Citations 1
Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature
Savarino, Vincenzo , Buda, Andrea , Katzka, David A. , Savarino, Edoardo , Savarino, Edoardo , Ghisa, Matteo
Therapeutic Advances in Gastroenterology | February 16, 2022 | Volume: 15 | Issue: No issue available | Pages: No page available
Klinefelter syndrome (KS) is a sex aneuploidy abnormality comprised by one additional X chromosome. It occurs in 1:500–1000 male births. As with women, an increased susceptibility to autoimmune diseases is present. We report three cases of coexisting EoE and KS for a prevalence of 2% in our EoE clinic. Possible changes in gene expression in KS are reviewed, some of which may be related to activation of genes located on the X chromosome. We postulate that these X-activated genes in patients with KS yield a greater likelihood of developing EoE because of their genetic predisposition to autoimmune diseases.