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Volume 23, Issue 2 (March 2021) 23, 157–162; 10.4103/aja.aja_37_20

SOX13 gene downregulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome

Rossella Cannarella1, Michele Salemi2, Rosita A Condorelli2, Laura Cimino2, Giorgio Giurato3, Giovanna Marchese3, Angela Cordella3, Corrado Romano3, Sandro La Vignera3, Aldo E Calogero3

1 Department of Clinical and Experimental Medicine, University of Catania, Catania 95123, Italy
2 Oasi Research Institute-IRCCS, Troina (EN) 94018, Italy
3 Genomix4Life Srl, Department of Medicine, Surgery and Dentistry “Schola Medica Salernitana,” University of Salerno, Baronissi (SA) 84081, Italy

Correspondence: Dr. RA Condorelli (rosita.condorelli@unict.it)

Date of Submission 20-Oct-2019 Date of Acceptance 13-May-2020 Date of Web Publication 27-Oct-2020


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 on ten patients with KS and ten 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.

Keywords: germ cells; intellectual disability; Klinefelter syndrome; rare disease; sex-determining region of Y-box 13 (SOX13)

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