Co‐existing Coeliac and Inflammatory Bowel Disease in a Patient with Turner's Syndrome

Abstract

A patient, aged 20, with Turner's syndrome was found to have both coeliac disease and chronic ulcerative colitis. Although a gluten-free diet restored to normal the jejunal biopsy, persisting diarrhoea was found to be due to coexisting left-sided ulcerative colitis. A search of the literature revealed only three detailed reports of chronic inflammatory bowel disease in coeliac patients, one of coeliac disease in Turner's syndrome and three of inflammatory bowel disease in Turner's syndrome. Growth failure with coeliac or inflammatory bowel disease in females, may call for a chromosomal study, even in the absence of webbing of the neck. The reason for three uncommon disorders occurring in this patient remains obscure.

Increased Prevalence of Celiac Disease in Girls with Turner Syndrome Detected Using Antibodies to Endomysium and Tissue Transglutaminase

“…MÉTHODES : On a fait subir un test de dépistage de la MC à quarantecinq fillettes atteintes du ST de façon prospective au moyen d'épreuves à l'insu par test standard : l'anticorps endomysial (EmA) dirigé contre l'imvoir page suivante A n association between Turner syndrome (TS) and celiac disease (CD) has been suggested in several case reports (1)(2)(3)(4). More recently, studies from Italy and Sweden showed that the prevalence of biopsy-proven CD among girls with TS is 5% to 9% (5)(6)(7). This study aimed to ascertain the prevalence of CD in the girls with TS followed at British Columbia's Children's Hospital, University of British Columbia (UBC), Vancouver, British Columbia.…”

Celiac Disease and Selective IgA Deficiency in a Girl With Atypical Turner Syndrome

“…Thus, it remains uncertain whether our patient had a chance association of CD and atypical TS. It seems remarkable, however, that among the 10 cases with this association in the literature (1‐5 and this case), a total of 4 were reported to have IgA deficiency (2 and this case). Therefore, and although this is also the result of a retrospective analysis of available data, the association of CD and TS may have been overlooked in the past, particularly in monosymptomatic girls with growth failure.…”

The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review

“…Nine cases (34%) were associated to other comorbidities such as autoimmune diseases (Hashimoto thyroiditis, primary biliary cirrhosis, acquired von Willebrand disease, celiac disease, and primary sclerosing cholangitis) and cardiac defects [bicuspid aortic valve, coarctation of the aorta, and atrial septal defect) ( 13 , 17 , 21 , 24 , 26 , 27 , 29 , 33 ). Treatment with biologic drugs (infliximab, adalimumab, and ustekinumab) was reported in two cases, and in one case, a drug-induced cardiomyopathy during treatment with adalimumab was described ( 29 , 33 ).…”

“…The karyotype of the included cases was characterized by the absence of an X chromosome (monosomy or mosaic monosomy) in 12 cases ( 12 , 14 – 16 , 18 , 21 , 24 , 26 , 27 , 29 ) or by the presence of a structurally abnormal X chromosome (or mosaic pattern with structurally abnormal X chromosome) in the remaining 13 cases ( 10 , 11 , 13 – 17 , 19 , 20 , 28 ). In one case, the karyotype was not specified ( 33 ).…”