ea0074oc8 | Oral Communications | SFENCC2021
Seguna Desiree
, Rizvi Fareeha
, Gorrigan Rebecca
, Wiles Kate
, Khan Rehan
, Drake William Martyn
Section 1: Case history: We present the case of a 21-year-old lady known to harbour a homozygous inactivating mutation of the calcium sensing receptor (CaSR) which led to uncontrolled hypercalcaemia in infancy, necessitating emergency total parathyroidectomy. The CaSR plays an important role in calcium homeostasis. Inactivating mutations result in a higher calcium set-point and various degrees of hypercalcaemia based on the severity of functional impairment. In the...