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 ...