Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings

Abstract excerpt

OBJECTIVE: Klinefelter syndrome (KS) is the most common (1/500–1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of children with KS to assess the age and presenting symptoms for diagnosis, clinical and laboratory findings, together with the presence of comorbidities. METHODS: Twenty-three KS patients were analyzed retrospectively. Age at...