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- Title
Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature.
- Authors
Ghisa, Matteo; Savarino, Vincenzo; Buda, Andrea; Katzka, David A.; Savarino, Edoardo
- Abstract
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.
- Subjects
KLINEFELTER'S syndrome; EOSINOPHILIC esophagitis; X chromosome; LITERATURE reviews; GENETIC regulation; DISEASE susceptibility
- Publication
Therapeutic Advances in Gastroenterology, 2022, Vol 15, p1
- ISSN
1756-283X
- Publication type
Article
- DOI
10.1177/17562848221076888