ORIGINAL ARTICLE
Year : 2021  |  Volume : 23  |  Issue : 2  |  Page : 157-162

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


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 Address:
Rosita A Condorelli
Department of Clinical and Experimental Medicine, University of Catania, Catania 95123
Italy
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/aja.aja_37_20

Rights and Permissions

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.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed979    
    Printed68    
    Emailed0    
    PDF Downloaded98    
    Comments [Add]    

Recommend this journal