The american association for klinefelter syndrome aaksis. It is a condition in boys caused by the presence of an extra x chromosome. It occurs if you are born with an extra x chromosome. It usually is the result of nondisjunction during meiosis and is either of maternal 55% or paternal 45% origin.
Xxy klinefelter syndrome, xyy, xxyy include symptoms seen in autism spectrum disorder asd, such as language impairments and social difficulties. Learn more about klinefelter syndrome, including how it affects mens hormone health and what treatment options are available. Klinefelter syndrome for parents nemours kidshealth. Pediatric endocrinology fact sheet klinefelter syndrome. Autism resources klinefelter syndrome x and y variations. Klinefelter syndrome is a group of conditions affecting the health of males who are born with at least one extra x chromosome. Living with klinefelter syndrome 47,xxy trisomy x genetic org. Klinefelter syndrome occurs when a boy is born with one or more extra x chromosomes. For example, klinefelter syndrome is a common genetic cause of male infertility, but the risk of a transmitting man with klinefelter syndrome having a son with a karyotype associated.
Xxy definition klinefelter syndrome is a chromosomal disorder that affects only males. There are approximately 250,000 men with ks in the united states, and the prevalence of ks in male reproductive practices is 3 to 4%. Although klinefelter syndrome 47,xxy has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. November 30, 2014 by emily casanova bookmark the permalink. To assess the risks of schizophrenia, bipolar disorder, autism spectrum disorder and adhd in klinefelter patients, we estimated odds ratios and 95% confidence intervals using conditional logistic regressions.
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. The american association for klinefelter syndrome information and support aaksis is a national volunteer association with the mission of education, support, research, and understanding of 47 xxy and its variants, collectively known as klinefelter syndrome. People with this condition are born with at least one extra x chromosome. Outward signs of ks can be subtle, so symptoms often are not recognized, and may not be treated in a timely manner. Although klinefelter syndrome 47,xxy has been associated with psychosocial. Neural systems for social cognition in klinefelter syndrome 47,xxy. Some males with ks have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Maternal genetic analysis demonstrated the same 3p21. Klinefelter syndrome an overview sciencedirect topics. Klinefelter syndrome is not directly inherited the additional x chromosome occurs as a result of either the mothers egg or the fathers sperm having the extra x chromosome an equal chance of this happening in either, so after conception the chromosome pattern is xxy rather than xy. Men who have an extra x chromosome have an elevated risk of developing autism, schizophrenia or bipolar disorder, according to a study published in the january issue of the journal of psychiatric research 1.
The parents of children with klinefelter syndrome can compensate for their childs language disability by providing special help in language development, beginning at an early age. Controls had to be alive and without a diagnosis of klinefelter syndrome at the time of the first diagnosis of the matched case. Xxy is one of the most common chromosomal abnormalities. But the condition can bring challenges later in life. In 1959, these men with klinefelter syndrome were discovered to have an extra x chromosome genotype xxy instead of the usual male sex complement genotype xy.
Autism and klinefelter s syndrome treato found 37 discussions about klinefelter s syndrome and autism on the web. The primary features are infertility and small poorly functioning testicles. 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 a chromosomal condition in boys and men that can affect physical and intellectual development. Testosterone and muscle growth mean lean muscle mass klinefelter syndrome is a common genetic abnormality that presents in males who have additional x chromosomes in many or all body cells. Boys normally have one x and one y chromosome, but most boys with klinefelter syndrome have two x and one y chromosome. Social attention, affective arousal and empathy in men with. Klinefelter syndrome and risk of psychosis, autism and adhd article in journal of psychiatric research 481 october 20 with 972 reads how we measure reads. List of klinefelter syndrome medications 1 compared. Autism spectrum disorder, klinefelter syndrome, and chromosome 3p21.
