| [ Summary ] |
Hypoparathyroidism is a disease associated with hypocalcaemia and hyperphosphatasia caused by a decrease in PTH secretion or PTH resistance. Genetic disorders in the calcium-sensing receptors, TBX1, GCMB, GATA3, TBCE and PTH as well as autoimmune disease are included in previously described idiopathic hypoparathyroidism related conditions. Recent evidence indicates that abnormal GNAS gene encoding for the Gs protein and methylation abnormalities in the GNAS locus are important for the molecular pathogenesis of pseudohypoparathyroidism. |