ea0049gp195 | Pituitary & endocrine Tumours | ECE2017
Marques Pedro
, Dang Mary
, Ogilvie Arla
, Storr Helen
, Powell Michael
, Grieve Joan
, Evason Jane
, Kumar Ajith
, Korbonits Marta
Introduction: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 1530% of familial isolated pituitary adenomas (FIPA). We report a 4-generation FIPA kindred with a heterozygous AIP gene deletion in exon 2, highlighting the benefits of genetic screening and management challenges in affected subjects and asymptomatic carriers.Patients: A 45y woman died of a spinal ependymoma (obligate carrier)...