Dec 18, 2007 a genetic evaluation demonstrated klinefelter syndrome 47, xxy karyotype with concurrent duplication of 3p21. Klinefelter syndrome, also known as xxy syndrome, is a condition in boys and men thats caused by an extra x chromosome. Mar 15, 2018 this feature is not available right now. Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. We compared a national sample of 860 klinefelter patients in sweden with 86 000 matched population controls. About 1 in 670 men have klinefelter syndrome, which is caused by having two x chromosomes and one y. For example, guys with klinefelter syndrome may be more likely to get some types of cancer and other diseases, like osteoporosis, a condition where the bones become weaker later in life.
Often, symptoms may be subtle and many people do not realize they are affected. It is relatively common, occurring in about 1 of every 500 baby. Definition of klinefelter syndrome nci dictionary of cancer. Case report case study of a patient presenting both type.
The appearance of signs of klinefelter syndrome in childhood can vary greatly and range from mild to those that are more obvious. Most teens with klinefelter syndrome arent likely to have major health problems. Klinefelter syndrome, 4647, xxy or xxy syndrome is a disorder where the human males bear an extra x chromosome. By continuing to use our website, you are agreeing to our use of cookies. Autism spectrum disorders are heterogeneous in nature with idiopathic and genetic origins. Many boys with klinefelter syndrome also known as xxy syndrome have no signs or symptoms, and some dont even know they have it until later in life. Klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome.
Ks describes a set of physical, language, and social development symptoms in males who have an extra x chromosome. The mosaic forms of klinefelter syndrome are due to mitotic nondisjunction after fertilization of the zygote. Klinefelter syndrome pictures, symptoms, causes, treatment. Klinefelter syndrome, 47, xxy, or xxy syndrome is a genetic disorder where people have an extra number of x chromosomes. In about 1025% of cases, it is associated with known medical conditions. In klinefelter syndrome, a problem very early in development results in an abnormal number of chromosomes. The person is usually male because of the y chromosome, but has lower levels of testosterone and may have some female. Cutoff scores for asperger syndrome and high functioning autism as provided by. Treatment options include testosterone, surgery, and counseling. Klinefelter syndrome simple english wikipedia, the free. T1 autism spectrum disorder and klinefelter syndrome. Keywords klinefelter syndrome autism traits x chromosome social behavior xxy klinefelter syndrome affects approximately 1 in 700 men and is the most commom sex chromosomal disorder. People who have klinefelter s syndrome are often called xxy males, or 47, xxy males. Klinefelter syndrome symptoms, diagnosis, treatments and.
As young men, their unusual height and lack of secondary sexual characteristics may draw medical attention, but physicians most often diagnose klinefelter syndrome. In general females are characterized by the presence of two x chromosomes and males bear on x and one y chromosome but in the individuals. We present a cohort of 40 affected males, focusing on musculoskeletal problems. Klinefelter syndrome ks is the most common sex chromosomal disorder with an estimated prevalence of 1 in 500 newborn boys lanfranco et al. Females have two x chromosomes 46,xx, and males have one x and one y chromosome 46,xy. In the general population, it has good discriminative validity for high functioning autismasperger syndrome using a cutoff. Review article klinefelter syndrome the commonest form of hypogonadism, but often overlooked or untreated eberhard nieschlag summary background. Having extra x chromosomes can cause a male to have some physical traits unusual for males. These forms can arise from a 46,xy zygote or a 47,xxy zygote. What are common symptoms of klinefelter syndrome ks. Our journey with klinefelter syndrome began in the spring of 1987. The american association for klinefelter syndrome information and support.
