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Social Attention, Affective Arousal and Empathy in Men with Klinefelter Syndrome (47,XXY): Evidence from Eyetracking and Skin Conductance

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.”

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2018-07-25T21:39:02-04:00Categories: 47,XXY (Klinefelter)|

Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature

Article Title: Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature

Authors: Lucia Margari, Anna Linda Lamanna, Francesco Craig, Marta Simone, Mattia Gentile

Date of Publication: January 25, 2014

“Abnormalities of the sex chromosomes (47, XXY, 47 XYY, 45,X/46,XY mosaicism) are frequently associated with Autism Spectrum Disorders (ASD), but the male predisposition to these disorders has not been clearly explained. Previously, the role of the X chromosome was considered important in the ASD mainly because autistic symptoms were detected in genetic syndromes involving X chromosome (fragile X syndrome, Rett syndrome, Klinefelter syndrome). Instead, few studies have analyzed the possible role of the Y chromosome in the ASD.”

2018-08-02T11:35:09-04:00Categories: 47,XYY|

Association of Testosterone Therapy With Mortality, Myocardial Infarction, and Stroke in Men With Low Testosterone Levels

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.

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2022-02-16T12:52:56-05:00Categories: 47,XXY (Klinefelter)|Tags: |

You Are Not Alone

Article Title: You Are Not Alone – For Parents When They Learn That Their Child Has a Disability

Author: Patricia McGill Smith

Date of Publication: October 11, 2010

“If you have recently learned that your child has a developmental delay or a disability (which may or may not be completely defined), this message may be for you. It is written from the personal perspective of a parent who has shared this experience and all that goes with it.”

2018-08-02T16:59:03-04:00Categories: All Variations|

Guidebook: FREE Spanish Translation

A Spanish-language translation of Virginia Cover’s essential guidebook, “Living with Klinefelter Syndrome (47,XXY) Trisomy X (47,XXX) and 47,XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosomes,” is available as a FREE download.

Una traducción en español del libro guía esencial de Virginia Cover, “Living with Klinefelter Syndrome (47,XXY) Trisomy X (47,XXX) and 47,XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosomes,” está disponible como una descarga gratuita.

CLICK AQUÍ PARA DESCARGAR LA TRADUCCIÓN ESPAÑOLA GRATIS

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2018-08-02T17:03:26-04:00Categories: All Variations|

Exercising the Mind to Treat Attention Deficits

Article Title: Exercising the Mind to Treat Attention Deficits

Author: Daniel Goleman

Date of Publication: May 12, 2014

“Now a growing stream of research suggests that strengthening this mental muscle, usually with exercises in so-called mindfulness, may help children and adults cope with attention deficit hyperactivity disorder and its adult equivalent, attention deficit disorder.”

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2018-08-02T17:15:46-04:00Categories: All Variations|

Klinefelter’s Syndrome (Karyotype 47,XXY) and Schizophrenia-spectrum Pathology

Article Title: Klinefelter’s syndrome (karyotype 47, XXY) and schizophrenia-spectrum pathology

Authors: Sophie van Rijn, MSc; André Aleman, PhD; Hanna Swaab, PhD; and René Kahn, PhD, MD

Date of Publication: November 2006

“Klinefelter’s syndrome, characterised by a 47, XXY chromosomal pattern, has largely been associated with physical abnormalities. Here, we report high levels of schizophrenia-spectrum pathology in 32 men with this syndrome in comparison with 26 healthy controls. This may have implications for treatment of Klinefelter’s syndrome and suggests that the X chromosome may be involved in the aetiology of schizophrenia.”

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2018-08-02T17:25:38-04:00Categories: 47,XXY (Klinefelter)|

When to Ask Male Adolescents to Provide Semen Sample for Fertility Preservation?

Article Title: When to ask male adolescents to provide semen sample for fertility preservation?

Authors: Peter N. Schlegel et al

Date of Publication: March 2014

“It is appropriate to consider a request for semen specimens by masturbation from teenagers at one year and six months after the onset of puberty; the onset age of puberty plus 1.5 years is an important predictor of ejaculation and sample collection for cryopreservation.”

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2023-01-06T12:12:57-05:00Categories: 47,XXY (Klinefelter)|Tags: |

Genetic Evaluation of Male Infertility

Article Title: Genetic evaluation of male infertility

Author: Matthew S. Wosnitzer

Date of Publication: March 2014

“Men with severe oligospermia (<5 million sperm/mL ejaculate fluid) or azoospermia should receive genetic testing to clarify etiology of male infertility prior to treatment. Categorization by obstructive azoospermia (OA) or non-obstructive azoospermia (NOA) is critical since genetic testing differs for the former with normal testicular function, testicular volume (~20 mL), and follicle-stimulating hormone (FSH) (1-8 IU/mL) when compared to the latter with small, soft testes and increased FSH.”

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2020-03-16T12:54:09-04:00Categories: 47,XXY (Klinefelter)|Tags: |

Medical Treatment of Male Infertility

Article Title: Medical treatment of male infertility

Authors: Ali A. Dabaja, Peter N. Schlegel

Date of Publication: March 2014

The majority of male infertility is idiopathic. However, there are multiple known causes of male infertility, and some of these causes can be treated medically with high success rates. In cases of idiopathic or genetic causes of male infertility, medical management is typically empirical; in most instances medical therapy represents off-label use that is not specifically approved by the FDA. Understanding the hypothalamic-pituitary-gonadal (HPG) axis and the effect of estrogen excess is critical for the assessment and treatment of male infertility.”

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2020-03-16T12:56:36-04:00Categories: 47,XXY (Klinefelter)|Tags: |
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