Psychopathology in Klinefelterʼs Syndrome

Klinefelter's syndrome (K.S.) is now described as either chromatin-positive or chromatin-negative. Some cases of chromatin-negative K.S. may have tissue mosaicism, and some of the chromatin-positive cases have chromosomal configurations other than the commonly found XXY. Although a high prevalence of mental deficiency in K.S. has been established, the relationship between this abnormality and other types of psychopathology is not understood. Attempts have been made to describe a frequently found personality type associated with K.S. The most common personality traits in the patients described have been dependence and passivity. Several examples of sexual psychopathology in K.S. have been reported, but there have been no detailed case studies in the English-language literature. Two cases of pedophilia in K.S. patients are here reported in detail. Both patients had traumatic childhood experiences. The relative contribution of geneticsomatic factors and experiential factors is discussed.