If you should come across other autism and resources and you would like me to add them, please message me through this website and i will be glad to add the sites. Typical symptoms of this condition include breast development, small testes, and sparse facial and body hair. Social behavior and autism traits in a sex chromosomal disorder. Klinefelter syndrome is one of the most common chromosomal disorders, affecting 1500 to 11,000 newborn males. Drugs used to treat klinefelter syndrome the following list of medications are in some way related to, or used in the treatment of this condition. Klinefelter syndrome and risk of psychosis, autism and adhd. We present a 7yearold boy with a long history of multiple behavioral concerns, poor school performance. These are a collection of websites links for autism. Schizophrenia, bipolar disorder, autism spectrum disorders and adhd might be overrepresented in klinefelter syndrome, but previous investigations have yielded inconclusive results. Symptoms and conditions also mentioned with autism in patients discussions. For example, klinefelter syndrome is a common genetic cause of male infertility, but the risk of a transmitting man with klinefelter syndrome having a son with a karyotype associated clinical features and diagnosis of male hypogonadism view in chinese.
About 10 percent of boys and men with klinefelter syndrome have autism spectrum disorder. In 1942, klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. Populationbased studies of autism have found that klinefelter s syndrome ks, a common chromosome abnormality, is sometimes associated with autism. Klinefelter syndrome gets its name from a publication in 1942 by klinefelter, reifenstein, and albright describing a series of patients with gynecomastia, small testes, aspermatogenesis, androgen deficiency, and increased levels of follicle stimulating hormone. Klinefelter syndrome is a genetic condition affecting male sexual development females are not affected. Xxy, klinefelter syndrome, xyy, xxyy, autism spectrum disorder. Asperger syndrome, autism were allocated subordinate. The potential implication with regard to autism spectrum disorders has not been previously discussed in the literature. Scores of 31 xxy men on the scale for interpersonal behavior and the autism spectrum questionnaire were compared to 24 and 20 control men respectively. The nichd is one of many federal agencies and nih institutes working to understand ks, discover why it occurs, and. A condition in males who have xxy sex chromosomes, rather than the usual xy. Of particular interest at that time was the association of primary hypogonadism with. Klinefelter syndrome is a genetic condition affecting males, and it often isnt diagnosed until adulthood.
Psychiatric characteristics in a selfselected sample of boys with. Men with this syndrome have an extra x chromosome, giving rise to the xxy chromosomal pattern. We present a 7yearold boy with a long history of multiple behavioral concerns, poor school performance, repetitivecompulsive tendencies, poor social skills, and language delays. About 60% of embryos with klinefelter syndrome do not survive the fetal period. By the late 1950s, researchers discovered that men with this group of. Handbook of genetic counselingklinefelter syndrome. However, few detailed case descriptions of patients with ks and autism have not been published. Klinefelter syndrome definition of klinefelter syndrome by. Klinefelter syndrome is the most frequent chromosomal aneuploidy with a prevalence of 1. Many of the signs of klinefelter syndrome also occur in children with other conditions, or children who do not have an underlying diagnosis, which makes detecting klinefelter syndrome in childhood difficult. You have in your sources 2 pieces of literature that bear this out.
Populationbased studies of autism have found that klinefelters syndrome ks, a common chromosome abnormality, is sometimes associated with autism. For those who arent familiar, ks is one of the most common intersex conditions in which a genetic male inherits at least one extra copy of the x chromosome. If klinefelter syndrome is not diagnosed prenatally, a patient with 47,xxy karyotype may demonstrate various subtle, agerelated clinical signs that would prompt diagnostic testing. I spoke with an individual a few days ago who had klinefelter syndrome ks. Klinefelter syndrome symptoms and causes mayo clinic. Klinefelter syndrome ks is the most common chromosomal aberration in men. Klinefelter syndrome ks nichd eunice kennedy shriver.
