Turner's syndrome and inflammatory bowel disease: a case report with immunologic studies

A patient with Turner's syndrome who developed ulcerative colitis (UC) is reported, and reports from the literature of 16 cases of Turner's syndrome with inflammatory bowel disease (IBD) are reviewed. Most of the patients previously described had severe disease. Half of the patients had ulcerative colitis and half had Crohn's disease (CD). Of those with Crohn's, most had colonic involvement. Of note, also, half of the patients had an isochromosome for the long arm of X which usually is found in only 17% of all patients with Turner's syndrome. A high incidence of autoimmune diseases is associated with this syndrome. We demonstrate the presence of specific anticolonic antibodies in this patient and propose some possible explanations for the association of this particular chromosomal disorder with autoimmune diseases.