Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature
| Autor: | Matteo Ghisa, Vincenzo Savarino, Andrea Buda, David A. Katzka, Edoardo Savarino |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Therapeutic Advances in Gastroenterology, Vol 15 (2022) |
| Druh dokumentu: | article |
| ISSN: | 1756-2848 17562848 |
| DOI: | 10.1177/17562848221076888 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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