The Expert in the Room

Article Title: The Expert in the Room: Parental Advocacy for Children with Sex Chromosome Aneuploidies

Authors: Richardson, Riggan, and Allyse

Date of Publication: November 2, 2020

“Owing to fragmentation in the medical system, many parents of children with disabilities report taking on a care coordinator and advocate role. The parental advocacy and care coordination requirements are further amplified in this population because of a lack of awareness about sex chromosome aneuploidies (SCAs) in medical and social services settings, as well as the complex needs of affected children. This burden disproportionately affects mothers and low-resource families as a result of gendered ideas of parenthood and social stratification in resource access. The aim of this study is to understand the unique parental burdens of SCAs and family support needs.”

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The epidemiology of sex chromosome abnormalities

Article Title: The epidemiology of sex chromosome abnormalities

Authors: Berglund, Stochholm, and Gravholt

Date of Publication: May 11, 2020

“Sex chromosome abnormalities (SCAs) are characterized by gain or loss of entire sex chromosomes or parts of sex chromosomes with the best-known syndromes being Turner syndrome, Klinefelter syndrome, 47,XXX syndrome, and 47,XYY syndrome. Since these syndromes were first described more than 60 years ago, several papers have reported on diseases and health related problems, neurocognitive deficits, and social challenges among affected persons. However, the generally increased comorbidity burden with specific comorbidity patterns within and across syndromes as well as early death of affected persons was not recognized until the last couple of decades, where population-based epidemiological studies were undertaken. Moreover, these epidemiological studies provided knowledge of an association between SCAs and a negatively reduced socioeconomic status in terms of education, income, retirement, cohabitation with a partner and parenthood. This review is on the aspects of epidemiology in Turner, Klinefelter, 47,XXX and 47,XYY syndrome.”

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2020-06-16T17:22:47-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Early neurodevelopmental and medical profile in children with sex chromosome trisomies

Article Title: Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention

Authors: Tartaglia, Howell, Davis, Kowal, Tanda, Brown, Boada, Alston, Crawford, Thompson, Van Rijn, Wilson, Janusz, and Ross

Date of Publication: May 13, 2020

“This study aims to better describe and compare the natural history of SCT conditions, identify predictors of positive and negative outcomes in SCT, evaluate developmental and autism screening measures commonly used in primary care practices for the SCT population, and build a rich data set linked to a bank of biological samples for future study. Results from this study and ongoing international research efforts will inform evidence-based care and improve health and neurodevelopmental outcomes.”

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2020-06-16T17:00:13-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Article Title: Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Authors: Green, Flash, and Reiss

Date of Publication: January 2019

“The study of individuals with sex chromosome aneuploidies provides a promising framework for studying sexual dimorphism in neurodevelopmental and psychiatric disorders. Here we will review and contrast four syndromes caused by variation in the number of sex chromosomes: Turner syndrome, Klinefelter syndrome, XYY syndrome, and XXX syndrome. Overall we describe an increased rate of attention deficit hyperactivity disorder and autism spectrum disorder, along with the increased rates of major depressive disorder and anxiety disorders in one or more of these conditions. In addition to contributing unique insights about sexual dimorphism in neuropsychiatric disorders, awareness of the increased risk of neurodevelopmental and psychiatric disorders in sex chromosome aneuploidies can inform appropriate management of these common genetic disorders.”

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Cardiac Functioning and Blood Pressure of 47,XYY and 47,XXY Men

Article Title: Cardiac Functioning and Blood Pressure of 47,XYY and 47,XXY Men in a Double-Blind, Double-Matched Population Survey

Authors: Erik Boison, David R. Owen, Lejf Rasmussen, and Joseph Sergeant

Date of Publication: 1981

“This paper reports the electrocardiogram measures and blood pressure of 12 men with 47,XYY, 14 men with 47,XXY, and 52 matched controls with 46,XY. The abnormal karyotypes were identified in a systematic population search for XYY and XXY men. The subjects and their matched controls were examined in a double-blind fashion. Electrocardiogram measures of 47,XYY and 47,XXY men were found to differ from those of 46,XY controls. The XYYs had longer P-R intervals, shorter QRS complexes, and nonsignificantly longer R-R intervals than their matched controls. The XXYs showed longer R-R intervals and trends for prolonged P-R intervals and shorter QRS complexes when compared with their controls. Trends toward increased within-group variability in the XYY and XXY groups were observed in five of six variance tests, suggesting that the sex chromosome aneuploids have a cardiac conduction anomaly. Blood pressure measures of 47,XYY and 47,XXY men were found not to differ from those of 46,XY men. None of the measures revealed a significant difference between the XYYs and the XXYs.”

