Searchable abstracts of presentations at key conferences in endocrinology

ea0086p191 | Bone and Calcium | SFEBES2022

A case of Familial hypocalciuric hypercalcemia with markedly elevated serum calcium

Ahmed Suhail , Mizanour Rahman Muhammad , Raza Qureshi Shahzeel , Ahmed Khan Shahid , Qureshi Saba , Botros George , Kumar Satis , Kumar Dashora Umesh

A 50-year-old lady presented with fatigue, tiredness and constipation, has more than twenty years history of hypercalcemia. She was clinically and biochemically diagnosed as familial hypocalciuric hypercalcemia with high calcium, normal parathormone, low urinary calcium, low fractional excretion of calcium, positive family history. Genetic confirmation was done by positive molecular genetic analysis of CASR gene. She has persistent high calcium level ranging between 2.8 and 3....