Klinefelter syndrome is a common genetic chromosomal condition which occurs when a boy is born with an extra copy of the x chromosome. Dec 28, 2014 information on the topic of klinefelters syndrome which means a born male is born with the chromosome pattern of xxy an extra female chromosome my interest in this lies that i was born with this and so ive heavily educated myself on the topic. Early origins of the klinefelter family the surname klinefelter was first found in the rhineland, where the name came from humble beginnings but gained a significant reputation for its contribution to the emerging mediaeval. Master shi heng yi 5 hindrances to selfmastery shi heng yi tedxvitosha. Nearly 70 years after its description, klinefelter syndrome ks remains a largely undiagnosed condition. Common physical features may include tall stature, reduced muscle tone, small testes.
According to the national human genome research institute, klinefelter syndrome is found in about 1 out of every 500 to. Klinefelter syndrome is a chromosomal abnormality characterized in 80% of cases by a set of chromosomes 47 xxy and 20% from xxxy karyotype, xxyy or frameworks such as mosaicism 47xxy46xx, 47xxy46xy, etc despite chromosome damage, in a female genotype, the y chromosome would prevail, leading to the male phenotype. Klinefelter syndrome is known as the forgotten syndrome because of common occurrence but under diagnosed condition, despite being discovered 7 years ago. One in every 750 males is born with an extra x chromosome. Klinefelter syndrome genetic and rare diseases information. Klinefelters syndrome is a chromosomal abnormality resulting in hypogonadism. Syndrome definition, a group of symptoms that together are characteristic of a specific disorder, disease, or the like. Pennsylvania had the highest population of klinefelter families in 1840. Pdf criminality in men with klinefelters syndrome and. Klinefelter syndrome pictures, causes, symptoms, treatment. In 1840 there were 24 klinefelter families living in pennsylvania.
Its estimated 1 in 500 men have klinefelter syndrome, but most are unaware. It occurs if you are born with an extra x chromosome. Although someone with klinefelters syndrome will lead a typically normal life, other people such as their peers will need to understand the symptoms of this abnormality before they can pass judgement on any afflicted people. Consensus statement on diagnosis and clinical management of. Description klinefelter syndrome is a condition in which one or. The y12 might be the least expensive option actually rather than the full gammit of 37 or 67 markers. Klinefelter syndrome definition of klinefelter syndrome. Some men with klinefelter syndrome have no symptoms. Klinefelter syndrome, also referred to as xxy condition, is a genetic disease. In klinefelter syndrome, a problem very early in development results in an abnormal number of chromosomes. The relationship between clinical phenotype and genetic background has been partially disclosed. Feb 14, 2018 klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome. Klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome. Males with this condition typically have small testes that do not produce enough testosterone.
The klinefelter syndrome association of canada ksac is a voluntary, nonprofit, selfhelp organization dedicated to providing services that improve and enhance the quality of life for children and adolescents with klinefelter syndrome, a rare chromosomal disorder. Treatment includes educational, therapeutic, and medical therapy. Klinefelter syndrome pictures, images, causes, symptoms, treatment. Reports may be affected by other conditions andor medication side effects. It affects sexual development and may lead to learning disabilities. Recent advances in managing and understanding klinefelter. Recent years have seen the tide turning in the ways that boys with klinefelters syndrome ks have settled down at school, this is reflected in the statistics of the klinefelters syndrome association survey which pointed out that whilst virtually no adults had attended special schools as children, the figure had risen to around 1 in 3 by 1999. You just need to determine if there is a possibility of a. Klinefelter syndrome is a genetic condition affecting males, and it often isnt diagnosed until adulthood. It affects between 1 in 500 and 1 in 1,000 newborn males. Learn more about the causes, symptoms, and treatment of klinefelter syndrome.
Klinefelter syndrome is a genetic condition affecting males. However, studies believe that this may be an underestimate as many individuals with mild symptoms may not be diagnosed and the features of klinefelter syndrome can overlap with other genetic conditions. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra x chromosome in cells. Klinefelter syndrome is not one that causes major dysfunctions and is usually only discovered during genetic testing for infertility or during prenatal testing due to maternal age or prior genetic issues within the family. Around 1 in 500 to 1 in 1,000 male babies are born with klinefelter syndrome. The syndrome was first identified and described in 1942 by harry fitch klinefelter, jr. Because symptoms of klinefelter syndrome ks can sometimes be very mild, many people are never diagnosed or treated. A comprehensive clinic in colorado is dedicated solely to children with the syndrome. By improving our knowledge on the role of some genetic aspects as well as on. Dec 28, 2014 information on the topic of klinefelter s syndrome which means a born male is born with the chromosome pattern of xxy an extra female chromosome my interest in this lies that i was born with this and so ive heavily educated myself on the topic. Some of us identify ourselves with being men, women, trans or intersex, we no longer want to be placed into boxes so we are getting away from labels. Try our interactive tool for help finding information, services, experts, financial aid, and more.
