Endocrine Abstracts

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...

Objective: Hereditary pituitary adenomas (PAs) are rare and occur either isolated or as part of a syndrome. Familial isolated pituitary adenoma (FIPA) is the presence of only PA in at least two members of a family, where “Aryl hydrocarbon receptor interacting protein-AIP” gene mutations have been identified in 10-20% of cases. However, the cause of tumorigenesis in the majority is unknown. We aimed to identify novel genetic variants in a cohort of FIPA patie...