Helpline: 1‑267‑338‑4262 | helpline@genetic.org
AXYS - The Association for X&Y Chromosome Variations

Help Us to Fulfill Our Mission

Helpline: 1‑267‑338‑4262 | info@genetic.org

47,XXY (Klinefelter)

AXYS Awarded $25,000 to Create Continuing Medical Education Course on XXY (Klinefelter Syndrome) in Adults

AXYS Board Chair Gary Glissman and Executive Director Carol Meerschaert accept the Kosloski Family Foundation Grant presented by TJ Torchia (Photo by Stuart Hasson Studios)

June 30, 2019 Atlanta, GA– The Association for X and Y Chromosome Variations (AXYS), dedicated to addressing the needs of those affected by one or more extra X and/or Y chromosomes, was presented a $25,000 check by TJ Torchia, son of Tony Torchia, CPA, Partner at RotenbergMeril, on behalf of the The Kosloski Family Foundation.  The generous $25,000 grant will be used to develop an online continuing medical education (CME) course to enhance physician knowledge of 47, XXY, also known as Klinefelter Syndrome (KS).

“For 30 years AXYS has worked to increase access to the multidisciplinary care that those with X and Y variations need throughout their lives,” said Carol Meerschaert, AXYS Executive Director. “This generous grant from the Kosloski Family Foundation will support AXYS’ efforts to enhance physician knowledge of the most common X and/or Y chromosome variation, with the ultimate goal of improving the quality and accessibility of medical care for adults with Klinefelter Syndrome.”

It is estimated that nearly 500,000 individuals in the US have Klinefelter Syndrome. Because of this generous support, AXYS will create a readily accessible online program to educate healthcare professionals on the diagnosis and current standards for treatment with the goal of increasing access to care for those with 47, XXY.

“The Kosloski Family Foundation offers grants for medical education,” said Fotini Allteni, director of the Kosloski Family Foundation. Tony Torchia added, “AXYS provides information and support on Klinefelter Syndrome and it was my pleasure to connect them. My son TJ was thrilled to present this check from The Kosloski Family Foundation to AXYS during their family conference.”

AXYS will work with the members of the AXYS Clinic and Research Consortium (ACRC) to develop the CME program, assuring it will meet the needs of physicians who treat adults with KS. 

About AXYS

The Association for X and Y Chromosome Variations (AXYS) is dedicated to addressing the needs of those affected by one or more extra X and/or Y chromosomes. We focus on sharing knowledge, offering support and initiating action to help improve lives of individuals and families. Learn more at genetic.org.

About the Kosloski Family Foundation

The Kosloski Family Foundation was founded in 2018 by the Estate of Helene Kosloski in honor of her beloved family. The Foundation provides support to health and human services institutions, scholarships to universities, and support for the arts.

Helene J. Kosloski was a philanthropist, respected educator and successful businesswoman.  She received her Bachelor’s degree from Boston University and began her career working for the Springfield NJ School System, where she retired as principal of the middle school.  After retiring, Helene took over the Kosloski family’s real estate business.

Helene made a huge impact in the State of New Jersey through philanthropic efforts to several charitable organizations, including Saint Barnabas Medical Center, The Seeing Eye, Felician University and Rutgers University.

Helene’s mother, Josephine Kosloski, was a lifelong source of inspiration to Helene.  Josephine started the family’s successful real estate business setting the examples for Helene of business acumen, values, and leadership. Due to her mother’s example, Helene was able to take over and manage the business successfully and thus create The Kosloski Family Foundation in honor of her mother and family.

About RotenbergMeril

RotenbergMeril is a CPA firm with offices in the NY/NJ Metropolitan Area. According to both the NJBiz Journal and New Jersey Business Magazine, they are ranked as one of the top accounting firms based in Northern New Jersey, servicing clients across the USA and worldwide. The firm is PCAOB registered and a member of both the Center for Public Company Audit Firms, the Employee Benefit Plan Audit Quality Center, and the Forensic Valuation Services (FVS) section of the American Institute of Certified Public Accountants.

RotenbergMeril has a diversified client base of closely-held businesses, emerging public companies, high net worth individuals, trusts and estates, not-for-profits, foundations and Broker Dealers. The firm has a growing roster of emerging and mid-market SEC public companies that are listed on various exchanges, including the NYSE, AMEX and Nasdaq OTC.

2019-07-31T12:29:30-04:00Categories: 47,XXY (Klinefelter)|

Management of cardiovascular complications in Klinefelter syndrome patients

Article title: Management of cardiovascular complications in Klinefelter syndrome patients

Authors: Giacomo Accardo, et al., University of Campania, Italy

Date of Publication: February 2019

“Klinefelter syndrome (KS) shows increased mortality when compared with mortality rates among the general population. Cardiovascular, hemostatic, metabolic diseases are implicated. Moreover, cardiac congenital anomalies in KS can contribute to the increase in mortality.”

Read more

2019-07-19T14:42:12-04:00Categories: 47,XXY (Klinefelter)|

Oxandrolone Treatment Results in Increased Risk of Gonadarche in Prepubertal Boys With KS (early testosterone use)

Article Title: Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome

Authors: Shanlee M. Davis, Najiba Lahlou, Matthew Cox-Martin, Karen Kowal, Philip S. Zeitler, and Judith L. Ross

Date of Publication: June 20, 2018

“Two years of Ox[androlone] treatment in prepubertal boys with KS results in an increased risk of early gonadarche, on average 2 years earlier than in [placebo]-treated boys. Ox did not affect serum concentrations of testicular hormones.”

Read more

Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

Article Title: Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

Authors: S. van Rijn, L. Stockmann, G. van Buggenhout, C. van Ravenswaaij-Arts, and H. Swaab

Date of Publication: 2014

This 2014 paper by Dr. Sophie van Rijn is an excellent study on the Theory of Mind and “the reported social behavioral difficulties in individuals with an extra X chromosome include shyness, social withdrawal, social anxiety, social immaturity, difficulties in peer relationships, social impulsivity, communication difficulties, reduced social assertiveness and difficulties with ‘being sensitive and responsive to the feelings and rights of others.”

“Individuals with an extra X chromosome are at increased  risk for autism symptoms. This study is the first to assess theory of mind and facial affect labeling in children with an extra X chromosome.”

Read more

2019-04-30T09:29:50-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 48,XXXY, 48,XXYY|

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.”

Read more

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.”

Read more

2019-02-21T11:15:50-05:00Categories: 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.”

Read more

2018-11-20T10:49:30-05:00Categories: 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.”

Read more

2018-11-10T15:08:03-05:00Categories: 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.”

Read more

Go to Top