About 60% of embryos with klinefelter syndrome do not survive the fetal period. Klinefelter syndrome is a chromosome condition that can affect a males physical appearance, fertility, and cognitive development. Symptoms include decreased testosterone levels, development of breasts, wider hips, and infertility. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Please use one of the following formats to cite this article in your essay, paper or report. Although the specific symptoms of this syndrome are unique to each man who has it, the most common side effect of this condition is a lower level of testosterone production. It causes changes to their cognitive and physical development.
Klinefelter syndrome klinefelter syndrome posted 21405 key points genetics klinefelter syndrome should be considered as a possible diagnosis among adult men with hypogonadism, infertility, andor low libido. Most commonly, affected individuals are taller than average are unable to father biological children infertile. Chromosomal disorder characterized by supernumerary x chromosomes in male subjects associated with infertility and hypogonadism. Intellectual impairment andor neuropsychiatric disorder are present in many cases. Klinefelter syndrome is a chromosomal condition in which males have an extra x chromosome affecting their sexual development. Established in 1987, the klinefelter syndrome association of canada is committed to promoting the early detection and treatment of klinefelter syndrome, providing support to affected individuals and family members, promoting professional and public awareness of the disorder, and functioning as a resource service on klinefelter syndrome. Obviously, family and friends will need to put up with this disorder. Although it does involve the genes, this condition is not hereditary. Sep 20, 20 boys and men with the chromosomal disorder klinefelter syndrome, or xxy male, have a new resource for treatment and medical management the johns hopkins klinefelter syndrome center is the only multidisciplinary program of its kind in the country serving adult males, says endocrinologist adrian dobs, the centers director. This emedtv web page discusses the genetic factors involved in klinefelter syndrome and explains why the condition does not run in families.
Klinefelter syndrome, also known as the xxy condition, is a term used to describe males who have an extra x chromosome in most of their cells about one of every 500 males has an extra x chromosome, but many dont have any symptoms. Although the specific symptoms of this syndrome are unique to each man who has it, the most common side effect of this condition is a lower level of. It results from an unequal sharing of sex chromosomes soon after fertilization. Most boys with klinefelter syndrome have normal intelligence. Review article klinefelter syndrome the commonest form of hypogonadism, but often overlooked or untreated eberhard nieschlag summary background. The klinefelter syndrome is a known genetic condition which affects menboys. While klinefelter syndrome is genetic, in that it involves one or more extra x chromosome gene, it is not usually hereditary in the conventional sense. It was shown that men who displayed the distinct characteristics specific to klienfelters syndrome had an extra x chromosome. Klinefelter syndrome nord national organization for rare. Variants of the disease with three, four, or more extra. Psychiatric aspects of klinefelters syndrome american. Fun facts klinefelter syndrome is one of the most common genetic disorder that occurs in males under a category of male common diseases. Klinefelter syndrome it is the state of male hypogonadism due to 2 or more x chromosome with 1 or more y chromosome.
The name klinefelter comes from the german province known as the rhineland. This was about 75% of all the recorded klinefelter s in the usa. The clinical phenotype of ks was first described in. When described more than 40 years ago, klinefelters syndrome small testes, sterility, increased excretion of folliclestimulating hormone, and usually gynecomastia was thought to be an endocrine disorder. Klinefelter syndrome ks is the result of 2 or more x chromosomes in a phenotypic male. It is congenital, which means it is present from birth.
Testosterone replacement therapy can improve the health of men with klinefelter syndrome. People with this condition are born with at least one extra x chromosome. Klinefelter syndrome is usually the result of a random event that occurs during the formation of reproductive cells eggs and sperm. Klinefelter syndrome nord national organization for. Klinefelter is a nickname surname, a style of name based on an ekename, or added name, that described a characteristic of its original bearer. Physician update new hope for those with klinefelter. So, you have the potential to learn further information regarding the extent of the klinefelter syndrome you have inherited by ordering both of these tests family finder and ydna. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to. Klinefelters 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. Klinefelter syndrome occurs in about 1 in 500 to 1 in 1,000 boys.
Klinefelter syndrome ks is characterized by an extreme heterogeneity in its clinical and genetic presentation. Apr 20, 2010 klinefelter syndrome is a chromosomal abnormality characterized in 80% of cases by a set of chromosomes 47 xxy and 20% from xxxy karyotype, xxyy or frameworks such as mosaicism 47xxy46xx, 47xxy46xy, etc despite chromosome damage, in a female genotype, the y chromosome would prevail, leading to the male phenotype. The johns hopkins klinefelter syndrome center is the only multidisciplinary program of its kind in the country serving adult males, says endocrinologist adrian dobs, the centers director. Klinefelter is a name for a small or short person deriving its origin from the german word klien, which means small. It can cause a variety of problems, including a small penis, small testes and infertility. That is, klinefelter syndrome is not inherited, nor does it run in families. Klinefelter syndrome is one of the most common chromosome conditions in newborns. Most individuals have two sex chromosomes in each cell that contain some of the instructions for growth and development of the body. The klinefelter family name was found in the usa, and canada between 1840 and 1920.
