Searchable abstracts of presentations at key conferences in endocrinology

ea0021oc2.4 | Neuroendocrine tumours/pituitary | SFEBES2009

Geographical cluster of familial isolated pituitary adenoma kindreds with an identical AIP mutation

Ozfirat Zehra , Cain Josh , Chahal Harvinder , Stals Karen , Ellard Sian , Howlett Trevor , Levy Miles , Atkinson Brew , Morrison Patrick , Akker Scott , Grossman Ashley , Korbonits Marta

Mutations in the co-chaperone molecule AIP account for a predisposition to pituitary tumours in some families with familial isolated pituitary adenomas (FIPA). We now report on four apparently-unrelated families with the same mutation and originating from the same geographical area, suggesting a possible founder mutation.The index patient had gigantism (19 years, 208 cm) and had a female 4th cousin, once removed (13 years, 191 cm) with a large pituitary ...