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...

hrp0082p1-d2-80 | Diabetes (1) | ESPE2014

Methylmalonic Acidemia (MMA) with Unusual Presentation Mimicking Diabetic Ketoacidosis

Dejkhamron Prapai , Wejaphikul Karn , Katanyuwong Kamornwan , Unachak Kevalee , Wattanasirichaigoon Duangrurdee , Tanpaiboon Pranoot

Background: Hyperglycemic ketoacidosis is an acute, life threatening condition requiring early etiologic recognition and management to prevent serious morbidity/mortality. The most common cause is diabetic ketoacidosis (DKA). Organic acidaemias (OAs) are inheritable metabolic disorders caused by defects in protein metabolism resulting in acid accumulation. Patients with metabolic decompensation usually present with lactic and/or ketoacidosis, with/without hypoglycemia. Hypergl...