Diagnosis and management of polyendocrinopathy syndromes.

ABSTRACT

The autoimmune polyendocrinopathy syndromes are variable in presentation and can be challenging to diagnose and manage. Diagnosis of the type 1 autoimmune polyendocrinopathy syndrome can be difficult at an early age when often only one manifestation is present, and it may take years for others to appear. Increased awareness of polyendocrinopathy syndromes, combined with analysis of specific autoantibodies and molecular genetics, should help earlier diagnosis of these conditions and prevent serious complications. Further definition of susceptibility genes and autoantigens, as well as a better understanding of the pathogenesis, is required to improve the diagnosis and management of these patients.