Endocrine Abstracts

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...

The calcium-sensing receptor (CaSR) is a G protein-coupled receptor with an extracellular bilobed venus flytrap domain (VFTD) predicted to contain five calcium-binding sites. The major site for calcium-binding is comprised of amino acid residues that line the cleft between the two lobes of the VFTD. We investigated the structure-function relationships of VFTD CaSR mutations identified in patients with familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperpa...