Klinefelter Syndrome Comorbid with ADHD and ASD in a School Boy: a Case Report

Klinefelter Syndrome (KS) is a quite common sex chromosome aneuploidy (47, XXY) and cause of male hypergonadotropic hypogonadism. It is characterized by extreme clinical heterogeneity and variety in presentation, including infertility, hypogonadism, speech delay, metabolic anomaly, and neurocognitive and psychiatric disorders. Literature review shows that children with KS usually experienced increased risk of impairments with language learning, executive functioning, social cognition, emotion regulation. Struggles in these areas contribute to significantly higher rates of a number of neurodevelopmental and psychiatric diagnoses such as ADHD and ASD, which were diagnosed 5.6 times and 6.2 times more often in adult men with XXY compared to peers with XY respectively. Here we present a 9 years old boy who was diagnose as KS and his neurocognitive symptoms developed as he grows up.