Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep844 | Calcium and Bone | ECE2024

Case Report- An Atypical Case of Familial Hypocalciuric Hypercalcemia: A Novel missense mutation in the CASR Gene?

Louifi Taqiyeddine , Perpetue Jana , Zayet Hajer

Back Ground: Familial hypocalciuric hypercalcemia (FHH) is a benin cause of hypercalcemia that is characterized by autosomal dominant inheritence with high penetrance. In most cases, FHH results from inactivating mutations in the CaSR, the phenotypic aspect is a mild to moderate hypercalcemia, inappropriately normal or high PTH levels and relative hypocalciuria.Case report: We describe an atypical case of a 46 years old man who had clinical finding compa...