47,XXY (Klinefelter)

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Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk

Article Title: Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk

Authors: Gravholt, Chang, Christiansen, Bojesen, Juul, Münster

Date of Publication: December 11, 2019

“Klinefelter syndrome (KS), 47,XXY, can be viewed as a disease model for investigating the risk of thrombosis in male hypogonadism and the subsequent risk related to testosterone treatment. We describe rates of thrombotic risk factors, thrombosis and thrombosis mortality in KS and the association with testosterone treatment.”

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2020-02-05T12:41:10-05:00Categories: 47,XXY (Klinefelter)|

Hypogonadotropic Hypogonadism, Delayed Puberty and Risk for Neurodevelopmental Disorders

Article Title: Hypogonadotropic Hypogonadism, Delayed Puberty and Risk for Neurodevelopmental Disorders

Authors: Vide Ohlsson Gotby, Olle Söder, Louise Frisén, Eva Serlachius, Sven Bölte, Catarina Almqvist, Henrik Larsson, Paul Lichtenstein, Kristiina Tammimies

Date of Publication: November 12, 2019

“This is the first study to demonstrate a significant association between HH (Hypogonadotropic Hypogonadism), delayed puberty and NDDs (neurodevelopmental disorders) in a population-based cohort. Clinicians should be aware of the overlap between these disorders. Further studies should explore the mechanisms behind these associations.”

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2020-01-14T14:08:45-05:00Categories: 47,XXY (Klinefelter)|

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.”

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2019-12-10T15:12:59-05:00Categories: 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.”

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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.”

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2019-10-30T14:46:22-04:00Categories: 47,XXY (Klinefelter)|

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.”

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2019-10-30T14:12:43-04:00Categories: 47,XXY (Klinefelter)|

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.

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2019-10-10T16:02:50-04:00Categories: 47,XXY (Klinefelter)|

Tina Hanif’s Story

When I got the in utero diagnosis of my son’s XXY in 1995, I had feelings of despair, confusion, frustration, and sadness. My husband and I went to the public library in Manhattan to explore KS information, per the geneticist’s recommendation. We were traumatized by the photographs and misinformation.

Dr. Adler, my OB/GYN was very consoling and empathetic. He gave me Melissa Aylstock’s information and told me she was fighting for her son and other KS kids through KS & Associates, the organization she founded.

Melissa was sweet, kind, concerned and very responsive to my plea for help!  Back then it was ‘long distance’ phone calls to California from NJ. We were on the phone for hours. Melissa sent me an overnight package with photographs of her son, whom she had self-diagnosed, along with photos of other KS guys. They looked NOTHING even close to the pictures we had seen at the library. In fact, they were handsome guys with no physical signs of anything unusual.

I had the good fortune of meeting Melissa and her son at the 1995 KS&A conference. A couple dozen people attended that event. I witnessed the growth of AXYS, (KS&A was renamed AXYS in 2014) when I attended the 2019 conference with nearly 400 participants: medical professionals, parents, and individuals with X and Y variations, who traveled from all over the US, South America and even Europe to attend. Attending the conference was not only nostalgic for me as I reflected back on 1995, but also a sign of hope that awareness, support and education are on the rise.

I raised my son alone, well, along with a few good nannies and sitters. My son is a smart, handsome, caring, kind, person with drive and passion.  As my son struggles with KS related neurocognitive issues, I continue to look for answers while guiding him along the way to independence.

My involvement with AXYS is driven by not only my need to help others, but a moral obligation to do like Melissa did: sincerely give back to others, to give hope to parents not sure of the outcome, listen and empathize with families, provide references or referrals when needed and most of all, to help spread awareness, support and education about X and Y variations.

Tina Hanif
Leader of the Florida Support Group

2019-08-29T13:03:36-04:00Categories: 47,XXY (Klinefelter), All Variations|Tags: |

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,XXY47,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.

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2019-10-10T15:53:37-04:00Categories: 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.

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