PRJNA801088
Recombinant Parathyroid Hormone Therapy For Neonatal Hypoparathyroidism Caused by CASR Gene Mutation
The calcium-sensing receptor (CaSR) maintains calcium concentration by regulating the secretion of parathyroid hormone (PTH) and urinary calcium excretion. Gain-of-function mutations in the CASR gene can lead to autosomal dominant hypocalcemia type 1 (ADH-1 or hypoparathyroidism), which is a rare cause of primary hypoparathyroidism and hypocalcemia.