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AXYS - The Association for X&Y Chromosome Variations
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Management of Klinefelter syndrome during transition

Article Title: Management of Klinefelter syndrome during transition

Authors: I. Gies, D. Unuane, B. Velkeniers, J. De Schepper

Date of Publication: May 2014

“Medical treatment during transition into adulthood is focused on fertility preservation and testosterone replacement therapy in the case of hypo-androgenism, and alleviation of current or future consequences of testicular fibrosis. However, more research is needed to determine the need for pro-active testosterone treatment in adolescence, as well as the conditions for an optimal testosterone replacement and sperm retrieval in adolescents and young men with KS. Furthermore, screening for associated diseases such as metabolic syndrome, autoimmune diseases, thyroid dysfunction, and malignancies is warranted during this period of life. The practical medical management during transition and, more specifically, the role of the endocrinologist are discussed in this article.”

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2018-08-25T16:41:11-04:00Categories: 47,XXY (Klinefelter)|

Vulnerability for autism traits in boys & men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibility

Article Title: Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibility

Authors: Sophie van Rijn, Marit Bierman, Hilgo Bruining, Hanna Swaab

Date of Publication: August 11, 2012

“Our findings suggest that KS can be associated with dysfunctions in mental flexibility, and that individuals with more mental flexibility problems also have more autism traits. This insight is relevant for diagnosis, prevention and treatment of severe problems in individuals with KS. Implications also extend beyond this specific syndrome. As executive dysfunctions in KS have also been linked to ADHD symptoms and thought disorder, this could be a shared mechanism contributing to overlap in symptoms and comorbidity between different psychiatric conditions.”

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2018-08-25T16:50:06-04:00Categories: 47,XXY (Klinefelter)|

Disorders of Executive Functions – Civil and Criminal Law Applications

Article Title: Disorders of Executive Functions – Civil and Criminal Law Applications (excerpts from the book)

Authors: Harold Hall, PhD and Robert Sbordone, PhD

Date of Publication: 1993

“Law and neuropsychology of executive functions will be increasingly intertwined as findings are applied to forensic settings and situations. In instances where executive impairment is suspected, this book will assist the forensic evaluator to demonstrate the relationship between frontal lobe impairment and criminal/civil behavior.”

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2018-10-16T11:03:32-04:00Categories: All Variations|

The social brain in psychiatric and neurological disorders

Article Title: The social brain in psychiatric and neurological disorders

Authors: Daniel Kennedy and Ralph Adolphs

Date of Publication: October 6, 2012

“Psychiatric and neurological disorders have historically provided key insights into the structure-function relationships that subserve human social cognition and behavior, informing the concept of the ‘social brain’. In this review, we take stock of the current status of this concept, retaining a focus on disorders that impact social behavior.”

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2019-03-23T16:56:35-04:00Categories: All Variations|

Unique – XYY: Understanding Chromosome Disorders

Article Title: Unique – XYY

Authors: Unique – Rare Chromosome Disorder Support Group

Date of Publication: 2006

“Approximately 1 boy in 1000 has XYY chromosomes. In the cells of their body, instead of 46 chromosomes including one X and one Y chromosome, they have one X and two Y chromosomes, making 47 in all. The impact of the extra Y chromosome is extremely variable. The great majority of boys and men with an extra Y chromosome are never aware of it, because they do not have symptoms that lead to a diagnosis. Only a small fraction of boys and men with XYY are ever diagnosed: recent estimates suggest 2.5% in the United Kingdom and 20% in Denmark.

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2018-09-06T10:48:52-04:00Categories: 47,XYY|

Executive dysfunction and the relation with behavioral problems in children with 47,XXY and 47,XXX

Article Title: Executive dysfunction and the relation with behavioral problems in children with 47,XXY and 47,XXX

Authors: Sophie van Rijn and Hanna Swaab

Date of Publcation: February 12, 2015

“These findings suggest that executive dysfunction may be part of the phenotype of children with an extra X chromosome, impacting the ability to function adequately in everyday life. Furthermore, children with impairments in inhibition may have more problems in regulating their thinking, emotions and behavior.”

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2018-08-27T14:30:32-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter)|

Depression Common in Borderline Testosterone

Article Title: 50 Shades of Gray: Depression Common in Borderline Testosterone

Authors: Miriam E. Tucker

Date of Publication: March 07, 2015

“SAN DIEGO, California — More than half of men referred for borderline low testosterone levels have depressive symptoms or overt depression, a new study finds.

