Endocrine Abstracts

Context: Pendrin is a transmembrane protein located at the apical end of the thyrocyte where it mediates the efflux of iodide through the thyroid follicular cell. Recently, pendrin was described as a significant antibody target in Japanese patients with Graves’ disease or autoimmune hypothyroidism using an immunoblotting assay. However, a subsequent study failed to verify this in autoimmune thyroid disease patients of Tunisian origin.Objective: The ...

Rationale and hypothesis: Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disease which is characterised by chronic mucocutaneous candidiasis and multiple autoimmune endocrinopathies and results from mutations in the autoimmune regulator (AIRE) gene. Approximately 80% of APS1 patients present with hypoparathyroidism which is suggested to result from aberrant immune responses against the parathyroid gland. As patients typically display org...

Context: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by mutations in the autoimmune regulator (AIRE) gene and is characterised by the presence of chronic mucocutaneous candidiasis, hypoparathyroidism and Addison’s disease. Patients typically display organ-specific autoantibodies which correlate with a particular clinical manifestation. Previous studies have identified the parathyroid-expressed calcium-sensing receptor (CaSR) as an aut...