The most klinefelter families were found in the usa in 1880. Most often, boys and men with klinefelter syndrome have the usual x and y. Professor rob mclachlan discusses klinefelter syndrome, and how it can present differently in each individual but a common feature is that all. General information klinefelters syndrome association. Often, symptoms may be subtle and many people do not realize they are affected. Results of attempted tese in men with klinefelter syndrome range. Females will have two x chromosomes 46, xx and males will have one x and one y. Klinefelter syndrome ks is a genetic chromosomal condition that affects only men. Treatment options include testosterone, surgery, and counseling. The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the x chromosome. May 23, 2017 klinefelter syndrome is one of the most common chromosome conditions in newborns.
Klinefelter syndrome 47, xxy is a chromosomal variation in males in which one extra x chromosome is present, resulting in a xxy sex chromosome karyotype. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Men with klinefelter syndrome are also at a substantially higher risk for nonhodgkin lymphoma, and possibly lung cancer. It is a subject of interest because of its wide spectrum of clinical manifestations, which include certain physical features, cognitive delays, and azoospermia. Chromosomes are packages of genes found in every cell in the body. In 1942, klinefelter, refenstein and albright found nine men with small testes, aspermia, elevated urinary gonadotrophins and gynecomastics. To investigate the criminal pattern in men between 15 and 70 years of age diagnosed with 47,xxy klinefelters syndrome ks or 47,xyy compared to the general population. 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. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of. Klinefelter syndrome is one of the more recently discovered medical syndromes. Klinefelter syndrome showing most of the characteristics according to epidemiological reports, the condition affects about 1 out of 1,000 of born male in the united states. See more ideas about klinefelter syndrome, syndrome, chromosome. In premedieval times, the german people used only one name, but as the population increased, hereditary surnames became necessary for people to maintain unique identities.
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. Physician update new hope for those with klinefelter syndrome. Klinefelter syndrome is a chromosomal disorder that affects only males. Klinefelter syndrome association of canada nord national. Klinefelter syndrome is a genetic condition affecting male sexual development females are not affected. Klinefelter syndrome and other sex chromosomal aneuploidies. Typical symptoms of this condition include breast development, small testes, and sparse facial and body hair. Females have two x chromosomes 46,xx, and males have one x and one y chromosome 46,xy. This was about 75% of all the recorded klinefelters in the usa. Klinefelter syndrome can affect both physical and cognitive development. Klinefelter syndrome symptoms and causes mayo clinic. Klinefelter syndrome ks is a common male chromosomal disorder 47, xxy that has been a topic of intrigue and inquiry since the 1940s, when it was first described 1. Klinefelter syndrome definition, symptoms, treatment. The estimated prevalence is one in 500 to one in males but due to the widely variable and often aspecific features, only one in four cases are recognized.
The extra x chromosome can affect physical, developmental, behavioral, and cognitive functioning. Klinefelter syndrome sometimes called klinefelter s, ks or xxy is where boys and men are born with an extra x chromosome. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less. Klinefelter syndrome definition klinefelter syndrome is a chromosomal disorder that affects only males. 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. Although someone with klinefelter s syndrome will lead a typically normal life, other people such as their peers will need to understand the symptoms of this abnormality before they can pass judgement on any afflicted people. Prostate cancer, along with breast cancer was more prevalent. Affecting males, symptoms can include small genitals and infertility. Most commonly, a male with klinefelter syndrome will be born with 47 chromosomes in each cell, rather than the normal number of 46. Klinefelter syndrome definition of klinefelter syndrome by.
Klinefelter was an endocrinologist who believed these characteristics were caused by an endocrine disorder. Klinefelter syndrome ks is a common genetic condition, affecting one in 450 men. Klinefelter syndrome is the most common sex chromosome disorder in males. The medical community is getting away from putting labels on us as men with klinefelter syndrome. Klinefelter syndrome is the most common chromosome abnormality in humans. Download table results of attempted tese in men with klinefelter syndrome range from publication. Klinefelter syndrome sometimes called klinefelters, ks or xxy is where boys and men are born with an extra x chromosome. Sep 19, 2016 klinefelter syndrome ks is characterized by an extreme heterogeneity in its clinical and genetic presentation. Statistics show that about 250,000 are affected by the syndrome. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Some males with ks have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Klinefelter syndrome is a genetic condition that occurs in males of all racial and ethnic backgrounds. By the late 1950s, the cause for klinefelters syndrome was discovered.
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