Endocrine Abstracts

Context: Autoimmune polyendocrine syndrome type 1 (APS1) is characterised by multiple autoimmune endocrinopathies and results from mutations in the autoimmune regulator (AIRE) gene. Approximately 80% of patients present with hypoparathyroidism which is suggested to result from autoimmune responses against the parathyroid glands. The calcium-sensing receptor (CaSR), which plays a pivotal role in maintaining calcium homeostasis by sensing blood calcium levels and regula...

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...

Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene. Major disease components include mucocutaneous candidiasis, hypoparathyroidism and Addison’s disease. Acquired hypoparathyroidism (AH) occurs in 80% of APS1 patients and is associated with hypocalcaemia, hyperphosphataemia and low serum levels of parathyroid hormone (PTH). Reports suggest that these clinical symptoms are initiated by...

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...