47,XXY (Klinefelter)

/47,XXY (Klinefelter)

Salivary Testosterone in Relation to Social Cognition and Social Anxiety in Children and Adolescents with 47,XXY (Klinefelter Syndrome)

Article Title: Salivary testosterone in relation to social cognition and social anxiety in children and adolescents with 47,XXY (Klinefelter syndrome)

Author: Sophie van Rijn

Date of Publication: July 23, 2018

“Within the 47,XXY group, lower levels of salivary testosterone were significantly associated with higher levels of social anxiety. The correlation was strong, and independent of age and pubertal development. However, salivary levels of testosterone were uncorrelated to social cognitive skills.”

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2018-07-28T13:58:01+00:00Categories: 47,XXY (Klinefelter)|

Oxandrolone Treatment Effects on Motor Function, Cognition and Behavior

Article Title: Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome

Authors: Judith L. Ross, Nicole Tartaglia, Shanlee Davis, Allan L. Reiss, et al

Date of Publication: June 2017

“This double-blind, randomized trial demonstrates that 24 months of childhood low-dose androgen treatment in boys with Klinefelter syndrome benefited 1 of 5 primary endpoints (visual-motor function). Secondary analyses demonstrated positive effects of androgen on aspects of psychosocial function (anxiety, depression, social problems), without significant effects on cognitive function, or hyperactive or aggressive behaviors.”

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2018-07-28T13:48:44+00:00Categories: 47,XXY (Klinefelter)|

Klinefelter Syndome – Integrating Genetics, Neuropsychology, and Endocrinology

Article Title: Klinefelter syndrome – integrating genetics, neuropsychology and endocrinology

Authors: Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore and Anne Skakkebæk

Date of Publication: February 9, 2018

“Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role. For example, recent developments in genetics and genomics point to a fundamental change in our understanding of KS, with global epigenetic and RNA expression changes playing a central role for the phenotype.”

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2018-09-06T11:29:35+00:00Categories: 47,XXY (Klinefelter)|

New Oral Testosterone Drug

A group of people representing AXYS and the Klinefelter Syndrome community traveled to Washington,
DC in early January 2018 to provide public comments at an FDA hearing related to the approval of a new
oral testosterone drug called Jatenzo.

The Clarus drug company has developed this oral pill as an alternative for men that require testosterone
replacement therapy (TRT). Currently the only options for TRT involve the use of gels, patches, injections
or pellet implants. All of these options have different challenges and difficulties that can cause some
men to become frustrated and stop following their recommended replacement plan. This can lead to
multiple physical and emotional difficulties for some KS individuals. We believe an oral alternative would
be easier for many people and would help them start and continue their TRT programs.

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2018-02-22T11:14:12+00:00Categories: 47,XXY (Klinefelter)|

Quality of Life in Men with Klinefelter Syndrome: The Impact of Genotype, Health, Socioeconomics, and Sexual Function

Article Title: Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function

Authors: Anne Skakkebæk, MD, PhD, Philip J. Moore, MS, Simon Chang, MD, Jens Fedder, MD, PhD, and Claus H. Gravholt, MD, DMSc

Date of Publication: July 2017

“…relatively little attention has been paid to QoL in men with KS, or the factors that may determine it. In two studies to date, boys and men with KS were found to have a lower QoL than non-KS males in population-based samples. KS phenotype severity was also negatively associated with QoL among boys. In a third study, KS status was correlated with lower psychosocial well-being, which was associated with lower levels of employment and social support, and greater disease severity.”

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2018-09-08T20:45:22+00:00Categories: 47,XXY (Klinefelter)|

The Role of Genes, Intelligence, Personality, and Social Engagement in Cognitive Performance in Klinefelter Syndrome

Article Title: The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

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

Date of Publication: December 2016

“The determinants of cognitive deficits among individuals with Klinefelter syndrome (KS) are not well understood. This study was conducted to assess the impact of general intelligence, personality, and social engagement on cognitive performance among patients with KS and a group of controls matched for age and years of education.”

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2018-09-09T10:06:45+00:00Categories: 47,XXY (Klinefelter)|

XXY Update – Fall, 2017


In case you have not had a chance to visit the AXYS website lately, several new research papers have been added in the library that you may want to review and also share with your health care providers and others. Two of these articles involve research by Dr. Claus Gravholt and his team at the Department of Endocrinology and Internal Medicine at Aarhus University Hospital in Denmark. This multidisciplinary clinic specializes in treating XXY individuals over the age of 15 and is one of the few clinics in the world that has that distinction. They see more than 400 adult patients with KS and have published a number of excellent research papers in the past based on their experiences.

Their latest publications focus on cognitive performance and quality of life issues associated with KS adults and they bring out many important points, including:

    1. Adult issues related to neurocognitive challenges are complex, difficult and do not receive adequate research attention or effective care.
    2. There are very few places in the world that provide expert multidisciplinary treatment for XXY adults.
    3. Most KS adults have difficulty finding skilled, effective health care from health professionals that are aware of current research in KS.

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2017-09-05T20:08:59+00:00Categories: 47,XXY (Klinefelter)|