Klinefelter Syndrome:

Klinefelter Syndrome is a genetic disorder that occurs in 1/500-1000 males. It is defined by the abnormal chromosome karyotype 47,XXY, and has characteristic physical and cognitive phenotypes. The phenotype is distinguished by testicular failure and childhood androgen deficiency. The neurocognitive phenotype includes impaired motor function, language-based learning difficulties, and attention/working memory deficits.

Ongoing Studies

We are currently investigating the neural mechanisms underlying cognitive dysfunctions in Klinefelter Syndrome in collaboration with scientists from Thomas Jefferson University (Principle Investigator: Judith Roth). Boys of ages 4 to 12 are tested using a battery of cognitive assessments and neuroimaging, and are followed up while they receive androgen treatment. Neuroimaging includes functional magnetic resonance imaging (fMRI) during language, motor and working memory tasks and high-resolution structural MRI.

Contact:Fumiko Hoeft: fumiko 'at' stanford 'dot' edu