Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications.

ABSTRACT:

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 Gene

SUBMITTER: Howell S 

PROVIDER: S-EPMC8683639 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature