47,XXY (Klinefelter) Archives - Page 18 of 20 - The Association for X and Y Chromosome Variations

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.”

Rick Frith2018-08-12T14:27:13-04:00Categories: 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)

Rick Frith2018-09-28T10:59:51-04:00Categories: 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.”

Rick Frith2018-08-12T21:53:20-04:00Categories: 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.”

Rick Frith2018-08-13T11:10:08-04:00Categories: 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.”

Rick Frith2018-08-13T11:18:28-04:00Categories: 47,XXY (Klinefelter)|

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.”

Rick Frith2018-08-13T13:40:29-04:00Categories: 47,XXY (Klinefelter)|

Klinefelter’s syndrome (XXY) as a genetic model for psychotic disorders

Article Title: Klinefelter’s syndrome (XXY) as a genetic model for psychotic disorders

Authors: L.E. DeLisi, A.M. Maurizio, C. Svetina, B. Ardekani, K. Szulc, J. Nierenberg, J. Leonard, P.D. Harvey

Date of Publication: May 5, 2005

“Males with an extra-X chromosome (Klinefelter’s syndrome) frequently, although not always, have an increased prevalence of psychiatric disturbances that range from attention deficit disorder in childhood to schizophrenia or severe affective disorders during adulthood. In addition, they frequently have characteristic verbal deficits. Thus, examining brain magnetic resonance imaging (MRI) scans of these individuals may yield clues to the influence of X chromosome genes on brain structural variation corresponding to psychiatric and cognitive disorders.”

Rick Frith2018-08-13T13:45:33-04:00Categories: 47,XXY (Klinefelter)|

Testicular size and shape of 47,XYY and 47,XXY men in a double-blind, double-matched population survey

Article Title: Testicular size and shape of 47,XYY and 47,XXY men in a double-blind, double-matched population survey

Author: E. Boisen

Date of Publication: November 1979

“This paper reports the testicular size and shape of 12 men with 47,XYY, 14 men with 47,XXY, and 52 matched controls with 46,XY. The abnormal karyotypes were identified in a systematic population search for XYY and XXY men. The subjects and their matched controls were examined in a double-blind fashion. The testes of the XYY men showed no significant differences from those of their XY controls for volume or shape. This indicates that previous reports of abnormal testes in XYYs reflect selection and publication bias and do not provide an accurate description of the condition of 47,XYY men’s testicles. As expected, the testes of the XXY men were significantly smaller than those of their XY controls, and there was also a difference in shape. However, the mean size in this sample of XXYs was larger than in previous reports on Klinefelter syndrome patients, indicating that previous reports on XXYs, identified in clinics for male hypogonadism and other institutions, also suffered from selection bias.”

Rick Frith2018-08-17T16:39:54-04:00Categories: 47,XXY (Klinefelter), 47,XYY|

FDA Panel Rejects New Oral Testosterone Replacement Drug

Article Title: FDA Panel Rejects New Oral Testosterone Replacement Drug

Author: Larry Hand

Date of Publication: September 18, 2014

A combined US Food and Drug Administration (FDA) advisory committee has voted against recommending approval of oral testosterone undecanoate (TU) gel capsules as testosterone-replacement therapy (TRT).

In a joint session today of the Bone, Reproductive and Urologic Drugs Advisory Committee and the Drug Safety and Risk Management Advisory Committee, panelists voted 12 to 8, with 1 abstention, that there is insufficient evidence to conclude that the testosterone prodrug is effective. They voted 18 to 3 that the overall benefit/risk profile was not acceptable to support approval.

Rick Frith2018-08-17T16:51:03-04:00Categories: 47,XXY (Klinefelter)|

The Learning Needs of Boys With KS – Information for Teachers & Parents

Article Title: The Learning Needs of Boys With KS – Information for Teachers & Parents

Authors: Paul Collingridge, Klinefelter’s Syndrome Association (UK)

Date of Publication: 2004

“Recent years have seen the tide turning in the ways that boys with Klinefelter’s Syndrome (KS) have settled down at school, this is reflected in the statistics of the Klinefelter’s Syndrome Association survey which pointed out that whilst virtually no adults had attended special schools as children, the figure had risen to around 1 in 3 by 1999. There is still a long way to go; many parents still feel the frustration of battling out for help against cash-strapped education authorities, and many teachers long for insight into the minds of boys with complex needs.”

Rick Frith2018-09-06T12:44:12-04:00Categories: 47,XXY (Klinefelter)|