The polyglandular autoimmune syndromes (PAS) comprise a wide spectrum of autoimmune disorders and are divided into a very rare juvenile (type I) and a relatively common adult type with (type II) or without adrenal failure (PAS III). For PAS II/III, susceptibility genes are known inreasing the risk for developing autoimmune disorders, but without being causative. Actual diagnosis of PAS involves serological measurement of organ-specific autoantibodies and subsequent functional testing.
We present the history of a 30-year-old monozygotic female twin pair. One of them had Hashimotos thyroiditis as first manifestation of PAS and, 4 years later, Addisons disease. The first clinical sign of the second patient was type 1. Diabetes with severe hyperglycemia and, at the same time, hypothyroidism was also found due to Hashimotos thyroiditis, which was followed with Addisons disease 5 years later. These monozygotic twin girls had different manifestations of PAS type II although they were HLA-identical.
Conclusions: Environmental factors can influence the manifestation of PAS II in HLA-identical twins?
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology