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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)|

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.”

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2018-08-13T13:45:33-04:00Categories: 47,XXY (Klinefelter)|

Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome

Article Title: Effects of short‐course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome

Authors: Carole A. Samango‐Sprouse, Andrea L Gropman, Teresa Sadeghin, Madison Kingery, Margaret Lutz‐Armstrong, Alan D. Rogol

Date of Publication: March 1, 2011

“The aim of this investigation was to ascertain whether an early course of androgen treatment (three injections testosterone enanthate, 25 mg) could have a positive impact on any domains of neurodevelopmental function in boys with 49,XXXXY.

Our findings revealed improved function in several areas of development which had been severely delayed in boys with 49,XXXXY. Continued research is underway to expand our understanding of the relationship of androgen, brain function and behavioural outcome in boys with 49,XXXXY.”

2018-08-16T12:45:13-04:00Categories: Other Variations|Tags: |

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.”

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2018-08-17T16:39:54-04:00Categories: 47,XXY (Klinefelter), 47,XYY|

48,XXYY, 48,XXXY and 49,XXXXY Syndromes: Not Just Variants of Klinefelter Syndrome

Article Title: 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

Authors: Tartaglia, Ayari, Howell, D’Epagnier, Zeitler

Date of Publication: April 9, 2011

Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features.”

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2018-08-17T16:45:49-04:00Categories: 48,XXYY, Other Variations|Tags: |

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.

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2018-08-17T16:51:03-04:00Categories: 47,XXY (Klinefelter)|
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