🔴 Part VI - “Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology.”

Episodes 5 to 11 are dedicated to the most extensive review of research on XXY to date. Episode 10 (Part VI) shows XXY children and adults have 10x higher incidence of dyslexia, with reading & writing challenges in 75% of cases. Executive function can also be affected. Some of these issues may dissipate in adulthood, possibly due to acquisition of environmental learning skills.

Brain structure variations may explain such differences, not all necessary negative. For instance XXY males have increased blood oxygen brain levels when listening to sounds and using their hands, and normal adaptation to perceptual input.

75% find Quality of Life negatively impacted on all scales of the WHO’s QoL Assessment, with poor sleep a particularly strong predictor. The majority of are dissatisfied with health care services. The authors call for improved education of health care providers and emphasize the need for a holistic approach.

Authors: Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore and Anne Skakkebæk.

Publication: Endocrine Reviews, 2018. doi: 10.1210/er.2017-00212. Original Article (pdf download) available on chromodiversity.com.

Keywords: #Neurocognition #QoL #Socioeconomics #Intelligence #Language #ExecutiveFunction #BrainStructure #SkewedXchromosomeInactivation #BOLDsignal #FunctionalNeuroimagining #ExperientialLearning

🔴 Part V - “Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology.”

Episodes 5 to 11 are dedicated to the most extensive review of research on XXY to date. Episode 9 (Part V) shows that XXY is associated to a more severe range of physical issues than previously thought, many of which can be avoided or reduced through preventive measures. For instance lifelong risk of Venous Thrombosis (VTE) is multiplied by 6 overall & by 12 in individuals under 30, increasing morbidity & mortality at a young age: low dose aspirin or statins are likely to be helpful. Early osteoporosis is far more common: a combination of vitamin B, calcium supplementation and testosterone may keep these issues at bay.

While used to be thought most XXY males could not have biological children, this is no longer the case. mTESE technology results in up to 50% success rates in retrieving viable sperm. KS can also affect sexual function: while testosterone therapy may help, metabolic & psychological issues also need to be addressed.

Authors: Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore and Anne Skakkebæk.

Publication: Endocrine Reviews, 2018. doi: 10.1210/er.2017-00212. Original Article (pdf download) available on chromodiversity.com.

Keywords: #XXY, #CardiovascularDisease #Vasculature #VenousThrombosis #CerebrovascularDisease #Osteoporosis #AutoimmuneDisease #AddisonDisease #Diabetes #MultipleSclerosis, #Hypothyroidism #RheumatoidArthritis, #SjogrenSyndrome, #LupusErythematosus #Fertility #mTESE #cryopreservation #SexualDysfunction

🔴 Part IV - “Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology.”

Episodes 5 to 11 are dedicated to the most extensive review of research on XXY to date, divided into 7 parts for ease of listening.

Episode 8 (Part IV) shows that many XXY males go through puberty without being detected, yet hypogonadism invariably presents significant problems sooner or later. Rarely diagnosed, it can be easily identified through routine palpation of the testes, and is one of the most straightforwards aspects of KS to treat with testosterone from puberty onwards.

XXY also results in 5 times higher risk Diebetes II, and almost 50% of individuals end up metabolical syndrome, However it seems to be a myth that testosterone treatment helps, as metabolic syndrome seems present from childhood on (truncal obesity in childhood is its biggest predictor). Other earlier age measures such as physical activity and limitation of sugar intake may be more effective.

Authors: Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore and Anne Skakkebæk.

Publication: Endocrine Reviews, 2018. doi: 10.1210/er.2017-00212. Original Article (pdf download) available on chromodiversity.com.

Keywords: #HypergonadotropicHypogonadism, #FSH #LH #Testes #BMI #InsulinResistence #MuscleBuildup #Glucose #MetabolicSyndrome #TruncalObesity #Diabetes #AutoimmuneDisease #Genomics #Diet #Exercise

🔴 Part III - “Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology.”

Episodes 5 to 11 are dedicated to the most extensive review of research on XXY to date. Episode 7 (Part III) shows that genes alone cannot explain the wide range of health risks related to the presence of an extra X chromosome. It is now thought other mechanisms are at play such as as the complex and subtle ways genes express themselves through epigenetics and the transcriptome.

