Diagnosis and management of the adolescent boy with Klinefelter syndrome

Abstract

Klinefelter syndrome is the most common sex chromosome disorder, affecting approximately 1/500 to 1/1000 males. The condition results when one or more extra X chromosomes are present in the cells of XY fetuses. Although the clinical presentation is variable, all males with Klinefelter syndrome demonstrate hypogonadism, impaired spermatogenesis, and androgen deficiency. Treatment options include testosterone replacement for correction of the androgen deficiency and tailoring of school curricula to address specific areas of learning difficulties. Adolescence can be a challenging time for any child, but for boys with Klinefelter syndrome who receive proper guidance the transition through puberty should not be a time for undue anxiety, Most boys with Klinefelter syndrome do not differ vastly from their peers. Several manifestations of the syndrome, however, should be monitored during adolescence and require the primary care physician's attention.