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Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications
BACKGROUND: Supernumerary sex chromosome aneuploidies (SCA) are common genetic conditions characterized by additional X or Y chromosome, affecting ~1/500 individuals, with the most frequent karyotypes of 47,XXY (Klinefelter syndrome), 47,XXX (Trisomy X), and 47,XYY (Jacob syndrome). Although there i...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683639/ https://www.ncbi.nlm.nih.gov/pubmed/34738344 http://dx.doi.org/10.1002/mgg3.1833 |
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author | Howell, Susan Buchanan, Catherine Davis, Shanlee M. Miyazawa, Heather Furuta, Glenn T. Tartaglia, Nicole R. Nguyen, Nathalie |
author_facet | Howell, Susan Buchanan, Catherine Davis, Shanlee M. Miyazawa, Heather Furuta, Glenn T. Tartaglia, Nicole R. Nguyen, Nathalie |
author_sort | Howell, Susan |
collection | PubMed |
description | BACKGROUND: Supernumerary sex chromosome aneuploidies (SCA) are common genetic conditions characterized by additional X or Y chromosome, affecting ~1/500 individuals, with the most frequent karyotypes of 47,XXY (Klinefelter syndrome), 47,XXX (Trisomy X), and 47,XYY (Jacob syndrome). Although there is considerable phenotypic variation among these diagnoses, these conditions are characterized by the presence of overlapping physical, medical, developmental, and psychological features. Our interdisciplinary clinic’s experience anecdotally supports previous published findings of atopic conditions, feeding difficulties, and gastroesophageal reflux to be more prevalent in SCAs (Bardsley et al., Journal of Pediatrics, 2013, 163, 1085; Samango‐Sprouse et al., The Application of Clinical Genetics, 2019, 12, 191; Tartaglia et al., Acta Paediatrica, 2008, 100, 851). Furthermore, we observed that many of these patients have also been diagnosed with eosinophilic esophagitis (EoE), an association not currently reported in the literature. METHODS: We conducted a retrospective chart review of all 667 patients with SCA seen at a large tertiary care center to investigate the prevalence and presenting features of EoE. RESULTS: Four percent of children with SCAs had a biopsy‐confirmed diagnosis of EoE, which represents an odds ratio of 32 (95% CI 6–185) when compared to the prevalence rates reported in the general population. CONCLUSION: Routine screening for EoE symptoms may be warranted for individuals with SCA and atopic conditions. |
format | Online Article Text |
id | pubmed-8683639 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-86836392021-12-30 Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications Howell, Susan Buchanan, Catherine Davis, Shanlee M. Miyazawa, Heather Furuta, Glenn T. Tartaglia, Nicole R. Nguyen, Nathalie Mol Genet Genomic Med Original Articles BACKGROUND: Supernumerary sex chromosome aneuploidies (SCA) are common genetic conditions characterized by additional X or Y chromosome, affecting ~1/500 individuals, with the most frequent karyotypes of 47,XXY (Klinefelter syndrome), 47,XXX (Trisomy X), and 47,XYY (Jacob syndrome). Although there is considerable phenotypic variation among these diagnoses, these conditions are characterized by the presence of overlapping physical, medical, developmental, and psychological features. Our interdisciplinary clinic’s experience anecdotally supports previous published findings of atopic conditions, feeding difficulties, and gastroesophageal reflux to be more prevalent in SCAs (Bardsley et al., Journal of Pediatrics, 2013, 163, 1085; Samango‐Sprouse et al., The Application of Clinical Genetics, 2019, 12, 191; Tartaglia et al., Acta Paediatrica, 2008, 100, 851). Furthermore, we observed that many of these patients have also been diagnosed with eosinophilic esophagitis (EoE), an association not currently reported in the literature. METHODS: We conducted a retrospective chart review of all 667 patients with SCA seen at a large tertiary care center to investigate the prevalence and presenting features of EoE. RESULTS: Four percent of children with SCAs had a biopsy‐confirmed diagnosis of EoE, which represents an odds ratio of 32 (95% CI 6–185) when compared to the prevalence rates reported in the general population. CONCLUSION: Routine screening for EoE symptoms may be warranted for individuals with SCA and atopic conditions. John Wiley and Sons Inc. 2021-11-05 /pmc/articles/PMC8683639/ /pubmed/34738344 http://dx.doi.org/10.1002/mgg3.1833 Text en © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Original Articles Howell, Susan Buchanan, Catherine Davis, Shanlee M. Miyazawa, Heather Furuta, Glenn T. Tartaglia, Nicole R. Nguyen, Nathalie Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications |
title | Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications |
title_full | Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications |
title_fullStr | Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications |
title_full_unstemmed | Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications |
title_short | Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications |
title_sort | eosinophilic esophagitis in individuals with sex chromosome aneuploidies: clinical presentations and management implications |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683639/ https://www.ncbi.nlm.nih.gov/pubmed/34738344 http://dx.doi.org/10.1002/mgg3.1833 |
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