KLINEFELTER SYNDROME
RESEARCH PAPER INDEX

Below, you’ll find a compilation of Klinefelter Syndrome research papers sourced from the internet. It’s important to remember that while these papers offer valuable insights, they may not directly apply to you or your son. Klinefelter syndrome manifests uniquely for each individual, falling on a spectrum.

We’ve highlighted the dates of each research paper to provide context regarding when it was written. Additionally, consider the sample sizes of the studies to gauge their significance.

Our aim is to empower our community with access to these articles while continually seeking updated information. Thank you for your engagement.

Anxiety, Depression, Behavior

Testosterone

Morbidity in Klinefelter syndrome and the effect of testosterone treatment. 2020

Androgen treatment effects on hippocampus structure in boys with Klinefelter Syndrome. 2020

Androgen treatment effects on hippocampus structure in boys with Klinefelter Syndrome. 2020

Androgen Treatment Effects on Motor Function, Cognition and Behavior in Boys with Klinefelter Syndrome. 2020

Testosterone Therapy and General Health. 2020

A placebo-controlled randomized study with testosterone in Klinefelter syndrome- beneficial effects on body composition. 2019

Testosterone treatment and association with thrombin generation and coagulation inhibition in Klinefelter syndrome- A cross-sectional study. 2019

Testosterone Treatment in Infants With 47,XXY- Effects on Body Composition. 2019

Testosterone Therapy in Men With Hypogonadism- An Endocrine Society* Clinical Practice Guideline. 2018

Testosterone in Infants with XXY. 2018

Salivary testosterone in relation to social cognition and social anxiety in children and adolescents with 47,XXY (Klinefelter syndrome). 2018

Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. 2017

Klinefelter syndrome Testosterone Types and Discussion 2016

Klinefelter syndrome Testosterone levels and depression 2015

Short QTc Interval in Males with Klinefelter Syndrome—Influence of CAG Repeat Length, Body Composition, and Testosterone Replacement Therapy. 2015

Positive Effects of Early Androgen Therapy on the Behavioral Phenotype of Boys with 47,XXY. 2015

Risk of Myocardial Infarction in Older Men Receiving Testosterone Therapy. 2014

Low INSL3 in Klinefelter syndrome is related to osteocalcin, testosterone treatment and body composition, as well as measures of the hypothalamic–pituitary–gonadal axis. 2014

Long-Term Testosterone Therapy Does Not Increase the Risk of Prostate Cancer. 2014

Effect of testosterone replacement therapy on bone mineral density in patients with Klinefelter syndrome. 2013

Androgens helped even young boys with Klinefelter’s. 2013

Klinefelter syndrome Testosterone Review 2013 Dr. Zajac

Considerations for Androgen Therapy in Children and Adolescents with Klinefelter Syndrome (47, XXY). 2011

Hypogonadism in the Aging Male Diagnosis, Potential Benefits, and Risks of Testosterone Replacement Therapy. 2011

Klinefelter syndrome Testosterone guidance Tartaglia 2010

Testosterone Therapy in Men with Androgen Deficiency Syndromes- An Endocrine Society Clinical Practice Guideline. 2010

High normal testosterone levels in infants with non-mosaic Klinefelter’s syndrome. 2007

Bone mineral density…2001

Education, IEP, and 504

ADHD and ADD

Fertility

Brain and Cognitive

Early neurodevelopmental and medical profile in children with sex chromosome trisomies. 2020

The Association of Motor Skills and Adaptive Functioning in XXY:Klinefelter and XXYY Syndromes. 2020

Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome. 2020

A neuroscience researcher reveals 4 rituals that will make you a happier person. 2018

A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47,XYY). 2018

Neuropsychology and socioeconomic aspects of Klinefelter syndrome- new developments. 2015

Lifestyle Intervention Slows Cognitive Decline in Randomized Trial. 2015

Klinefelter syndrome Denmark Study summary and observations 2015

Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile. 2014

Neuropsychology and brain morphology in Klinefelter syndrome the impact of genetics. 2014

Cognitive and neurological aspects of sex chromosome aneuploidies. 2014

Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile. 2013

Neural systems for social cognition in Klinefelter syndrome (47,XXY)- evidence from fMRI. 2012

The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. 2011

Neuroanatomical Phenotype of Klinefelter Syndrome in Childhood- A Voxel-Based Morphometry Study. 2011

Handbook of pediatric neuropsychology. 2010

Klinefelter’s syndrome and psychoneurologic function. 2010

Anatomic Magnetic Resonance Imaging of the Developing Child and Adolescent Brain and Effects of Genetic Variation. 2010

