ArticleMolecular genetics & genomic medicine2021
Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Natural History of Prenatally Identified Children with 48,XXYY Syndrome in Infancy and Early Childhood.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Continuity of care in Klinefelter syndrome: age-adapted modules for standardized clinical data collection (I-KS).Endocrine connections · 2025Article
- Achalasia in Klinefelter syndrome: A suspected pediatric case as well as prevalence analysis suggesting increased risk in this population.JPGN reports · 2024Article
- Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review.Endocrine connections · 2023Review
- Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications.Molecular genetics & genomic medicine · 2021Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundSupernumerary 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.
methodsWe 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.
resultsFour 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.
conclusionRoutine screening for EoE symptoms may be warranted for individuals with SCA and atopic conditions.
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