Abstract
Klinefelter syndroms(48,XXYY) syndromes are rare sex chromosome aneuploidy disorders characterized by the presence of more extra X and Y chromosomes in males. However, 48,XXYY are less studied, possibly due to its rarity. The incidence of 48,XXYY is estimated at 1:18,000–40,000 male births. While this sex chromosome aneuploidy is associated with multifarious of complex metabolic derangements, physical, psychological and psychosocial features, the clinical description of Klinefelter syndrome 48,XXYY over time has evolved to develop a greater understanding of this complex disorder. This paper reports a case of Klinefelter syndrome with chromosome karyotype 48, XXYY and abnormal glucose metabolism, which was admitted to hospital due to acute complications of diabetic ketoacidosis. Meanwhile, Our aim was to review known evidence about 48,XXYY. And what is known about the prevalence of diabetes in men with klinefelter syndroms, potential mechanisms underlying the observed metabolic phenotype.