Mouse model for men with klinefelter syndrome: A multifaceted fit for a complex disorder

Abstract

41XXY mouse models share many characteristics of the human 47XXY Klinefelter syndrome (KS). This manuscript discusses the relative role of androgen deficiency and X chromosome genes resulting in the XXY mouse phenotype. The similarities in phenotype between 47XXY men and 41XXY mice suggest that the clinical manifestations in XXY men may be because of gene-dosage effect from genes that escape X inactivation in mouse. Conclusion: The 41XXY mouse is an excellent model for KS. © 2011 The Author(s)/Acta Pædiatrica © 2011 Foundation Acta Pædiatrica.