Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature-Reference-Cited by-同舟云学术

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

Published:2022-01 Issue: Volume:15 Page:175628482210768
ISSN:1756-2848
Container-title:Therapeutic Advances in Gastroenterology
language:en
Short-container-title:Therap Adv Gastroenterol

Author:

Ghisa Matteo¹²,Savarino Vincenzo³,Buda Andrea²,Katzka David A.⁴,Savarino Edoardo⁵^ORCID

Affiliation:

1. Gastroenterology Unit, Department of Surgery, Oncology and Gastroenterology, University of Padua, Padua, Italy

2. Gastroenterology Unit, Department of Oncological Gastrointestinal Surgery, S. Maria del Prato Hospital, Feltre, Italy

3. Gastroenterology Unit, Department of Internal Medicine, University of Genoa, IRCCS Ospedale Policlinico San Martino, Genoa, Italy

4. Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA

5. Gastroenterology Unit, Department of Surgery, Oncology and Gastroenterology, University of Padua, 35128, Padua, Italy

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.

Publisher

SAGE Publications

Subject

Gastroenterology

Link

http://journals.sagepub.com/doi/pdf/10.1177/17562848221076888

Reference18 articles.

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5. Eosinophilic oesophagitis and coeliac disease: is there an association?

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