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AXYS - The Association for X&Y Chromosome Variations
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The Sexual Politics of Autism

Article Title: The Sexual Politics of Autism

Author: Virginia Hughes

Date of Publication: July 14, 2014

“Imagine you walked down the street and asked random people what autism is. What would they say? My guess: They’d talk about social skills, and the rising prevalence, and probably the vaccine nonsense. And they’d almost certainly mention that it happens to boys.

The idea that autism is a mostly male disorder is pervasive in the news, pop culture, and scientific circles. And it’s not just an academic curiosity. Last year a popular fertility clinic in Sydney, Australia, reported that about five percent of couples went through in vitro fertilization just so they could select a female embryo and thus lower the kid’s risk of developing autism.

The sex skew in autism is real: A diagnosis of autism is almost five times more common in 8-year-old boys than in 8-year-old girls, according to the latest statistics from the CDC.”

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2018-08-12T14:07:22-04:00Categories: All Variations|

What are the treatments for symptoms in Klinefelter syndrome (KS)?

Article Title: What are the treatments for symptoms in Klinefelter syndrome (KS)?

Author: NIH

Date of Publication: December 1, 2016

“It’s important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated.

The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. It is especially helpful to begin treatment by early puberty. Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. However, treatment can bring benefits at any age.

The type of treatment needed depends on the type of symptoms being treated.”

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2018-08-12T14:19:09-04:00Categories: 47,XXY (Klinefelter)|

Klinefelter Syndrome: The Commonest Form of Hypogonadism, but Often Overlooked or Untreated

Article Title: Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated

Author: Eberhard Nieschlag

Date of Publication: May 2013

“The diagnosis of KS would be less frequently missed if doctors were more aware of, and attentive to, its key manifestations, particularly the small, firm testes, erectile dysfunction, and the comorbidities mentioned above. If the diagnosis were made more often, patients would more often be able to receive early treatment, which would improve their quality of life.”

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2018-08-12T14:27:13-04:00Categories: 47,XXY (Klinefelter)|

Latest Testosterone Study Finds No Heart Attack Risk

Article Title: Latest Testosterone Study Finds No Heart Attack Risk

Author: Nancy A. Melville

Date of Publication: July 3, 2014

“In the latest addition to the ongoing debate over the safety of testosterone treatment, researchers report no significant increased heart attack risk in older men treated with an intramuscular form of the therapy.

The study, published online this week in the Annals of Pharmacotherapy, compared 6,355 Medicare beneficiaries treated with testosterone with 19,065 who were not, between January 1997 and December 2005, and showed no increased risk of myocardial infarction (MI) in the treatment group (hazard ratio [HR], 0.84; 95% confidence interval [CI], 0.69 – 1.02).”

Read more (requires free Medscape registration)

2018-09-28T10:59:51-04:00Categories: 47,XXY (Klinefelter)|

The structural brain correlates of cognitive deficits in adults with Klinefelter’s syndrome

Article Title: The structural brain correlates of cognitive deficits in adults with Klinefelter’s syndrome

Authors: E. Itti, I.T. Gaw Gonzalo, A. Pawlikowska-Haddal, K.B. Boone, A. Mlikotic, L. Itti, F.S. Mishkin, R.S. Swerdloff

Date of Publication: January 10, 2006

“This study hypothesizes that supernumerary X-chromosome and/or congenital hypogonadism provoke structural alterations in the subcortical pathways involved in language processing, thus providing a neurobiological substrate for cognitive deficits in KS.”

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2018-08-12T21:53:20-04:00Categories: 47,XXY (Klinefelter)|

Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile

Article Title: Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile

Authors: A. Skakkebæk, C.H. Gravholt, P.M. Rasmussen, A. Bojesen, J.S. Jensen, J. Fedder, P. Laurberg, J.M. Hertz, J.R. Ostergaard, A.D. Pedersen, M. Wallentin

Date of Publication: October 29, 2013

“Brain imaging in Klinefelter syndrome (47, XXY) (KS), a genetic disorder characterized by the presence of an extra X chromosome, may contribute to understanding the relationship between gene expression, brain structure, and subsequent cognitive disabilities and psychiatric disorders. We conducted the largest to date voxel-based morphometry study of 65 KS subjects and 65 controls matched for age and education and correlated these data to neuropsychological test scores. The results show that although gene dosage effect of having an extra X-chromosome may lead to large scale alterations of brain morphometry and extended cognitive disabilities. No simple correspondence links these measures.”

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2018-08-13T11:10:08-04:00Categories: 47,XXY (Klinefelter)|

Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: a review of the literature and preliminary results from a functional magnetic resonance imaging study of language

Article Title: Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: a review of the literature and preliminary results from a functional magnetic resonance imaging study of language

Authors: K. Steinman, J. Ross, S. Lai, A. Reiss, F. Hoeft

Date of Publication: 2009

“Here, we review the literature of structural and functional neural findings in KS identified by neuroimaging and present preliminary results from a functional magnetic resonance imaging study examining brain activity during a verb generation task in KS.”

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2018-08-13T11:18:28-04:00Categories: 47,XXY (Klinefelter)|

Anatomic magnetic resonance imaging of the developing child and adolescent brain and effects of genetic variation

Article Title: Anatomic magnetic resonance imaging of the developing child and adolescent brain and effects of genetic variation

Authors: J.N. Giedd, M. Stockman, C. Weddle, M. Liverpool, A. Alexander-Bloch, G.L. Wallace, N.R. Lee, F. Lalonde, R.K. Lenroot

Date of Publication: November 11, 2010

“Magnetic resonance imaging studies have begun to map effects of genetic variation on trajectories of brain development. Longitudinal studies of children and adolescents demonstrate a general pattern of childhood peaks of gray matter followed by adolescent declines, functional and structural increases in connectivity and integrative processing, and a changing balance between limbic/subcortical and frontal lobe functions, which extends well into young adulthood. Twin studies have demonstrated that genetic factors are responsible for a significant amount of variation in pediatric brain morphometry.”

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2018-08-13T11:29:19-04:00Categories: All Variations|

Puberty-related influences on brain development

Article Title: Puberty-related influences on brain development

Authors: J.N. Giedd, L.S. Clasen, R. Lenroot, D. Greenstein, G.L. Wallace, S. Ordaz, E.A. Molloy, J.D. Blumenthal, J.W. Tossell, C. Stayer, C.A. Samango-Sprouse, D. Shen, C. Davatzikos, D. Merke, G.P. Chrousos

Date of Publication: January 9, 2006

Puberty is a time of striking changes in cognition and behavior. To indirectly assess the effects of puberty-related influences on the underlying neuroanatomy of these behavioral changes we will review and synthesize neuroimaging data from typically developing children and adolescents and from those with anomalous hormone or sex chromosome profiles.”

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2018-08-13T11:45:34-04:00Categories: All Variations|

Neuroanatomical phenotype of Klinefelter syndrome in childhood: a voxel-based morphometry study

Article Title: Neuroanatomical phenotype of Klinefelter syndrome in childhood: a voxel-based morphometry study

Authors: D.M. Bryant, F. Hoeft, S. Lai, J. Lackey, D. Roeltgen, J. Ross, A.L. Reiss

Date of Publication: May 4, 2011

“These findings are indicative of a characteristic prepubertal neuroanatomical phenotype that may be associated with cognitive-behavioral features of KS. This work offers new insight into the relationships among X-chromosome gene expression, neuroanatomy, and cognitive-behavioral functions impaired in KS, including language and attention.”

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2018-08-13T13:40:29-04:00Categories: 47,XXY (Klinefelter)|
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