The results were presented on March 6 here at the annual meeting of the Endocrine Society, ENDO 2015, by Michael S Irwig, MD, associate professor of medicine and director of the Center for Andrology in the Division of Endocrinology, George Washington University, Washington, DC.”

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2018-09-25T10:57:17-04:00Categories: 47,XXY (Klinefelter)|

Brain and behavior in 48,XXYY syndrome

Article Title: Brain and behavior in 48, XXYY syndrome

Authors: Alli P. Hanley, Jonathan D. Blumenthal, Nancy Raitano Lee, Eva H. Baker, Liv S. Clasen, Jay N. Giedd

Date of Publication: April 15, 2015

“The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. To discern the neuroanatomical phenotype of the syndrome, we conducted quantitative and qualitative analyses on MRI brain scans from 25 males with XXYY and 92 age and SES matched typically developing XY males. Quantitatively, males in the XXYY group had smaller gray and white matter volumes of the frontal and temporal lobes. Conversely, both gray and white matter volumes of the parietal lobe as well as lateral ventricular volume were larger in the XXYY group. Qualitatively, males in the XXYY group had a higher incidence of colpocephaly (84% vs. 34%, p ≤ 0.001), white matter lesions (25% vs. 5%, p = 0.007), and thin posterior body of the corpus callosum (28% vs. 3%, p = 0.001). The specificity of these findings may shed light on the role of the X and Y chromosomes in typical and atypical brain development and help provide direction for future studies of brain–behavior relationships in males with XXYY syndrome.”

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2020-08-07T15:11:36-04:00Categories: 48,XXYY|

Considerations for androgen therapy in children and adolescents with Klinefelter syndrome (47, XXY)

Article Title: Considerations for Androgen Therapy in Children and Adolescents with Klinefelter Syndrome (47, XXY)

Authors: Alan Rogol and Nicole Tartaglia

Date of Publication: December 2010

“The goals of androgen therapy for adolescents are to promote linear growth and secondary sexual characteristics, at the same time as to permit the normal accrual of muscle mass, bone mineral content and the adult regional distribution of body fat. Secondary goals are mainly in the psychosocial sphere, in which pubertally delayed boys feel that they look too young, are not considered a ‘peer’ in their age group and have difficulty competing in athletic endeavors. Puberty often starts normally in adolescents with KS corresponding to the peer group with genital enlargement and pubic hair growth. The testes start to enlarge, but rarely expand beyond 6 mL, leaving a discordance between the degree of sexual development and the size of the testes. Androgen therapy is considered mainly supplemental and one usually begins with the long acting esters, testosterone enanthate or cypionate because the other forms patches and gels–are metered for full male replacement. The dose of testosterone is escalated until the lower range of the adult dose is reached and then a choice among the various forms can be made. Treatment-emergent adverse events often represent the pharmacodynamic effects of an androgen oily skin and acne, but as the dose is escalated more effects may be noted in the behavioral sphere, especially in adolescents with Klinefelter syndrome compared to those who receive replacement therapy with testosterone for other purposes, for example, constitutional delay of growth and puberty.”

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2018-08-27T14:55:29-04:00Categories: 47,XXY (Klinefelter)|

Cardiovascular Abnormalities in Klinefelter Syndrome

Article Title: Cardiovascular abnormalities in Klinefelter syndrome

Authors: D. Pasquali, M. Arcopinto, A. Renzullo, M. Rotondi, G. Accardo, A. Salzano, D. Esposito, L. Saldamarco, A.M. Isidori, A.M. Marra, A. Ruvolo, R. Napoli, E. Bossone, A. Lenzi, R.R. Baliga, L. Saccà, A. Cittadini

Date of Publication: October 23, 2012

“Several epidemiological studies have demonstrated an increased mortality from cardiovascular causes in patients with Klinefelter Syndrome (KS). Little information is available about the nature of the underlying cardiovascular abnormalities. Aim of the study was to investigate exercise performance, left ventricular architecture and function, vascular reactivity, and carotid intima-media thickness in a group of patients with KS.”

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2018-08-27T15:06:14-04:00Categories: 47,XXY (Klinefelter)|
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