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2019-12-10T15:12:59-05:00Categories: 47,XXY (Klinefelter), 47,XYY|

Changes in the cohort composition of TS, severe non-diagnosis of KS, 47,XXX and 47,XYY syndrome

Article Title: Changes in the cohort composition of Turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Authors: Claus H. Gravholt, MD, PhD et al

Date of Publication: January 14, 2019

“The prevalence of TS is higher than previously identified, and the karyotypic composition of the TS population is changing. Non-diagnosis is extensive among KS, Triple X and Double Y, whereas all TS seem to become diagnosed. The diagnostic activity has increased among TS with other karyotypes than 45,X as well as among KS and Double Y.”

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Neurocognitive functioning and risk for psychopathology in sex chromosome trisomy

Article Title: A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47,XYY)

Authors: Sophie van Rijn, PhD

Date of Publication: March 2019

This paper reviews studies that illustrate an increased risk for social, emotional and behavioral problems in individuals with 47,XXY47,XXX, or 47,XYY. The primary focus of research in this area has been on language and learning problems; more recent research suggests that impairments in executive functioning, social cognition and emotion regulation may also be key factors underlying the risk for behavioral problems and mental disorders. Directions for future research are provided.

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2019-10-10T15:53:37-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

What is XYY? Meet Steve and Find Out

AXYS shares articles about our community members to help you gain understanding of X and Y chromosome variations on a personal level. Please enjoy this article and learn about XYY. Note: The name “Steve” is a pseudonym used upon request.

You’d notice Steve. A stocky guy, 6’6’’ tall, is hard to miss. But like most men with an X or Y variation, medically known as a sex chromosome aneuploidy (SCA), everyone missed his condition. 

As a child, Steve liked to sit quietly in the back of the class and daydream. He was a smart kid from an academically accomplished family. His teachers and family thought he was just not applying himself. “It was tough to hear the comments from ‘why are you acting so immature?’ to ‘what’s wrong with you?’ over and over.” 

He knew he was different and that school was harder for him, but nobody could explain why. In middle school his family finally got him tested. The child development experts diagnosed him with ADD and dyslexia and put him on medication. Steve did not react well to the meds; they gave him night terrors. 

Not only was school difficult, he had physical differences too. “I had low muscle tone,” said Steve. “That made sports challenging. I’d rather do individual activities like hiking.”  His parents required him to play sports. That was not enjoyable for a boy who had a harder time keeping up physically, found it hard to focus, and who missed social cues. Steve was not timid physically—he loved extreme sports like glade skiing. He also loved solitude and quiet. “I’d go hide in a corner and read a magazine.”

In spite of his challenges, Steve made it to college where he was an average student.  His love of learning served him well. “I like to go to museums, travel to places and explore. Reading about places is not enough.”

Despite social challenges, he married a college professor. When they had trouble getting pregnant they discovered he was not fertile because he produced no sperm. A low sperm count is not that unusual but to produce zero sperm was puzzling. 

Steve wanted to know: why he did not produce any sperm? Why did he get migraines? Why was his muscle tone low? Why did his hands get shaky? Why was he so much taller than his 5’ 9” father? But then came the Internet. Steve began to research his medical issues.

He came across something called Klinefelter Syndrome and took his knowledge to his primary care doctor. The doctor agreed to order some tests, but Steve, tired of waiting for answers, checked off a few more boxes on the lab sheet making sure a battery of tests was ordered, increasing the likelihood that he’d finally get the answer he sought. It was good thing he did, as he discovered his hormone levels were off. 

Steve was referred to an endocrinologist who ordered a karyotype (a picture of a person’s chromosomes) that finally gave him the answer. He had an extra sex chromosome. But not as he suspected–an extra X; Steve has an extra Y.  

