Gene Downregulation in Peripheral Blood Mononuclear Cells of Patients with Klinefelter Syndrome

Overview

Journal Asian J Androl

Specialty Urology

Date 2020 Oct 28

PMID 33109779

Citations 1

Authors

Rossella Cannarella

Michele Salemi

Rosita A Condorelli

Laura Cimino

Giorgio Giurato

Giovanna Marchese

Angela Cordella

Corrado Romano

Sandro La Vignera

Aldo E Calogero

Affiliations

Soon will be listed here.

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 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.

Citing Articles

SOX13 is a novel prognostic biomarker and associates with immune infiltration in breast cancer.

Gao T, Jiang B, Zhou Y, He R, Xie L, Li Y Front Immunol. 2024; 15:1369892.

PMID: 38707897 PMC: 11066178. DOI: 10.3389/fimmu.2024.1369892.

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