Unusual endocrine and somatic phenotypic abnormalities in a 14-year-old boy with classic Klinefelter syndrome (47,XXY).

摘要

Klinefelter syndrome (KS) is the most common chromosomal disorder. This condition affects 1 in 500-1000 males who carry an additional X chromosome, but its prevalence is surely underestimated and diagnosis is generally delayed because of variable clinical presentations and insufficient professional awareness of the syndrome itself (1, 2). The original description of the syndrome included 9 men with gynecomastia, small testes, azoospermia, and elevated gonadotropin levels (3).