Unusual manifestations of type 1 autoimmune polyendocrinopathy

We present a family with five members affected by Type 1 autoimmune polyendocrinopathy. All patients had chronic mucocutaneous candidiasis and dental abnormalities. Four patients had ocular abnormalities, four had hypoparathyroidism, and three had Addisoh's disease. The family was unusual in that all four affected females had premature ovarian failure. The ocular abnormalities included two patients with subcapsular lens opacities, one patient with asymptomatic corneal opacities, and one patient with severe bilateral iridocyclitis with cataract formation. One patient had pernicious anaemia and one had insulin dependent diabetes mellitus. All patients were negative on repeated occasions for organ specific and non-organ specific autoantibodies. Lymphocyte studies were performed in four patients. A deficiency of T suppressor cells was found in three and low normal levels were present in the fourth suggesting that the syndrome may be due to a defect in suppressor T cells.