Endocrine Abstracts

Introduction: 48, XXYY is a rare sex chromosome aneuploidy, being estimated to occur in 1:18000–1:40000 male births. Phenotypically it was considered a variant of Klinefelter syndrome (47,XXY), but currently, due to mental deficiency and behavioural characteristics associated, it’s considered to be a separated genetic condition.Case report: We report a case of a 8-year-old boy, first child of a young non-consanguineous couple, born at term. Due...