Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep749 | Neuroendocrinology | ECE2016

Molecular genetic analysis in familial isolated pituitary adenoma patients

Pigarova Ekaterina , Tarasova Tatiana , Mamedova Elizaveta , Dalantaeva Nadezhda , Tulpakov Anatoliy , Dzeranova Larisa

Introduction: FIPA- is a syndrome which includes pituitary adenomas with any kind of secretion in two or more members in a family in the absence of MEN or Carney complex; it also includes isolated family somatotropin syndrome (IFS).Aim: Molecular genetic study of a gene panel in FIPA patient.Materials and methods: Study included 1 family (2 men, 24 and 58 years) with pituitary adenomas with homogeneous secretion type — somatot...

ea0028p241 | Pituitary | SFEBES2012

Can the stability of variant aryl hydrocarbon receptor interacting protein (AIP) be a marker for pathogenicity in FIPA (familial isolated pituitary adenoma)?

Martucci Federico , Trivellin Giampaolo , Garcia Edwin , Dalantaeva Nadezhda , Chapple Paul , Pecori Giraldi Francesca , Grossman Ashley , Korbonits Marta

Background: 20% of the familial isolated pituitary adenoma (FIPA) population harbour an aryl hydrocarbon receptor-interacting protein (AIP) gene mutation. The recognition of whether a variant is pathogenic can be difficult, in cases where the observed change does not lead to a truncated protein. Segregation with disease in a family, in silico predictions, loss of heterozigosity in the tumour, in vitro functional studies and screening of the variant in controls may help in asce...

ea0031oc5.8 | Pituitary and neoplasia | SFEBES2013

Pituitary adenoma and phaeochromocytoma/paraganglioma – a novel syndrome with a heterogeneous genetic background

Denes Judit , Swords Francesca , Rattenberry Eleanor , Xekouki Paraskevi , Kumar Ajith , Wassif Christopher , Fersht Naomi , Baldeweg Stephanie , Morris Damian , Lightman Stafford , Thompson Chris J , Agha Amar , Rees Aled , Druce Maralyn , Grieve Joan , Powell Michael , Boguszewski Cesar Luiz , Higham Claire , Davis Julian , Preda Cristina , Trouillas Jacqueline , Dalantaeva Nadezhda , Ribeiro-Oliveira Antonio , Dutta Pinaki , Roncaroli Federico , Thakker Rajesh V , Stevenson Mark , O'Sullivan Brendan , Taniere Phillipe , Skordilis Kassiani , Gabrovska Plamena , Barlier Anne , Ellard Sian , Stals Karen , Stratakis Constantine A. , Grossman Ashley B. , Maher Eamonn , Korbonits Marta

Pituitary adenomas and phaeochromocytoma/paragangliomas (PHAEO/PGL) can very rarely occur in the same patient or in the same family. Together, they are not known to be part of any classical endocrine neoplasia syndromes. In some caes the pathogenetic mechanism may be secondary to a PHAEO secreting GHRH leading to somatotroph hyperplasia and clinical acromegaly. However, we suggest several other mechanisms which could lead to the development of pituitary and PHAEO/PGL together:...