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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...

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Autores principales: Howell, Susan, Buchanan, Catherine, Davis, Shanlee M., Miyazawa, Heather, Furuta, Glenn T., Tartaglia, Nicole R., Nguyen, Nathalie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
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.
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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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