Searchable abstracts of presentations at key conferences in endocrinology

ea0026p262 | Pituitary | ECE2011

A novel AIP mutation related to familial isolated pituitary adenomas (FIPA)

Garay I Bilbao , Coca M Alvarez , Daly A , Beckers A , Goena M

Introduction: It has been estimated that 15–20% of FIPA families harbor an AIP gene mutation (AIPmut). To our knowledge ~50 sequence variants -pathological and otherwise- have been described to date. We report a new FIPA family with an extensive genealogy, in which 4 members have pituitary adenomas in the setting of a novel AIPmut.Patients and methods: The index patient is a 37-year-old man, who presented with childhood onset of somatotropinoma and ...