Request pdf autism spectrum disorder and klinefelter syndrome autism is a severe handicapping disorder of early childhood characterized by a distinct. Some also have additional x chromosomes, or more than one y chromosome. Boys and men with klinefelter syndrome ks have two or more copies of the x. Doctors should note that boys with klinefelter syndrome are also at risk of developing autism. Vulnerability for autism traits in boys and men with an extra x. The syndrome was first identified and described in 1942 by harry fitch klinefelter jr. Harry klinefelter and his coworkers first described the combination of features that has come to be recognized as klinefelter syndrome. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of 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. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. Mar 30, 2007 autism is a severe handicapping disorder of early childhood characterized by a distinct pattern of social and communication impairment with rigid ritualistic interests. Autism is a severe handicapping disorder of early childhood characterized by a distinct pattern of social and communication impairment with rigid ritualistic interests. Most commonly, a male with klinefelter syndrome will be born with 47 chromosomes in each cell, rather than the normal number of 46. The multiple cases of 47,xxy females are all the more reason to not use the outdated term klinefelter syndrome since 1 not all xxys are male 2 not all xxy males have klinefelter syndrome and 3 not all males with klinefelter syndrome are xxy or variant, some are xy. Klinefelter syndrome is a fairly common genetic condition found in males only.
Klinefelter syndrome is a condition caused by an abnormal karyotype 2 or more x chromosomes and one y chromosome that is present at the time of conception. Klinefelter syndrome ks is a chromosomal condition 47, xxy that may help us. We examined specific social abilities and autism traits in klinefelter syndrome. It can cause a variety of problems, including a small penis, small testes and infertility. Autism spectrum disorder and klinefelter syndrome request pdf. It is relatively common, occurring in about 1 of every 500 baby boys. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Marked by poor coordination, klinefelter syndrome is one of the most common chromosomal disorders, occurring in to live male births.
Klinefelter syndrome is a genetic condition affecting males. Klinefelter syndrome symptoms there are varying symptoms and degrees of severity which may occur in males with klinefelter syndrome. The xxy condition that causes klinefelter syndrome cant be. Learn vocabulary, terms, and more with flashcards, games, and other study tools. See more ideas about x chromosome, disorders and genetics. Klinefelter syndrome association of canada nord national. A rare chromosomal genetic syndrome where the person has xxy chromosomes instead of xy or xx.
Understanding klinefelter syndrome, a guide for xxy males and their families, by robert bock 1993, national institute of health. Chromosomes, found in all body ce we use cookies to enhance your experience on our website. Autism spectrum disorder, klinefelter syndrome, and. Klinefelter syndrome is the presence of an extra x chromosome in a male.
Pdf the association of klinefelter syndrome and multiple. However, there is no easy formula to meet the language needs of all children with klinefelter syndrome. Klinefelter syndrome and risk of psychosis, autism and. Most commonly, affected individuals are taller than average are unable to father biological children infertile. Ks most commonly due to extra x chromosome, resulting in 47xxy karyotype extra x chromosome is from mother 50% and from father 50% of time variations including mosaicism with 46xy, or other karyotypes ex.
Autism spectrum disorder in males with sex chromosome aneuploidy. Individuals with an extra x chromosome klinefelter syndrome are at risk for problems in social functioning and have an increased vulnerability. Apr 06, 20 the appearance of signs of klinefelter syndrome in childhood can vary greatly and range from mild to those that are more obvious. Social behavior and autism traits in a sex chromosomal. Males with polyx klinefelter syndrome have more than one extra x chromosome, so their symptoms might be more pronounced than in males with ks. Autism and xxyklinefelter syndrome ambitious about autism. Autism spectrum disorder and klinefelter syndrome springerlink. Males with this disorder may have larger than normal breasts, a lack of facial and body hair, a rounded body type, and small testicles. Klinefelter syndrome for parents childrens mercy hospital.
Medical management of klinefelter syndrome xxy in adults. Jun 4, 2019 klinefelter syndrome is a genetic disorder that affects males. Nearly half of all men with klinefelter syndrome develop metabolic syndrome, which is a group of conditions that include type 2 diabetes, high blood pressure hypertension, increased belly fat, high levels of fats lipids such as cholesterol and triglycerides in the blood. The manifestations exhibit depending on the number of xxy cells that the male has, the age his condition was diagnosed, and the amount of testosterone in the body. Autism spectrum disorder in males with sex chromosome. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. With an additional x chromosome, klinefelter syndrome boys are tall but eunuchoid fig.