Klinefelter syndrome (KS) is the most common sex-chromosome disorder in men. It is characterized by germ cell loss and other variable clinical features, including autoimmunity. The sex-determining region of Y(SRY)-BOX 13 (Sox13) gene is expressed in mouse spermatogonia. In addition, it has been identified as islet cell autoantigen 12 (ICA12), which is involved in the pathogenesis of autoimmune diseases, including type 1 diabetes mellitus (DM) and primary biliary cirrhosis. SOX13 expression has never been investigated in patients with KS. In this age-matched case-control study performed in 10 patients with KS and 10 controls, we found that SOX13 is significantly downregulated in peripheral blood mononuclear cells of patients with KS compared to controls. This finding might be consistent with the germ cell loss typical of patients with KS. However, the role of SOX13 in the pathogenesis of germ cell loss and humoral autoimmunity in patients with KS deserves to be further explored.

SOX13 gene down-regulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome

Cannarella R;Condorelli RA;Cimino L;Romano C;La Vignera S;Calogero AE
2020-01-01

Abstract

Klinefelter syndrome (KS) is the most common sex-chromosome disorder in men. It is characterized by germ cell loss and other variable clinical features, including autoimmunity. The sex-determining region of Y(SRY)-BOX 13 (Sox13) gene is expressed in mouse spermatogonia. In addition, it has been identified as islet cell autoantigen 12 (ICA12), which is involved in the pathogenesis of autoimmune diseases, including type 1 diabetes mellitus (DM) and primary biliary cirrhosis. SOX13 expression has never been investigated in patients with KS. In this age-matched case-control study performed in 10 patients with KS and 10 controls, we found that SOX13 is significantly downregulated in peripheral blood mononuclear cells of patients with KS compared to controls. This finding might be consistent with the germ cell loss typical of patients with KS. However, the role of SOX13 in the pathogenesis of germ cell loss and humoral autoimmunity in patients with KS deserves to be further explored.
2020
Klinefelter syndrome, Rare disease, intellectual disability, SOX13, germ cells
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/443718
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