Searchable abstracts of presentations at key conferences in endocrinology

ea0028p245 | Pituitary | SFEBES2012

Results and challenges of genetic testing in a large familial isolated pituitary adenoma (FIPA) kindred with an R304X AIP mutation

Williams Fred , Hunter Steven , Bradley Lisa , Morrison Patrick , Chahal Harvinder , Korbonits Marta , Atkinson A

20% of cases of FIPA have AIP gene mutations. These adenomas are often large and invasive. Our index case presented aged 13 with pituitary apoplexy. Histology showed necrotic tissue. He continued to grow and was 195 cm 4 y later. GH excess was confirmed. After treatment with octreotide and radiotherapy remission was achieved. His first cousin had also been successfully treated for acromegaly. This led to the original familial diagnosis. Subsequently, the c.910C>T, p.R304X ...

ea0038p304 | Pituitary | SFEBES2015

The founder R304* AIP mutation is prevalent in Irish acromegaly and gigantism patients as well as in the general population of Ireland

Radian Serban , Diekmann Yoan , Gabrovska Plamena , Holland Brendan , Bradley Lisa , Wallace Helen , Stals Karen , Bussell Anna-Marie , McGurren Karen , Cuesta Martin , Ryan Anthony W , Herincs Maria , Hernandez-Ramirez Laura C , Holland Aidan , Samuels Jade , Aflorei Elena Daniela , Barry Sayka , Denes Judit , Pernicova Ida , Stiles Craig E , Trivellin Giampaolo , McCloskey Ronan , Ajzensztejn Michal , Abid Noina , Akker Scott A , Mercado Moises , Cohen Mark , Thakker Rajesh V , Baldeweg Stephanie , Barkan Ariel , Musat Madalina , Levy Miles , Orme Steve , Unterlander Martina , Burger Joachim , Kumar Ajith V , Ellard Sian , McPartlin Joseph , McManus Ross , Linden Gerard J , Atkinson Brew , Thomas Mark G , Balding David J , Agha Amar , Thompson Chris J , Hunter Steve J , Morrison Patrick J , Korbonits Marta

Background: A founder mutated AIP allele, R304* was previously identified in several Irish familial isolated pituitary adenoma (FIPA) pedigrees from a small region within Mid Ulster, Northern Ireland, but the allele’s general population impact remains unknown.Aims: To estimate R304* prevalence in the general population and pituitary adenoma (PA) patients and to calculate the allele’s time to most recent common ancestor (tMRCA).<p c...