Although mechanisms remain elusive, the resulting health risks are well know. What is clear is that genetics are not destiny, and early diagnosis and intervention should allow to take preventive measures and improve lifelong outcomes.

Authors: Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore and Anne Skakkebæk.

Publication: Endocrine Reviews, 2018. doi: 10.1210/er.2017-00212. Original Article (pdf download) available on chromodiversity.com.

Keywords: #KS #47XXY #47XYY #TurnerSyndrome #Genotype #Phenotype #MeioticDivision #CAGrepeatlength #azoospermia #SHOXgene #epigenome #transcriptome

🔴 Part II - “Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology.”

Episodes 5 to 11 are dedicated to the most extensive review of research on XXY to date. Episode 6 (Part II) shows that despite high prevalence and low diagnosis rates, KS results in elevated morbidity for almost all International Classification of Diseases and Related Health Problems (except Diseases in the Newborn), including endocrine, psychiatric, neurological, circulatory, pulmonary gastrointestinal, skin, musculoskeletal and urogenital diseases, as well as higher risk of infections, anemia, trauma, intoxication and certain cancers.

As a result, the authors advocate for the introduction of systematic population-based neonatal screening.

Authors: Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore and Anne Skakkebæk.

Publication: Endocrine Reviews, 2018. doi: 10.1210/er.2017-00212. Original Article (pdf download) available on chromodiversity.com.

Keywords: #KlinefelterSyndrome, #Prevalence #Morbidity #Mortality #Hypogonadism #Hypothyroidism #CardiovascularDiseases #COPD #Asthma #Osteoarthritis #Ulcus #Gynecomastia #Diebetes #NeonatalScreeing

🔴 PART I - “Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology.”

Episodes 5 to 11 are dedicated to the most extensive review of research on 47,XXY (Klinefelter syndrome / KS) to date. Published in 2018, it presents a comprehensive interdisciplinary examination of KS and highlights the importance of multidisciplinary care lasting the full spectrum of life from early childhood onwards.

For ease of listening, we have divided up the review in seven parts. Episode 5 (Part I) is a short introductory episode that introduces key risks and challenges of KS, and summarizes 6 essential points.

Authors: Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore and Anne Skakkebæk.

Publication: Endocrine Reviews, 2018. doi: 10.1210/er.2017-00212. Original Article (pdf download) available on chromodiversity.com.

Keywords: #KlinefelterSyndrome, #DiagnosticChallenges #DNAmethylation #MorbidityAndMortality #Hypogonadism #Testosterone #Neurocognition #MultidiscipinaryClinics

⚫️ “Cortical gray matter structure in boys with Klinefelter syndrome.”

Published in 2021, a study by Stanford University scientists based on neuroimaging focuses for the first time not only on differences in thickness in certain areas of the brain of Extra X males (KS) but also on brain surface variations. At the same time it avoids any testosterone treatment bias that may have skewed previous MRI neuroimaging studies, by working with non-treated prepubertal or early pubertal boys only.

This new approach seems to show more convincing correlations between KS brain variations and typical cognitive and behavioral variations than previously observed, for instance in the area of facial emotion recognition - a topic discussed in Episode 3 from the point of view of early age prevention.

At the same time it clarifies and puts on more solid ground a number of points raised in previous research related to neurocognition discussed in Episode 10.

Authors: Lara C. Foland-Ross, Maureen Gil, Sharon Bade Shrestha, Lindsay C. Chromik, David Hong, Allan L. Reiss.

Publication: Psychiatry Research: Neuroimaging, 2021.

© 2021 Elsevier B.V. doi:10.1016/j.pscychresns.2021.111299. Original Article (pdf download) available on chromodiversity.com.

Keywords: #BrainStructure #KlinefelterSyndrome #XXY #Testosterone #MRI #Genetics

🔴 "Early Preventive Intervention for Young Children With Sex Chromosome Trisomies (XXX, XXY, XYY): Supporting Social Cognitive Development Using a Neurocognitive Training Program Targeting Facial Emotion Understanding."

