Endocrine Abstracts

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...

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...

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:...