Answer to Case File #3

The patient has Klinefelter Syndrome, a trisomy syndrome often due to paternal rather than maternal nondisjunction, affecting 1 in 600 to 800 male infants.

Best Diagnostic test: Chromosomal analysis

Definitions:

Klinefelter Syndrome: A specific syndrome associated with behavioral problems(immaturity, insecurity), developmental delay (speech, language, lower IQ), and physical findings (gynecomastia, hypogonadism, long limbs) caused by an extra X chromosome in boys and men.

Mental Retardation (MR): A clinically and socially important impairment of measured intelligence and adaptive behavior that is diagnosed before 18 years of age.

Boys with Klinefelter syndrome often go unidentified until puberty because of the subtleness of the clinical findings. The diagnosis should be considered for all boys(regardless of age) who have been identified as having mental retardation, or psychosocial, school, or adjustment problems.