Klinefelter Syndrome (KS)

Klinefelter syndrome (47, XXY) is a genetic disorder that affects 1 in 500 males and is the most common sex-chromosome aneuploidy or the presence of an abnormal number of chromosomes in a cell. Typically developing boys are born with two sex chromosomes: one X chromosome and one Y chromosome. However, boys with this type of Klinefelter syndrome (47, XXY) are born with an atypical number of sex chromosomes: two X chromosomes and one Y chromosome. This condition has characteristic physical presentations along with a variety of cognitive, social, and emotional features. Males born with Klinefelter syndrome may have low testosterone and reduced muscle mass, facial hair, and body hair. Furthermore, males with Klinefelter syndrome often have language and learning problems, social and emotional impairments, executive dysfunction, attention/working memory deficits, poor concentration, low self-esteem, and so on. (Picture credit and more information regarding KS can be found here.)

Current standard treatment for this syndrome consists of testosterone replacement therapy beginning at puberty, to correct testicular insufficiency and promote a more typical pubertal process. Whether this treatment influences neural and cognitive functioning, however, is still unknown. This is why our one of a kind research project is so important.