Social, Emotional, and Behavioral Functioning in Adolescents With Klinefelter Syndrome

Klinefelter syndrome (KS) is a common genetic condition in males associated with an extra X chromosome (i.e., 47,XXY). Individuals with KS often experience androgen insufficiency and tall stature and are at increased risk for depression, anxiety, and social challenges. This cross-sectional study investigates social and emotional functions in 52 boys with KS and 62 typically developing (TD) boys, aged 8 to 13 years.

Self-report measures of anxiety, depression, and behavior and parent-report measures of social functioning and behavior were completed. In primary analyses, linear regression was used to test the effect of group (KS, TD) on standardized scores derived from widely used rating scales. In secondary analyses, we explored the influence of pubertal status on these scores and concordance between self- and parent ratings.

Our results indicate that boys with KS exhibit significantly increased anxiety, depression, and social difficulties relative to TD peers. Among participants with KS, peripubertal boys generally experienced more difficulties in aspects of social and emotional functioning as compared to prepubertal boys. Concordance analyses revealed differences between parent- and child-reports.

These findings indicate that alterations in social, emotional, and behavioral functions are present in boys and adolescents with KS and may be influenced by puberty.