hrp0098p1-218 | Bone, Growth Plate and Mineral Metabolism 3 | ESPE2024

Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor Mutation: Experience with Cinacalcet and Parathyroidectomy

Bora Ulukapi Hasan , Sarikaya Ozdemir Behiye , Bakir Gizem , Okur Iclal , Dere Gunal Yasemin , Saylam Guleser , Kurnaz Erdal , Keskin Meliksah , Savas Erdeve Senay

Introduction: Neonatal severe hyperparathyroidism (NSHPT) is a life-threatening disease characterized by hypercalcemia and bone demineralization due to homozygous or compound heterozygous loss-of-function mutations in the calcium-sensing receptor (CaSR) gene. Most cases require emergency parathyroidectomy to be life-saving. Alternative treatments, such as pamidronate and cinacalcet, may be used until surgery is feasible. We present a case of severe hypercalcem...