Endocrine Abstracts (2010) 22 P250

Different manifestations of polyglandular autoimmune syndrome in HLA-identical monozygous twins

Éva Csajbók1, Sándor Magony1, Zsuzsanna Valkusz1, Pál Pánczél2 & János Julesz1

11st Dept. of Internal Medicine Endocrine Unit, University of Szeged, Szeged, Hungary; 23rd Dept. of Internal Medicine, Semmelweis University, Budapest, Hungary.

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 Hashimoto’s thyroiditis as first manifestation of PAS and, 4 years later, Addison’s 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 Hashimoto’s thyroiditis, which was followed with Addison’s 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?

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