ESPE Abstracts

Background:Calcium-sensing receptors (CaSR) located on parathyroid glands and kidneys act to regulate serum calcium levels. Inherited hypocalciuric hypercalcaemia and autosomal dominant hypercalciuric hypocalcaemia are due to inactivating and activating CaSR mutations respectively. We present the immediate and medium term postoperative clinical course of the first paediatric patient with hypercalciuric hypocalcaemia managed with a simultaneous parathyroid and ...

Background: Hereditary syndromic endocrine tumours are associated with significant morbidity in the paediatric population. Advances in molecular genetics enable early cascade genetic testing with early initiation of tumour screening. Controversy exists around the start age and burdens arising from screening-related harms.Objective: To describe the efficiency of the screening program for paediatric patients with genetic r...