ORIGINAL ARTICLE
Ahead of Print

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

PMID: 33109779

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
Search
 Back
 
  Search Pubmed for
 
    -  Cannarella R
    -  Salemi M
    -  Condorelli RA
    -  Cimino L
    -  Giurato G
    -  Marchese G
    -  Cordella A
    -  Romano C
    -  La Vignera S
    -  Calogero AE
 Citation Manager
 Article Access Statistics
 Reader Comments
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed331    
    PDF Downloaded32    

Recommend this journal