hrp0094p2-64 | Bone, growth plate and mineral metabolism | ESPE2021

Lack of Cinacalcet response in Neonatal Severe Hyperparathyroidism (NSHPT) due to homozygous CASR mutation

Haider Ammar , Aftab Sommayya , Chaudhary Shumaila , Qadir Mazhar , Nadeem Anjum Muhammad , Saeed Anjum , Shaheen Tahir , Haroon Farah , Arshad Cheema Huma , Shaukat Mehmood , Ahmad Khawaja , Waheed Irfan ,

Background: Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutation characterized by striking hyperparathyroidism leading to severe hypercalcemia. Heterozygous loss of function in CASR gives rise to a benign variant called familial hypocalciuric hypercalcemia which needs no treatment. We are reporting 3 cases of NSHPT due to inactivating homozygous CASR mutation n...