Article Title: Timing of Diagnosis of 47,XXY and 48,XXYY: A Survey of Parent Experiences
Authors: Jeannie Visootsak, Natalie Ayari, Susan Howell, Joash Lazarus, and Nicole Tartaglia
Date of Publication: January 15, 2013
Article Title: Klinefelter’s syndrome
Authors: Christopher H. Blevins, Michael E. Wilson
Date of Publication: December 3, 2012
A 29 year old man presented to primary care with anxiety and depression that had worsened since childhood. Further questioning revealed a history of poor school performance, poor body image, and poor self esteem. On physical examination, the patient’s height was 189 cm and he had narrow shoulders, wide hips, sparse facial hair (which he shaved once every two months), and small, firm testicles. He was found to have elevated luteinising hormone and follicular stimulating hormone concentrations, low serum concentrations of testosterone, absent sperm on semen analysis, and a karyotype of 47,XXY.
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Article Title: Cancer Incidence and Mortality in Men with Klinefelter Syndrome: A Cohort Study
Authors: Anthony J. Swerdlow, Minouk J. Schoemaker, Craig D. Higgins, Alan F. Wright, Patricia A. Jacobs
Date of Publication: August 17, 2005
Article Title: Klinefelter’s syndrome—a diagnosis mislaid for 46 years
Authors: Mithun Bhartia, Sudarshan Ramachandran, Anonymous patient
Date of Publication: December 3, 2012
The patient was initially diagnosed in 1959 at the age of 14 years, but was never informed of the diagnosis.
He experienced physical and psychological ill effects until re-diagnosis 46 years later.
Article Title: The psychological and social impact of Klinefelter’s Syndrome
Author: Marianne Morris, Sue Jackson, and Jude Hancock
Date of Publication: September 2009
Article Title: Reduced artery diameters in Klinefelter syndrome
Authors: C. Foresta, N. Caretta, P. Palego, A. Ferlin, D. Zuccarello, A. Lenzi, R. Selice
Date of Publication: April 10, 2012
“Various epidemiological studies in relatively large cohorts of patients with Klinefelter syndrome (KS) described the increased morbidity and mortality in these subjects. Our aim was to study the structure and function of arteries in different districts to investigate in these subjects possible alterations. A total of 92 patients having non-mosaic KS, diagnosed in Centre for Human Reproduction Pathology at the University of Padova, and 50 age-matched healthy male controls were studied. Klinefelter syndrome subjects and controls evaluation included complete medical history, physical examination, measurement of concentrations of the reproductive hormones, lipidic and glycidic metabolism, AR function and sensitivity, ultrasound examinations (diameters, carotid intima-media thickness and brachial flow-mediated dilation) of brachial, common carotid and common femoral artery and abdominal aorta. Klinefelter syndrome patients showed significantly reduced artery diameters in all districts evaluated.”
Article Title: FDA Panel Split on Safety of Long-Acting Testosterone
Author: Megan Brooks
Date of Publication: April 18, 2013
An advisory panel to the US Food and Drug Administration (FDA) was split today on the question of whether or not testosterone undecanoate intramuscular injection (Aveed, Endo Pharma Solutions) is a safe testosterone replacement therapy, given reports of severe post-injection reactions.
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Article Title: Representations of Klinefelter Syndrome
Author: Michael Noble
Date of Publication: May 2010
This article, published by Michael Noble of OII (Organization Intersex International), focuses on the gender identity and discusses the concept of “XXY Intersex” for some with 47,XXY.
Article Title: Social Attention, Affective Arousal and Empathy in Men with Klinefelter Syndrome (47,XXY): Evidence from Eyetracking and Skin Conductance
Authors: Sophie van Rijn, Marjolein Barendse, Stephanie van Goozen, and Hanna Swaab
Date of Publication: January 8, 2014
“Individuals with an extra X chromosome (Klinefelter syndrome) are at risk for problems in social functioning and have an increased vulnerability for autism traits. In the search for underlying mechanisms driving this increased risk, this study focused on social attention, affective arousal and empathy. Seventeen adults with XXY and 20 non-clinical controls participated in this study. Eyetracking was used to investigate social attention, as expressed in visual scanning patterns in response to the viewing of empathy evoking video clips. Skin conductance levels, reflecting affective arousal, were recorded continuously during the clips as well. Empathic skills, i.e. participants’ understanding of own and others’ emotions in response to the clips was also assessed.”
Article Title: Association of Testosterone Therapy With Mortality, Myocardial Infarction, and Stroke in Men With Low Testosterone Levels
Authors: Rebecca Vigen, Colin I. O’Donnell, Anna E. Barón, et al
Date of Publication: November 6, 2013
A November, 2013 article in JAMA pointed to increased heart risks for individuals on testosterone therapy. Since many teens and men with XXY rely on testosterone therapy, we asked Dr. Wylie Hembree, previous member of AXYS’s Board of Directors, to put this article in perspective for those we serve.
Dr. Hembree’s comments:
“Over the years, the question of safety of testosterone treatment of men has been evaluated. Appropriate diagnosis and treatment of men with testosterone has been well demonstrated in the two Endocrine Society Clinical Practice Guidelines and they have pointed out the risks as well as benefits. A few studies have demonstrated the vulnerability of older men – especially frail older men – to testosterone treatment. All of us are very careful about treatment of testosterone deficient older men, especially those with hypertension, heart disease, prostate disease and diabetes. No one should be treated with testosterone without a complete evaluation that clearly demonstrates both clinical and laboratory evidence of testosterone deficiency and carefully assesses the risks of the treatment. Careful monitoring thereafter is essential, especially in men with the above mentioned conditions and older men in general. There is no evidence that testosterone treatment is responsible for prostate cancer but in older men monitoring for prostate cancer is much more difficult.
