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Clinical Pediatrics, Vol. 30, No. 3, 161-164 (1991)
DOI: 10.1177/000992289103000305

Klinefelter Syndrome: The Need for Early Identification and Treatment

Miguel W. Mandoki

Division of Child and Adolescent Psychiatry, University of Florida Health Science Center at Jacksonville, 653 West 8th Street, Jacksonville, Florida 32209

Gayla S. Sumner

Departments of Psychiatry and Pediatrics, University of Florida Health Science Center at Jacksonville

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.


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