Searchable abstracts of presentations at key conferences in endocrinology

ea0059p127 | Neuroendocrinology and pituitary | SFEBES2018

Identifying disease causing variants in aryl hydrocarbon receptor-interacting protein (AIP) variants and their significance on the clinical phenotypes

Yang Zhou Jordi , Lillina Vignola M , Collier David , Thong Lim Chung , Iacovazzo Donato , Awad Sherine , Korbonits Marta

Introduction: Mutations in the aryl hydrocarbon receptor-interaction protein (AIP) gene predisposes to growth hormone or prolactin secretin adenomas, usually, manifesting before the age of 30 years old. There are 834 variants of the AIP reported in the GnomAD database and over 100 variants have been described in patients with pituitary adenomas. While the pathogenic role of variants resulting in truncated protein is beyond doubt, determination of the clinical...