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.
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| http://dx.doi.org/10.1177/17562848221076888 | DOI Listing |
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