The Structural Brain Correlates of Cognitive Deficits in Adults with Klinefelter’s Syndrome

Itti, Emmanuel; Gonzalo, Irene T. Gaw; Pawlikowska-Haddal, Anna; Boone, Kyle Brauer; Mlikotic, Anton; Itti, Laurent; Mishkin, Fred S.; Swerdloff, Ronald S.

doi:10.1210/jc.2005-1596

Cited by 77 publications

(75 citation statements)

References 19 publications

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“…A lower volume of the gray matter of the frontal and temporal lobe, as well as of cerebellar hemispheres, was reported in comparison to cytogenetically normal males [DeLisi et al, 2005;Giedd et al, 2007]. Reduced amygdala, hippocampal, superior temporal gyrus and caudate volumes were also reported by some authors [Patwardhan et al, 2000;Itti et al, 2006]. However, some of these findings were not confirmed by others [Rose et al, 2004].…”

Section: The Cognitive Phenotypementioning

confidence: 90%

Klinefelter’s Syndrome: A Clinical and Therapeutical Update

Forti

Corona

Vignozzi

et al. 2010

Sex Dev

105

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The prevalence of the Klinefelter’s syndrome, ranging between 1/500 and 1/1,000 in the general male population, rises up to 3–4% among infertile males and to 10–12% in azoospermic patients. Due to the paucity of symptoms, only 10% of Klinefelter patients are diagnosed prepubertally. The clinical spectrum of the phenotype of adult Klinefelter patients is very broad and ranges from clinically overt hypogonadism to normally virilized males. The diagnosis is usually made during the evaluation of couple infertility. The only nearly constant clinical feature is the reduced testicular volume and azoospermia or, in few cases, cryptozoospermia. Due to the variability of the phenotype and also to the fact that the main symptoms of the syndrome (androgen deficiency, infertility) are in the reproductive domain, approximately two thirds of Klinefelter patients are not diagnosed during their life. Low/normal testosterone and high levels of the luteinizing hormone (LH) suggest that all Klinefelter patients have overt or compensated hypogonadism which should be treated with testosterone, starting from the peri-pubertal age. Even if no medical treatment is possible for infertility, testicular sperm for assisted reproduction techniques can be obtained by multiple testicular biopsies in experienced centers in up to 50% of subjects. Although there are no predictors for successful sperm retrieval, the birth of 101 children with normal karyotype was reported in the last 15 years. Furthermore, the genetic risk to the offspring of Klinefelter patients has recently not been found to be greater than that of patients with nonobstructive azoospermia with normal karyotype.

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Section: The Cognitive Phenotypementioning

confidence: 90%

Klinefelter’s Syndrome: A Clinical and Therapeutical Update

Forti

Corona

Vignozzi

et al. 2010

Sex Dev

105

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“…High-resolution magnetic resonance imaging has revealed significant reduction of left temporal gray matter volume in KS adults which positively correlated with language-related skills (22)(23)(24)(25). Others have reported decrease in total cerebral volume and increase in lateral ventricle volume in KS children and young adults (22).…”

Section: Motor Cognitive and Behavioral Dysfunctionmentioning

confidence: 99%

“…Because KS patients have less difficulty with nonverbal or visual-spatial tests, as well as difficulties with rapid auditory processing, investigators hypothesize that lefthemisphere dysfunction may explain these findings (15,(20)(21)(22)(23)(24)(25)(26). High-resolution magnetic resonance imaging has revealed significant reduction of left temporal gray matter volume in KS adults which positively correlated with language-related skills (22)(23)(24)(25).…”

Section: Motor Cognitive and Behavioral Dysfunctionmentioning

confidence: 99%

It's not all about the testes: medical issues in Klinefelter patients

Sokol

2012

Fertility and Sterility

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“…This condition is also associated with variable learning difficulties and behavioural disturbances [17,18]. Although a careful assessment of testicular size at the average age of conclusion of normal puberty would establish the diagnosis, about 60% of such men are never diagnosed [19].…”

Section: Sex Chromosomal Disordersmentioning

confidence: 99%

Determinants of male health: the interaction of biological and social factors

Kretser¹

2010

Asian J Androl

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This review discusses the social and biological factors that may influence male development from conception to adulthood and also underlie the development of health disorders. It will provide assistance to those who may be considering the formulation of a male health policy. It aims to emphasize that social determinants function on a biological background that is profoundly influenced by a male's genome, inherited from his parents. The importance of the male-specific reproductive disorders is emphasized, but these also affect somatic structures through the secretion of androgens secreted from the testes. In turn, the function of the cardiovascular and nervous systems can significantly influence reproductive processes such as erectile dysfunction.

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The Structural Brain Correlates of Cognitive Deficits in Adults with Klinefelter’s Syndrome

Abstract: 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.

Cited by 77 publications

References 19 publications

Klinefelter’s Syndrome: A Clinical and Therapeutical Update

Klinefelter’s Syndrome: A Clinical and Therapeutical Update

It's not all about the testes: medical issues in Klinefelter patients

Determinants of male health: the interaction of biological and social factors

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