It is known that adults with Sex Chromosome Trisomies (SCTs) often have trouble recognizing facial emotions, which can adversely affects lifelong social and professional outcomes. Published in 2022, this paper is the first to evaluate efficacy of facial emotion neurocognitive training in young children with an extra chromosome. .

The authors discovered that by completing a simple 15 minute a day 4 week training program. SCT children aged 4 to 8 not only showed improvement in facial emotion recognition, their ability actually reached a level that could no longer be distinguished from typically developing children. They emphasize “there is a great need for early preventative intervention programs to optimize outcome, especially with the increase in prenatal diagnosis due to recent advances in non-invasive prenatal screening.”

Authors: Nienke Bouw, Hanna Swaab and Sophie van Rijn (2022). Publication: Frontiers in Psychiatry 13:807793. doi: 10.3389/fpsyt.2022.807793. Original Article (pdf download) available on chromodiversity.com.

Keywords: #NeurocognitiveTraining, #FacialEmotionUnderstanding, #SexChromosomeTrisomies #KlinefelterSyndrome, #TripleX.

🔴 "Exploring Academic and Character Strengths in Students with Sex Chromosome Aneuploidies."

Published in 2022, this paper is the first to systematically explore academic and character strengths in children with extra sex chromosomes, also called Sex Chromosome Aneuplodies (SCAs) such as Klinefelters (KS), 47XYY and Triple X.

The authors discovered that all SCA children with an extra X or Y chromosome have similarly high rated strengths in perseverance and love of learning. The most frequently identified strength in both boys and girls with an extra X chromosome is kindness. Particular strengths in boys with an extra Y chromosome include curiosity, teamwork and humor.

While up to now research on genetic variations had focused almost exclusively on pathologies and deficits, the authors cite research that shows identifying and focusing on childrens' "signature strengths" improves academic results. It also boosts overall happiness, mood, life satisfaction and wellbeing - not only of the children themselves but their parents as well.

Authors: Talia Thompson, Shanlee Davis, Stephanie Takamatsu, Susan Howell, Nicole Tartaglia.

Publication: Journal of Positive Psychology, 2022. doi: 10.47602/jpsp.v6i1.262. Original Article (pdf download) available on chromodiversity.com.

Keywords: #SexChromosomeAneuploidy, #PositivePsychology, #CharacterStrengths, #MixedMethods, #KlinefelterSyndrome, #SchoolPsychology

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Unlike many others, our charity has no pharmaceutical industry or other type of 'for profit’ backers. Just the determination and passion to deliver clear, evidence-based information that is always free from commercial influence. Information like this is vital to change lives - and for demanding better for families, children and adults living with chromosomal differences at a time of exploding diagnoses.

We know not everyone is in a position to pay for podcasts. But as a listener funded podcast, we rely on the backing of those who can. When you donate, you’re supporting our mission to change the way the world considers and supports common genetic diversity. Millions more can benefit from quality information about how to prevent adverse outcomes and live better lives.

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🔴 “The Lived Experience of Klinefelter Syndrome, A Narrative Review of the Literature.”

In a 2019 review covering two decades of research about lived experience, healthcare provision for children & adults with Klinefelter syndrome (KS) is described as generally poor, misinformed and lacking expertise. The review notes consensus around the importance of a multidisciplinary teams as a means of providing effective care, yet such coordinated approaches are seen to be lacking.

The authors cite only 6% diagnosis in children prior to age 10, and call for “inclusion of this otherwise hidden group”, with a central focuses on what actually matters to those with KS in order to “make positive improvements to diagnosis, outcomes and encounters with healthcare professionals”, as well as the “need for good quality professional support to plan for the care of children with KS”.

Authors: Hanna ES, Cheetham T, Fearon K, Herbrand C, Hudson N, McEleny K, Quinton R, Stevenson E, Wilkes S; Edited: Alberto Ferlin. Reviewed: Claus H. Gravholt, Anne Skakkebaek

Publication: Frontiers in Endocrinology, 2019. doi: 10.3389/fendo.2019.00825. Original Article (pdf download) available on chromodiversity.com.

Keywords: #Klinefeltersyndrome, #geneticdisorders, #fertility, #patientexperience, #narrativeliteraturereview