Klinefelter syndrome: the need for early identification and treatment

A 14-year-old boy presented with severe academic difficulties, emotional disturbance, borderline mental retardation, tall stature, delayed sexual development, small testes, and gynecomastia. Chromosomal analysis revealed an additional X chromosome compatible with the diagnosis of 47, XXY Klinefelter Syndrome. This case retrospectively follows the progression of learning and behavioral problems occurring in the primary grades prior to the diagnosis of Klinefelter Syndrome and reports the effects of psychiatric treatment, modified educational placement, testosterone supplementation, and corrective surgery in adolescence. The early identification of Klinefelter Syndrome is vital to the XXY male in that many of the developmental, behavioral and emotional problems associated with an additional X chromosome are amenable to treatment.