hrp0092p2-26 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Successful Parathyroidectomy with Intraoperative Parathyroid Hormone Monitoring in a Neonate with Severe Primary Hyperparathyroidism due to a Novel CASR Mutation

Sorapipatcharoen Kinnaree , Poomthavorn Preamrudee , Mahachoklertwattana Pat , Wattanasirichaigoon Duangrurdee , Tim-Aroon Thipwimol , Karanes Sathit , Molagool Sani

Neonatal severe primary hyperparathyroidism (NSHPT) is a rare and life-threatening disorder caused by inactivating mutation in CASR gene, which encodes Ca-sensing receptor. NSHPT leads to severe neonatal hypercalcemia with inappropriately increased serum intact parathyroid hormone (iPTH) and decreased urinary Ca excretion. Hydration, forced diuresis, calcitonin, bisphosphonates and cinacalcet have been used to lower serum Ca prior to surgery. Total parathyroidectomy i...