SDHB mutations are linked to the familial paraganglioma syndrome type 4 (PGL4), which is associated with predominantly extra-adrenal disease and has high metastatic rates.
The aim of the present study is to examine whether the Gly146Ala variation in the gene for SF-1, that is known to impair SF-1 function and related to adrenal disorders, affects susceptibility to type 2 diabetes.
In order to investigate further autoantibody reactivity with TPO, we have studied the TPO binding characteristics of sera from patients with autoimmune thyroid disease (n = 20), autoimmune adrenal disease (Addison's disease; n = 8) and apparently healthy blood donors (n = 9) using recombinant TPO expressed with a series of truncations and internal deletions.