hrp0094p2-88 | Bone, growth plate and mineral metabolism | ESPE2021

Two sibling cases with heterozygous calcium sensing receptor (CaSR) gene mutation

Kurnaz Erdal , Savaş-Erdeve Şenay , Demirel Nihal , Aycan Zehra , Cetinkaya Semra ,

Background: Heterozygous inactivating mutations in the calcium sensing receptor (CaSR) gene cause mild hypercalcemia, normal to slightly elevated parathormone (PTH) levels and may vary from an asymptomatic clinical picture to a mild course. This clinical picture is also called familial hypercalcemic hypocalciuria. In this study, it is aimed to present two sibling cases due to CaSR mutation with interesting features.Case...