Searchable abstracts of presentations at key conferences in endocrinology

ea0063p413 | Adrenal and Neuroendocrine Tumours 2 | ECE2019

Phenotypic variability within a family with multiple endocrine neoplasia type 1 (MEN1) syndrome

Ahmad Tariq , Sharma Jayant , Crowley Rachel , Kyithar Ma Pyeh

MEN1 is an autosomal dominant endocrine tumour syndrome, caused by inactivating mutations of the MEN1 tumour suppressor gene at 11q13 locus and characterised by occurrence of hyperparathyroidism, pancreatic tumours and pituitary adenomas. We describe a family with MEN1 syndrome. The index case was a 71-year-old man, referred to Endocrinology clinic in Midland Regional Hospital Portlaoise for hypercalcemia (calcium 3 mmol/l, phosphate 0.5 mmol/l, PTH 350 pg/ml, creatin...