Searchable abstracts of presentations at key conferences in endocrinology

ea0090p678 | Pituitary and Neuroendocrinology | ECE2023

Genetic Analyses Of 20 Turkish FIPA Families Utilizing Whole Exome Sequencing: Preliminary Results Of A Multicenter Collaborative Study

Eda Ertorer Melek , Tuncer Feyza , Ciftci Sema , Tanrikulu Seher , Soyluk Selcukbiricik Ozlem , Topaloğlu Omercan , Evran Mehtap , Kadioglu Pinar , Aydin Sevcan , Can Bulent , Sehit Canan , Pekkolay Zafer , Oruk Gonca , Cetinarslan Berrin , Yarman Sema

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...