He found a doctor that had treated men with XXY but never XYY. The condition is half as common–XYY affects about 1 in 1,000 males. In some individuals, the manifestations of XYY are mild and barely noticeable, while others have more severe symptoms. 

Steve read every research article on XYY he could find online. He learned that about 30% of those with XYY are diagnosed with an autism spectrum disorder. That explained his social issues. While most males with XYY have intelligence in the normal range, many have language-based and other learning disabilities. Other possible concerns include social skill disabilities, immaturity, low self-esteem, ADHD, impulsivity, and anxiety or mood disorders. After learning all of this Steve thought, “This sounds like me.” 

The difficulties a person with XYY has can be alleviated with medical and educational interventions. Speech and motor skill difficulties respond to therapy. Anxiety and mood disorders or ADHD can be treated with behavioral therapy, occupational therapy, and sometimes, appropriate medication. Special education accommodations and teaching methods can help those with XYY achieve academic success despite learning disabilities. Some individuals with XYY have significant anxiety related to school, and a change to a smaller classroom environment or an alternative learning setting, including part-time home schooling, can help. If only Steve had been diagnosed sooner. 

Sadly, when Steve got his diagnosis, his wife left him, citing his diagnosis. They had adopted a child who Steve raised as a single parent. Steve has a great job as the Student Center Administrator at a university; he’s been there over 30 years. “I learned that I need a hands-on job,” said Steve.  “I would not do well sitting behind a desk.” Steve described how he, like everyone, had to find his niche. He recommends that everyone “find where you fit in life.” 

It has not always been easy. His job was jeopardized by misunderstandings with a manager, but disclosing his diagnosis to the HR department and filing a claim with the EEOC straightened out the problem. “I knew the sudden poor performance reviews, when I had been a stellar employee, were discrimination, so I took action.” 

Today Steve is raising his son and works to educate healthcare providers and parents about XYY. “It is not that bad,” he says. Steve hopes that someday all doctors and educators will be well versed in sex chromosome aneuploidy (SCA) so people affected get diagnosed very young and can receive the interventions that make life easier. “I also hope they will treat the whole person, not just the symptoms. It is a holistic view that aids diagnosis of an SCA and really helps children.”

Steve served on the board of AXYS, the Association for X and Y Variations. He refers parents with questions to their website genetic.org and their toll free Helpline (888-999-9428) or helpline@genetic.org, where trained volunteers answer questions free of charge. He supports AXYS’ efforts to develop clinics for adults with SCA. “We need to know what to expect as we age,” said Steve. “A study back in the 80s reported that the average life expectancy of a man with XYY is 10 years less than average. For an XXY guy it is 5 years less. Maybe we can change that.”

2019-11-13T21:56:33-05:00Categories: 47,XYY|

Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY

Article Title: Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY

Authors: Nicole R Tartaglia, MD, Rebecca Wilson, PsyD, Judith S. Miller, PhD, Jessica Rafalko, Lisa Cordeiro, MS, Shanlee Davis, MD, David Hessl, PhD, and Judith Ross, MD

Date of Publication: April 2017

“The rate of ASD in children with SCA in this study was higher than expected compared to the general population. Males with Y chromosome aneuploidy (XYY and XXYY) were 4.8 times more likely to have a diagnosis of ASD than the XXY/KS group, and 20 times more likely than males in the general population based on the 2010 Centers for Disease Control (CDC) estimate of 1 in 42 males. ASD is an important consideration when evaluating social difficulties for children with SCA. Studies of males with SCA and Y-chromosome genes may provide insight into idiopathic ASD and male predominance in ASD.”

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2019-02-21T11:15:50-05:00Categories: 47,XXY (Klinefelter), 47,XYY, 48,XXYY|

Characterization of Autism Spectrum Disorder and Neurodevelopmental Profiles in Youth with XYY Syndrome

Article Title: Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome

Authors: Lisa Joseph, Cristan Farmer, Colby Chlebowski, Laura Henry, Ari Fish, Catherine Makiw, Anastasia Xenophontos, Liv Clasen, Bethany Saul, Jakob Seidlitz, Jonathan Blumenthal, Erin Torres, Audrey Thurm, and Armin Raznahan

Date of Publication: October 22, 2018

“XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data.”

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2018-11-05T21:04:17-05:00Categories: 47,XYY|
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