Searchable abstracts of presentations at key conferences in endocrinology

ea0019oc40 | Thyroid, reproduction and endocrine tumours | SFEBES2009

The clinical and genetic characteristics of patients with familial isolated pituitary adenoma

Chahal H , Igreja S , Gueorguiev M , Quinton R , Wass J , Popovic V , Ribeiro-Oliveira A Jr , Monson J , Akker S , Gallego P , Orme S , Goldstone A , Bevan J , Cheetam T , Davis J , Clayton R , Flanagan D , Frohman L , Grossman A , Korbonits M

Background: Familial pituitary adenomas can occur in the classic syndromes of MEN-1 and Carney complex. Recently an autosomal dominant disease with incomplete penetrance has been described as ‘familial-isolated-pituitary-adenoma’ (FIPA). Previous studies of familial acromegaly and gigantism disclosed germline mutations in the AIP gene located in the previously suspected chromosome 11q13 region.Aims: To analyse the prevalence of AIP-mutations in...