Endocrine Abstracts

Background: Craniopharyngioma is a rare epithelial tumor of the central nervous system, affecting both children and adults and associated with significant morbidity.Objective: To study the postsurgical evolution of craniopharyngioma in adults after total or incomplete surgical resection.Material and methods: We performed a retrospective review of craniopharyngioma patients evaluated in the National Institute of Endocrinology in Buc...

Background: A large spectrum of AIP gene mutations has been identified in familial and sporadic pituitary adenomas (PA) with over 70 different mutations described to date. c.47G>A, p.R16H is an AIP exon 1 variant of unknown significance, its contribution to pituitary adenoma development being controversial.Aim: Characterization of p.R16H prevalence in a large Romanian cohort of PA patients and controls.Patients and methods: spo...

Introduction: We have recently described a novel AIP mutation c.940C>T, p.R314W, in a young sporadic acromegaly patient.Aim: To present a new case of AIP p.R314W mutation and screening results of a Romanian control group for p.R314W.Patients and methods: One sporadic acromegaly patient, investigated by sequencing screening of all six AIP exons, following informed consent, as part of a sporadic pituitary adenoma cohort. 110 cont...