The Association of Inflammatory Bowel Disease and X Chromosomal Abnormality

Abstract

Five patients with inflammatory bowel disease (IBD) had abnormalities of the X chromosome (the Turner syndrome). Based on the estimated prevalence rate of 1:10,000 live female births for the Turner syndrome and 1:50,000 for IBD, random association of these two conditions would be expected in 1:500 million live female births. Given these odds, the findings in these five patients would suggest a clinical association not based on pure chance and unlikely to be accounted for by Berkson's or other referral bias. It is speculated that abnormal immune mechanism could possibly increase the susceptibility of patients with the Turner syndrome to develop IBD. Both conditions cause growth failure. Awareness of the association has clinical importance in identifying the cause of growth failure in a child with either X chromosomal abnormality or IBD.