Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature.

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.
Competing Interests: Conflict of interest statement: The authors declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: VS has received lecture or consultancy fees from Reckitt Benckiser; DK consultation fees Takeda and Celgene; ES has received lecture or consultancy fees from Abbvie, Alfasigma, Amgen, Bristol-Myers Squibb, EG Stada Group, Fresenius Kabi, Grifols, Janssen, Innovamedica, Malesci, Medtronic, Merck & Co, Novartis, Reckitt Benckiser, Sandoz, SILA, Sofar, Takeda, and Unifarco. The remaining authors have no conflicts to declare.
(© The Author(s), 2022.)