47,XXY (Klinefelter) Archives - Page 9 of 20 - The Association for X and Y Chromosome Variations

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.”

Rick Frith2019-12-10T15:12:59-05:00Categories: 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.”

Rick Frith2019-10-30T15:01:28-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, Other Variations|

Testosterone treatment and association with thrombin generation and coagulation inhibition in KS

Article Title: Testosterone treatment and association with thrombin generation and coagulation inhibition in Klinefelter syndrome: A cross-sectional study

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

Date of Publication: August 19, 2019

“In this cross-sectional study thrombin generation in men with KS was inversely associated with testosterone and androgen action. T-KS [testosterone treated Klinefelter syndrome] expressed a less pro-coagulant thrombin generation profile compared with U-KS [untreated Klinefelter syndrome]. Whether testosterone treatment in KS affects thrombosis risk in KS needs to be evaluated from longitudinal studies.”

Rick Frith2022-02-16T12:46:27-05:00Categories: 47,XXY (Klinefelter)|Tags: Testosterone treatment|

A placebo-controlled randomized study with testosterone in Klinefelter Syndrome

Article Title: A placebo-controlled randomized study with testosterone in Klinefelter syndrome: beneficial effects on body composition

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

Date of Publication: August 7, 2019

“Testosterone treatment in adult males with KS for 6 months leads to favorable changes in body composition with reductions in fat mass, including abdominal fat mass, but does not change measures of glucose homeostasis.”

Rick Frith2022-02-16T12:45:51-05:00Categories: 47,XXY (Klinefelter)|Tags: Testosterone treatment|

Emotion regulation in adults with Klinefelter syndrome (47,XXY)

Article Title: Emotion regulation in adults with Klinefelter syndrome (47,XXY): Neurocognitive underpinnings and associations with mental health problems

Authors: Sophie van Rijn and Hanna Swaab

Date of Publication: October 8, 2019

This paper is from ACRC member and AXYS Family Conference presenter Dr. Sophie van Rijn. While only 26 men participated in this study and the results are from a self-reported questionnaire, this paper shines a light on issues commonly faced by adults with 47,XXY.

The aim of this study was to evaluate if language and executive functioning deficits in individuals with 47,XXY contribute to emotion regulation problems. Results: Atypical emotion regulation strategies were found in the XXY group, with increased expression of emotions (69%), avoiding (65%), distraction seeking (54%), and passive coping (54%). More difficulties in mental flexibility and attention regulation, and speeded responding were associated with more pronounced emotion expression (emotional outbursts). Emotion regulation problems were associated with symptoms of anxiety, depression, thought problems, and hostility.

Conclusion: This study has identified emotion regulation as a potential target for treatment and intervention, with a specific focus on executive functions in the management of emotions in individuals with 47,XXY.

Rick Frith2019-10-10T16:02:50-04:00Categories: 47,XXY (Klinefelter)|

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,XXY, 47,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.

Rick Frith2019-10-10T15:53:37-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

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.

Rick Frith2019-07-31T12:29:30-04:00Categories: 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.”

Rick Frith2019-07-19T14:42:12-04:00Categories: 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.”

Rick Frith2022-02-16T12:45:23-05:00Categories: 47,XXY (Klinefelter)|Tags: Early Testosterone Use, Testosterone treatment|

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.”

Rick Frith2019-04-30T09:29:50-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 48,XXXY, 48,XXYY|