KLINEFELTER SYNDROME IN 1993 - MULTICENTE R STUDY IN 58 PATIENTS AND REVIEW OF THE LITERATURE

A retrospective multicenter study found 58 cases of Klinefelter syndro me of which 23 (39 %) were diagnosed before puberty. Although as commo n as Down syndrome, Klinefelter syndrome is underdiagnosed and often r ecognized only in adulthood. Suggestive manifestations in infants, chi ldren, and teenagers include facial dysmorphism, micropenis, and delay ed speech and should lead to examination of the karyotype. Early recog nition of Klinefelter syndrome could be achieved by routinely measurin g the size of the testes in school-boys aged 11 to 15 years and perfor ming a karyotype in boys with a volume of less than 2 ml. Early psycho logical and educational support and testosterone replacement therapy i nitiated at onset of puberty may lead to improved social and academic outcomes.