a 47,xxy karyotype and is found in about 80% of cases, but can also be due to variant karyotypes. This website was enabled by the generous support of the american association for klinefelter syndrome information and support, in memory of wolfran nolten, m. Klinefelter syndrome is the most common sex chromosomal disorder associated with male hypogonadism and infertility. About 47,xxy klinefelter syndrome 47,xxy is the most common of the x and y variations, occurring in approximately 1 out of every 600 male births.
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