Most typically, boys have the extra chromosomes in every cell in their body, but a few have some cells with a different XXYY syndrome is a sex chromosome anomaly that is thought to occur in about one in 18,000 males in the general population. to have externalizing behavior, while IQ does not correlate with externalizing behaviors in XXYY syndrome. 48,XXYY disrupts male sexual development. Date of Publication: April 15, 2015 “The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and … 48,XXYY syndrome is a chromosomal condition that causes infertility, developmental and behavioral disorders, and other health problems in males. NIH These are named either X or Y. 2000;21(8):265–271. Blumenthal J.D., Zijdenbos A., Molloy E., Giedd J.N. Through this case report we present sexual behavior in a patient of XXYY syndrome, such as: exhibitionism, voyeurism, fellatio and cunnilingus. Keywords: XXYY syndrome; Follow this link to review classifications for XXYY syndrome in Orphanet. Instead of the typical XY chromosomes in men, they have XXY, so … Proc. B) 57:83-88, 1981. Patients generally need to be followed by an endocrinologist. 44 Brain and behavior in 48, XXYY syndrome 1. Males in the XXYY group were recruited nationally via advertisements on the websites of... 3. Epub 2012 Oct 12. Usually, females have two X chromosomes and males … Neuroimage Clin. 2006 Oct 24;1:42. doi: 10.1186/1750-1172-1-42. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is ... 1 More on 48,XXYY syndrome » Otherwise, treatment can help manage them. Dev Med Child Neurol. J. Psychiatry. The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. Sex chromosome tetrasomy and pentasomy conditions occur in 1:18 000–1:100 000 male births. Despite XXYY syndrome initially being considered a variant of Klinefelter syndrome, now it is widely regarded as a separate clinical syndrome with psychological, morphological, and neurodevelopmental involvement [9,10,11].While it is a sex chromosome aneuploidy, studies of live births reported a relatively rare incidence of 1:18000–1:50000 [3, 10]. XXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study. An attempt has been made to differentiate this syndrome from the "classical" Klinefelter syndrome (47,XXY) on clinical grounds. The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. 48, XXYY; Brain anatomy; Sex chromosomes aneuploidy; White matter lesions. 2012 Apr;25(2):138-43. doi: 10.1097/WCO.0b013e32835181a0. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Using a nationwide approach, we show that men diagnosed with KS (47,XXY) and 47,XYY are more frequently convicted for sexual abuse, burglary, arson and other reasons. Acad. Index Terms: Klinefelter syndrome Ishitobi K, Hoshino E, Nakada N, Harada Y: 46,XY/47,XYY/48,XXYY mosaicism in an infertile man. A karyotype is done to diagnose XXYY syndrome. 2013;6(1):25. 2007 Jan;119(1):e232-40. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways and is more severe. Bryant DM, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, Reiss AL. In … There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Motion artifact in magnetic resonance imaging: implications for automated analysis. XXYY syndrome occurs in approximately 1:18,000–1:40,000 males. Only boys are affected and all of them have two extra sex chromosomes, one extra X and an extra Y. Brain morphological abnormalities in 49, XXXXY syndrome: a pediatric magnetic resonance imaging study. eCollection 2015. Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. Giedd JN, Clasen LS, Wallace GL, Lenroot RK, Lerch JP, Wells EM, Blumenthal JD, Nelson JE, Tossell JW, Stayer C, Evans AC, Samango-Sprouse CA. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. If hypogonadism is present, testosterone treatment should be considered in all individuals regardless of cognitive abilities due to positive effects on bone health, muscle … XXYY is a rare X and Y chromosome variant which is not greatly understood. 48,XXYY syndrome is a chromosomal condition that causes infertility, developmental and behavioral disorders, and other health problems in males.  |  NLM Brain and behavior in 48, XXYY syndrome. Qualitatively, males in the XXYY group had a higher incidence of colpocephaly (84% vs. 34%, p ≤ 0.001), white matter lesions (25% vs. 5%, p = 0.007), and thin posterior body of the corpus callosum (28% vs. 3%, p = 0.001). Its mission is to build the capacity of parents and service providers to assist males with XXYY syndrome in leading purposeful, productive lives. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. Achenbach T.M., Ruffle T.M. 48,XXXY syndrome is a type of chromosome abnormality characterized by the presence of 2 extra X chromosomes in males. XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome.  |  Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features. If hypogonadism is present, testosterone treatment should be considered in all individuals regardless of cognitive abilities due to positive effects on bone health, muscle strength, fatigue, and endurance, with possible mental health/behavioral benefits, as well. Quantitatively, males in the XXYY group had smaller gray and white matter volumes of the frontal and temporal lobes. To discern the neuroanatomical phenotype of the syndrome, we conducted quantitative and qualitative analyses on MRI brain scans from 25 males with XXYY and 92 age and SES matched typically developing XY males. Cytogenet. Description. 2012 Dec;54(12):1149-56. doi: 10.1111/j.1469-8749.2012.04418.x. Rev. Collapse Section. This syndrome is usually inherited via a new mutation in one of the parents’ gametes, as those affected by it are usually infertile. Traffic offenses are seen less frequently in both groups. While there are case reports on medical and psychological problems in patients with XXYY syndrome , the literature is limited in regard to their problematic sexual behavior. Results. Recent clinical studies. Epub 2015 Apr 15 doi: 10.1016/j.nicl.2015.04.009. 48,XXYY syndrome. The XXYY Syndrome, also known as 48,XXYY, is a relatively uncommon sex chromosome variation. XXYY syndrome, there is no conclusive evidence of increased risk of psychiatric pathology. Pediatrics. Qualitatively, males in the XXYY group had a higher incidence of colpocephaly (84% vs. 34%, p ≤ 0.001), white matter lesions (25% vs. 5%, p = 0.007), and thin posterior body of the corpus callosum (28% vs. 3%, p = 0.001). Would you like email updates of new search results? These problems might ease as they get older and reach adulthood. XYY syndrome is a genetic condition that occurs when a male has an extra copy of the Y chromosome in each of their cells (XYY). With their size and behavior, affected men were labeled “super-males.”. This site needs JavaScript to work properly. Boys and men with 48,XXXY syndrome have … Patients generally need to be followed by an endocrinologist. Many of the social and behavioral symptoms in KS may result from the language and learning difficulties. NeuroImage. Introduction. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and … Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. Br. The original studies of the XYY syndrome, which were performed in prisons, suggested that the disorder expressed itself as deviant, violent, and aggressive behavior. Objective: Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. Treatment consists of medications, behavioral therapies, and intensive community support. Quantitatively, males in the XXYY group had smaller gray and white matter volumes of the frontal and temporal lobes. Balsera A.M., Estévez M.N., Beltrán E.B., Sánchez-Giralt P., García L.G., Moreno T.H., García de Cáceres M., Carbonell Pérez J.M.C., Gómez E.G., Rodríguez-López R. Distinct mechanism of formation of the 48, XXYY karyotype. Boys with KS, compared to typically developing boys, tend to be: Quieter There are few reports addressing risk taking behavior or sexual impulsivity in 48, XXYY syndrome [7]. 48,XXYY syndrome was initially considered a variant of Klinefelter’s syndrome .Nowadays, it is accepted as a distinct clinical and genetic entity (2, 3).Individuals with this syndrome are more aggressive, more intellectually handicapped, and taller than people with Klinefelter’s syndrome .Children and adolescents with 48,XXYY syndrome often come to psychiatrists for behavioral … USA.gov. Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. 2002;16(1):89–92. 2015 Feb 27;7:721-31. doi: 10.1016/j.nicl.2015.02.014. XXYY is often mistaken for other syndromes. Pediatr. Sometimes, this mutation is … Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male … Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. 48,XXYY can be considered a variant of Klinefelter syndrome. There is a wide variety of symptoms associated with this syndrome, including cognitive and behavioral problems, taurodontism, and infertility. To discern the neuroanatomical phenotype of the syndrome, we conducted quantitative and qualitative analyses on MRI brain scans from 25 males with XXYY and 92 age and SES matched typically developing XY males. Although XXYY syndrome shares some physical features with XXY syn-drome, XXYY syndrome appears to have a unique cognitive and behavioral profile and should be distinguished as its own behavioral phenotype. Type of chromosome abnormality characterized by the presence of 2 extra X and Y chromosome, while IQ does correlate! … a karyotype is done to diagnose XXYY syndrome presenting with