IMMUNOGENETICS OF POLYGLANDULAR FAILURE

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Through this protocol we are attempting to understand the association of autoimmune diseases and type 1 diabetes. In particular, subjects with type 1 diabetes are at an increased risk for Addison's disease. Addison's disease is adrenal gland failure and is characterized by cortisol and aldosterone insufficiency. Its onset is often insidious with subjects experiencing many years of symptoms prior to being diagnosed. However, it is life threatening and un- or misdiagnosed Addison's disease can be associated with adrenal crisis and death. Addison's disease is associated with the production of 21-hydroxylase autoantibodies. These autoantibodies are present in 1.5% of our patients with type 1 diabetes and the production of these autoantibodies alerts us to the risk for significant illness with adrenal insufficiency. These antibodies may be present for many years prior to the development of adrenal gland failure. Assessment of adrenal gland function requires stimulation testing, in particular ACTH stimulation. ACTH stimulates the adrenal gland to produce cortisol and an inadequate response of cortisol is diagnostic of adrenal insufficiency. Through this protocol subjects with 21-hydroxylase antibodies are evaluated for adrenal insufficient with ACTH stimulation testing.