Article Title: Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY
Authors: A.S. Herlihy, L. Gillam
Date of Publication: March 2011
International Journal of Andrology ｪ 2011 European Academy of Andrology, 1–2
A common genetic condition affecting males, Klinefelter syndrome (KS), is often described as ‘The Forgotten Syndrome’.Although the prevalence of KS has been estimated to be as high as 1 in 450 (Herlihy et al., in press.), between 50 and 70% of males are never diagnosed (Bojesen et al.,2003). Klinefelter et al., 1942 first described KS as a syndrome in males, characterized by tall stature with eunuchoidal body proportions, gynaecomastia, small testes,hypogonadism, azoospermia and increased FSH levels(Klinefelter et al., 1942). The cause of this syndrome was identified 17 years later as an additional X chromosome in males, resulting in a 47, XXY karyotype (Jacobs & Strong,1959). Since then, there have been many advances in research concerning the biomedical aspects of KS, in addition to the cognitive and neuropsychological features,providing a greater understanding of the variety of behavioural, learning and psychological difficulties that may be present (Bojesen & Gravholt, 2007).