The Cognitive Phenotype in Klinefelter Syndrome- A Review of the Literature Including Genetic and Hormonal Factors. 2009

An extra X or Y chromosome- contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. 2009

Puberty-related influences on brain development. 2006

The Structural Brain Correlates of Cognitive Deficits in Adults with Klinefelter’s Syndrome. 2006

Klinefelter’s Syndrome (XXY) as a Genetic Model for Psychotic Disorders. 2005

Executive Functions

Social

Health and Other Research

eXtraOrdinarY Kids Program Research newsletter Fall 2020

High prevalence of cardiometabolic risk features in adolescents with 47,XXY:Klinefelter syndrome. 2020

The epidemiology of sex chromosome abnormalities. 2020

Special Issue on Sex chromosome aneuploidies. 2020

Human chorionic gonadotropin stimulation gives evidence of differences in testicular steroidogenesis in Klinefelter syndrome, as assessed by liquid chromatography–tandem mass spectrometry. 2020

Minipuberty in Klinefelter syndrome- Current status and future directions. 2020

European Acedemy of Andrology (EAA) GUIDELINES ON KLINEFELTER SYNDROME. 2020

Metabolic and cardiovascular risk factors in Klinefelter syndrome. 2020

Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome. 2020

The Expert in the Room- Parental Advocacy for Children with Sex Chromosome Aneuploidies. 2020

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome- a nationwide cohort study. 2019

Delivering the Diagnosis of Sex Chromosome Aneuploidy- Experiences and Preferences of Parents and Individuals. 2019

The Lived Experience of Klinefelter Syndrome- A Narrative Review of the Literature. 2019

Sex differences in psychiatric disorders- what we can learn from sex chromosome aneuploidies. 2019

Recent advances in managing and understanding Klinefelter syndrome. 2019

Management of cardiovascular complications in Klinefelter syndrome patients. 2019

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome. 2018

Klinefelter Syndrome- Integrating Genetics, Neuropsychology, and Endocrinology. 2018

Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome.2018

Klinefelter syndrome- more than hypogonadism. 2018

Helpful APPS Autism App Matrix CTD April 2017

Effects of Oxandrolone on Cardiometabolic Health in Boys With Klinefelter Syndrome- A Randomized Controlled Trial. 2017

Quality of life in men with Klinefelter syndrome- the impact of genotype, health, socioeconomics, and sexual function. 2017

Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. 2016

International Workshop on Klinefelter Syndrome. 2016

The Klinefelter syndrome- current management and research challenges. 2016

The Impact of Living with Klinefelter Syndrome- A Qualitative Exploration of Adolescents and Adults. 2016

In the Dark- Challenges of Caring for Sons with Klinefelter Syndrome. 2015

Klinefelter syndrome and medical treatment- hypogonadism and beyond. 2015

Tremor and Klinefelter’s Syndrome. 2015

Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. 2015

Bone Geometry, Volumetric Density, Microarchitecture, and Estimated Bone Strength Assessed by HR‐pQCT in Klinefelter Syndrome. 2014

Management of Klinefelter syndrome during transition. 2014

Klinefelter Syndrome The Commonest Form of Hypogonadism, but Often Overlooked or Untreated. 2013

A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis. 2013

Timing of Diagnosis of 47,XXY and 48,XXYY- A Survey of Parent Experiences. 2013

Klinefelter Syndrome—A Clinical Update. 2012

Vulnerability for autism traits in boys and men with an extra X chromosome(47,XXY)- The mediating role of cognitiveflexibility. 2012

Klinefelter’s syndrome—a diagnosis mislaid for 46 years. 2012

Living with Klinefelter Syndrome A Guide for Families and Individuals Affected by Extra X and Y Chromosome Variations. 2012

The prevalence and diagnosis rates of Klinefelter syndrome- an Australian comparison. 2011

Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening- Klinefelter syndrome as an example. 2010

Consensus statement on diagnosis and clinical management of Klinefelter syndrome. 2010

Structural and Functional Neuroimaging in Klinefelter (47,XXY) Syndrome- A Review of the Literature and Preliminary Results from a Functional Magnetic Resonance Imaging Study of Language. 2009

Serum Insulin-Like Factor 3 Levels during Puberty in Healthy Boys and Boys with Klinefelter Syndrome. 2006

Klinefelter syndrome and other sex chromosomal aneuploidies. 2006

Cancer Incidence and Mortality in Men with Klinefelter Syndrome- A Cohort Study. 2005

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