Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp5 | Acromegaly | ECE2018

The importance of MEN1 gene variants in AIP mutation negative FIPA patients

Yarman Sema , Tuncer Feyza Nur , Serbest Esin , Ogret Yeliz

Introduction: Pituitary adenomas (PAs) that occur in a familial setting account for no more than 5%, which can be part of familial tumor syndromes such as Multiple Endocrine Neoplasia type 1 (MEN1) and type 4 (MEN4), Carney Complex (CNC) or Familial Isolated Pituitary Adenoma (FIPA). The presence of two or more cases of PAs without MEN1 or CNC characteristics in the same family, enable FIPA diagnosis. Heterozygous germline inactivating mutations in the aryl hydrocarbon rec...