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