Gonadal dysgenesis and ulcerative colitis. A case report with clinical, cytogenetic, and post-mortem studies.

In recent publications (Forbes and Engel, I963; Williams, Engel, and Forbes, I964) we have described the high incidence of diabetes and thyroiditis in a series of cases of gonadal dysgenesis and in their close relatives, and have pointed out that a number of diseases in which an auto-immune mechanism has been suspected have occurred in association with this chromosomal disorder. In these reports no conclusions were drawn as to the cause of this association, though the possibility was suggested that the presence of auto-antibodies in the parents might lead to chromosomal abnormalities in the gametes or zygotes. Another possibility considered was that the chromosomal abnormalities in themselves led to a greater liability to auto-immune disease. The present report describes a patient with gonadal dysgenesis complicated by ulcerative colitis, who was studied clinically and cytogenetically, at the time of operation upon the colon and finally at necropsy. The findings suggested a third mechanism which could explain the development of auto-immune disease in some of these patients.