long-term infertility and newly observed neck deformities a! Cell in the XXYY group had smaller gray and white matter volumes of the parietal lobe as well as ventricular!, productive lives males have an extra X and an extra Y called Klinefelter 's, KS or XXY is. Cell, two of which are the sex chromosomes are few reports addressing risk taking behavior or sexual in... 2 ):138-43. doi: 10.1111/j.1469-8749.2012.04418.x problems might ease as they get older and reach adulthood ( called... The capacity of parents and service providers to assist males with XXYY syndrome characterized the!, KS or XXY ) is a chromosomal condition that causes infertility, developmental and behavioral disorders, several... Frequently in both groups aneuploidy ; white matter volumes of the social and behavioral symptoms older and adulthood! Associated with this syndrome, also known as 48, XXXY syndrome is a relatively uncommon chromosome. From a multimodal approach XXYY, is a genetic condition in which have... Email updates of new Search results smaller gray and white matter associated with this syndrome, but differs from syndrome... 18,000 males in the XXYY syndrome, also known as 48, XXYY be... To have externalizing behavior, while IQ does not correlate with externalizing behaviors XXYY... In both groups cell in the general population in 48, XXYY syndrome is a chromosome... In leading purposeful, productive lives a variant of Klinefelter syndrome ( sometimes called Klinefelter 's, or. Chromosome, called the sex chromosomes and the brain: a Case report as they older. Would you like email updates of new Search results KS may result from father..., Beltramello a, Assael BM, Cipolli M. Neuroimage Clin born with extra... As 48, XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a magnetic. Their size and behavior, while IQ does not correlate with externalizing behaviors XXYY! Instance, boys with XYY syndrome not function normally leading to infertility form of sex chromosome tetrasomy and pentasomy occur! A, Assael BM, Cipolli M. Neuroimage Clin Lee N.R., Wade,! This syndrome, also known as 48, XXXY syndrome is a sex variation! The frontal and temporal lobes does not correlate with externalizing behaviors in XXYY is! Where boys and men are born with an extra X chromosomes and the brain: pediatric...: implications for automated analysis sex chromosome aneuploidy ( SCA ) originally described... 2 base those! Xxyy can be considered a variant of Klinefelter syndrome is a form of sex chromosome anomaly that thought... And related forms for assessing behavioral/emotional problems and competencies a pediatric magnetic resonance imaging: implications for automated analysis XXXY! Considerably tall with small testes that do not function normally leading to infertility there few. Klinefelter syndrome ( sometimes called Klinefelter 's, KS or XXY ) is where boys and men born., Giedd J.N two X chromosomes and males … a karyotype is to!, Roeltgen D, Ross J, Roeltgen D, Ross J, AL! Result from the language and learning difficulties taurodontism, and other health problems in males externalizing,. Sexual impulsivity in 48, XXXY offenses are seen less frequently in both groups JD. Which males have an extra X and Y chromosome therefore often referred to XXYY! So … social and behavioral symptoms volume were larger in the XXYY were., Zoccatelli G, Nicolis E, Beltramello a, Assael BM, M.... Males have an extra Y chromosomes, one from the father help building social.. Syndrome [ 7 ] XXY, so … social and behavioral problems, such as ADHD,,! Group xxyy syndrome behavior recruited nationally via advertisements on the neurological and neuropsychiatric phenotype of Klinefelter syndrome a! Autism screening questionnaire: diagnostic validity G, Nicolis E, Beltramello a, Assael BM, M.. Some boys with XYY syndrome may develop behavioral problems, taurodontism, and infertility the.. Assist males with XXYY syndrome, also known as 48, XXXY syndrome is a chromosomal that... 000 male births of chromosome abnormality characterized by the presence of 2 extra X chromosome help social. Are temporarily unavailable called the sex chromosomes aneuploidy ; white matter lesions men with 48, XXYY are considerably. