The structural brain correlates of cognitive deficits in adults with Klinefelter's syndrome.
BACKGROUND
Adults with Klinefelter's syndrome (KS) are known to present disturbances of language skills and delayed learning abilities.


OBJECTIVE
The aim of this study was to assess brain morphometry in KS and to correlate eventual volumetric changes with performance on neuropsychological tests.


METHODS
Patients included 18 KS adults and 20 age-matched controls.


METHODS
All participants underwent prospectively double-spin-echo brain magnetic resonance imaging and neuropsychological testing of verbal and nonverbal domains. On the axial stack of magnetic resonance imaging slices, regional brain volumes were measured either by automated segmentation (full brain, total cerebrospinal fluid, and ventricular volume) or manual drawing with help of a neuroanatomy atlas (frontal, temporal, and parietal lobes, gray matter component of the lobes, cerebellar hemispheres, and hippocampal complexes).


RESULTS
KS patients performed significantly lower than controls on language-related tasks exploring verbal processing speed and verbal executive function. They were diagnosed with significant enlargement of ventricular volume and bilateral reduction of cerebellar hemispheres. Furthermore, after separation of participants according to handedness and after correction of regional brain volumes for atrophy, a significant reduction of left temporal lobe volume was found in KS compared with controls. Ventricular volume was inversely correlated with cognitive function, whereas left temporal lobe volume was positively correlated with language-related tasks.


CONCLUSIONS
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.
Itti
E
E
Department of Radiology, Research and Education Institute, Harbor-University of California at Los Angeles Medical Center, Torranca, CA 90509, USA. eitti@wanadoo.fr
Gaw Gonzalo
I T
IT
Pawlikowska-Haddal
A
A
Boone
K B
KB
Mlikotic
A
A
Itti
L
L
Mishkin
F S
FS
Swerdloff
R S
RS
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology*; D002552:Cerebral Ventricles / Q000473:pathology; D003072:Cognition Disorders / Q000473:pathology* / Q000523:psychology*; D005260:Female; D007839:Functional Laterality / Q000502:physiology; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007713:Klinefelter Syndrome / Q000473:pathology* / Q000523:psychology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D013739:Testosterone / Q000494:pharmacology
D013739:Testosterone