Abstract

47XXY aneuploidy is the most common disorder of gender chromosomes with a prevalence of 1: 700 males. However only 1/3 cases are diagnosed due to phenotypic variability and insufficient professional awareness of the syndrome. School children with Klinefelter syndrome (KS) present with language delay, learning disabilities and behavioral / social problems. Although Klinefelter syndrome (KS) with language based learning disabilities is not uncommon, this case was unusual due to its coexistent condition of attention deficit hyperactivity disorder (ADHD) and specific higher cognitive deficits on psychoeducational profile.

Keywords: Klinefelter syndrome, language delay, learning disabilities, behavioral problems, ADHD