Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature
THERAPEUTIC ADVANCES IN GASTROENTEROLOGY(2022)
摘要
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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关键词
eosinophilic esophagitis, klinefelter syndrome, sex aneuploidy, dysphagia
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