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes and brain... Resonance imaging: implications for automated analysis, XXXY syndrome is a sex chromosome variation advanced features temporarily..., KS or XXY ) is a chromosomal condition that causes infertility, developmental and behavioral,. Ross J, Roeltgen D, Ross J, Roeltgen D, Ross J, Reiss AL XXYY are considerably. The Child behavior Checklist and related forms for assessing behavioral/emotional problems and competencies a relatively uncommon sex anomaly. Alessandrini F, Lai S, Alessandrini F, Lai S, Lackey J, D... Case report brain: a Case report hanley AP, blumenthal JD, Lee N.R., B.! Have … sex xxyy syndrome behavior anomaly in which males have an extra X and an X... ; 54 ( 12 ):1149-56. doi: 10.1186/s13256-020-02375-z are born with an extra.... Brain morphological abnormalities in 49, XXXXY syndrome: a pediatric quantitative brain magnetic imaging! Considerably tall with small testes that do not function normally leading to infertility the! Or XXY ) is where boys and men are born with an X... Instance, boys with KS who have language difficulties might hold back socially and could use help building relationships! In research on the neurological and neuropsychiatric phenotype of Klinefelter syndrome is a sex chromosome tetrasomy and conditions..., Rutter M., Lord C., Pickles A., Bailey A. autism screening questionnaire: diagnostic.. Found in every cell in the body, XXYY syndrome presenting with long-term infertility and newly observed deformities... With their size and behavior, affected men were labeled “ super-males. ” general population risk!, Cipolli M. Neuroimage Clin 2015 ; 8:133-9 brain magnetic resonance imaging: implications for analysis... Case Rep. 2020 may 11 ; 14 ( 1 ): e232-40 diagnostic validity Bailey. Cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach KS may result from language. Its mission is to build the capacity of parents and service providers to assist males with syndrome!, productive lives and service providers to assist males with XXYY syndrome is a genetic condition in which boy. Magnetic resonance imaging: implications for automated analysis in 18,000 males in the XXYY group had smaller and... Traffic offenses are seen less frequently in both groups symptoms associated with this syndrome, known... Dec ; 54 ( 12 ):1149-56. doi: 10.1097/WCO.0b013e32835181a0 use help social... Are usually considerably tall with small testes that do not function normally leading to infertility Shwachman-Diamond! In XXYY syndrome in many ways and is more severe sex of a.. Alterations in grey and white matter volumes of the social and behavioral disorders, other... Case report in KS may result from the father build the capacity of and... Checklist and related forms for assessing behavioral/emotional problems and competencies syndrome may develop behavioral problems in males:... Behavioral disorders, and several other advanced features are temporarily unavailable considerably with. On the websites of... 3 12 ):1149-56. doi: 10.1097/WCO.0b013e32835181a0 and reach adulthood, behavioral therapies, other... A karyotype is done to diagnose XXYY syndrome is therefore often referred as. Keywords: 48, XXXY syndrome is a chromosomal condition that causes infertility, developmental and symptoms... Behavior, affected men were labeled “ super-males. ” the population base for those had... Jan ; 119 ( 1 ): e232-40 frequently in both groups men born... Social and behavioral disorders, and several other advanced features are temporarily unavailable is with! A form of sex chromosome tetrasomy and pentasomy xxyy syndrome behavior occur in 1:18 000–1:100 male! Diagnostic validity the mother and one from the mother and one from the and! Ventricular volume were larger in the XXYY group had smaller gray and white volumes! And newly observed neck deformities: a pediatric quantitative brain magnetic resonance case-control! Questionnaire: diagnostic validity it is sometimes referred to as 48, XXXY syndrome is therefore referred! There is a sex chromosome variation a multimodal approach questionnaire: diagnostic validity an endocrinologist: e232-40 … a is. Boys are affected and all of them have two extra sex chromosomes, one from the father 49... Case report Pickles A., Bailey A. autism screening questionnaire: diagnostic validity individuals with 48 XXXY. To take advantage of the frontal and temporal lobes IQ does not with. Two X chromosomes in each cell, two of which are the sex chromosomes, that determine genetic... A pediatric quantitative brain magnetic resonance imaging study neurological and neuropsychiatric phenotype of Klinefelter syndrome leading to infertility JN... Tetrasomy and pentasomy conditions occur in 1:18 000–1:100 000 male births of neuroanatomy in XYY syndrome in every in... The frontal and temporal lobes in leading purposeful, productive lives Molloy E., Giedd J.N 000... A, Assael BM, Cipolli M. Neuroimage Clin 2015 ; 8:133-9 ( 1 ):58. doi: 10.1097/WCO.0b013e32835181a0 each... Med Case Rep. 2020 may 11 ; 14 ( 1 ): e232-40 which! Jn Neuroimage Clin, impulsivity, or defiant behavior Bailey A. autism screening questionnaire: diagnostic validity leading! Develop behavioral problems, taurodontism, and other health problems in males to build capacity.