47,XXY (Klinefelter)

/47,XXY (Klinefelter)

Recent advances in managing and understanding Klinefelter syndrome

Article Title: Recent advances in managing and understanding Klinefelter syndrome

Authors: Priyanka Bearelly and Robert Oates

Date of Publication: January 28, 2019

“Klinefelter syndrome can present as a wide spectrum of clinical manifestations at various stages in life, making it a chromosomal disorder with no standardized set of guidelines for appropriate management. Understanding the genetic and hormonal causes of this syndrome can allow physicians to treat each patient on a more individualized basis. The timing of diagnosis and degree of symptoms can guide management. This report will provide an updated review of the clinical presentation at various stages in life and the implications for management.”

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2019-04-01T11:09:48-04:00Categories: 47,XXY (Klinefelter)|Tags: |

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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2019-02-21T11:15:50-04:00Categories: 47,XXY (Klinefelter), 47,XYY, 48,XXYY|

DNA Hypermethylation and Differential Gene Expression Associated with Klinefelter Syndrome

Article Title: DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

Authors: Anne Skakkebæk, Morten Muhlig Nielsen, Christian Trolle, Søren Vang, Henrik Hornshøj, Jakob Hedegaard, Mikkel Wallentin, Anders Bojesen, Jens Michael Hertz, Jens Fedder, John Rosendahl Østergaard, Jakob Skou Pedersen, and Claus Højbjerg Gravholt

Date of Publication: September 13, 2018

“Recently, a few studies have provided evidence that KS may be associated with widespread changes in the methylome of both blood and brain tissue. These genome-wide alterations in DNA methylation may play a role in the biological mechanisms underlying the clinical KS phenotype by affecting chromatin structure and gene expression and thereby potentially be responsible for the development of phenotypical traits and diseases.
Interestingly, alterations of the trancriptome in blood, brain tissue and testis tissue in KS have also been demonstrated, thereby supporting the hypothesis that sex chromosomes may regulate gene expression throughout the genome.”

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2018-11-20T10:49:30-04:00Categories: 47,XXY (Klinefelter)|

Anxiety and Depression in Klinefelter Syndrome: The Impact of Personality and Social Engagement

Article Title: Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement

Authors: Anne Skakkebæk, Philip J. Moore, Anders Degn Pedersen, Anders Bojesen, Maria Krarup Kristensen, Jens Fedder, Jens Michael Hertz, John R. Østergaard, Mikkel Wallentin, and Claus Højbjerg Gravholt

Date of Publication: November 9, 2018

“KS patients experienced more anxiety and depression symptoms than control participants. Neuroticism was the strongest and most consistent mediator between KS and both anxiety and depression symptoms. This research suggests that neuroticism may play a central role in attention switching, anxiety and depression among patients with Klinefelter syndrome. The central role of neuroticism suggests that it may be used to help identify and treat KS patients at particularly high-risk for attention-switching deficits, anxiety and depression.”

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2018-11-10T15:08:03-04:00Categories: 47,XXY (Klinefelter)|

Testosterone Early Use Research Study – Tartaglia, 2018

Article Title: Testosterone in Infants with XXY

Authors: Nicole Tartaglia, Shideh Majidi, and Shanlee Davis

Date of Publication: 2018

“This study aims to address the question of whether exogenous testosterone during the expected mini-puberty period of infancy in boys with KS has beneficial short-term effects on body composition and development.”

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2018-10-30T12:51:15-04:00Categories: 47,XXY (Klinefelter)|

Testosterone Early Use – Paduch, 2018

Article Title: Klinefelter Syndrome. The Effects of Early Androgen Therapy on Competence and Behavioral Phenotype

Authors: Ryan Flannigan, MD, Premal Patel, MD, and Darius A. Paduch, MD, PhD

Date of Publication: October 2018

“Our findings indicate that early androgen supplementation in children with KS combined with specific educational, family, and social support improves behavioral functioning. The optimal timing of hormonal therapy might require prospective studies, but based on our data and review of the literature, the benefit of early hormonal and therapeutic intervention in KS is very encouraging.”

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2018-10-30T12:57:38-04:00Categories: 47,XXY (Klinefelter)|

Testosterone Early Use – Ross, Davis, 2016

Article Title: Oxandrolone yields short-term benefits in treating Klinefelter’s syndrome

Authors: S.M. Davis, M. Cox-Martin, M. Bardsley, K. Kowal, P.S. Zeitler, and J.L. Ross

Date of Publication: November 14, 2016

” ‘The result of a 2-year, double blind, placebo-controlled trial of oxandrolone in boys with Klinefelter’s syndrome yields modest benefits in some cardiometabolic markers, including percent body fat SDS and fasting triglycerides; however, oxandrolone notably decreased HDL cholesterol and results in mild bone age advancement,’ the researchers wrote. ‘Overall, the short-term cardiometabolic effects of oxandrolone in prepubertal boys with Klinefelter’s syndrome are beneficial; however, additional studies are needed to understand the effect of oxandrolone on long-term cardiometabolic health.’ ”

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2018-10-30T12:56:35-04:00Categories: 47,XXY (Klinefelter)|

Testosterone Early Use – Tartaglia, Rogol, 2010

Article Title: Considerations for Androgen Therapy in Children and Adolescents with Klinefelter Syndrome (47, XXY)

Authors: Nicole Tartaglia MD and Alan Rogol, MD, PhD

Date of Publication: 2010

“Boys with the Klinefelter syndrome may be sub-sufficient in androgen activity and require replacement therapy. That is controversial for the ‘mini’-puberty during the first few months of life. Whether androgen therapy will be helpful to boys between “mini” puberty and adolescence is being studied with the weak androgen, oxandrolone. Replacement starting in mid-puberty is required for most males with KS and important for the developmental of secondary sexual characteristics, and to permit the normal accrual of muscle mass, bone mineral content, adult regional distribution of body fat. Secondary goals of psychosocial development and both positive or negative behavioral effects of testosterone in KS need further study.”

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2018-10-30T12:58:43-04:00Categories: 47,XXY (Klinefelter)|

Testosterone Early Use – Ross, 2005

Article Title: Early Androgen Deficiency in Infants and Young Boys with 47,XXY Klinefelter Syndrome

Authors: Judith L. Ross, Carole Samango-Sprouse, Najiba Lahlou, Karen Kowal, Frederick F. Elder, and Andrew Zinn

Date of Publication: August 3, 2005

“The neonatal surge in testosterone was attenuated in our KS population. Thus, infants and young boys with KS have evidence of early testicular failure. The etiology of this failure and the clinical role of early androgen replacement require further study.”

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2018-10-30T12:59:47-04:00Categories: 47,XXY (Klinefelter)|