Endocrine Abstracts

Introduction: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% 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)...