Advances in diagnosis and management of familial pituitary adenomas

Familial pituitary adenomas accounts for approximately 5-8 % of all pituitary adenomas. Besides the adenomas occurring as part of syndromic entities that bring together several endocrine or other systems disorders, 2-3% of the familial pituitary adenomas fit into the familial isolated pituitary adenomas (FIPA) syndrome. 20% of FIPA syndromes have shown mutations in the AIP gene and have distinct clinical characteristics. Recent findings have isolated a new non-AIP FIPA syndrome called X-LAG, resulting from duplication in GPR-101 gene. These new advances in the field of pituitary disease are opening up a new challenging domain to both clinician and researcher. This review will focus on these last findings and their contribution to the diagnosis and the management of familial pituitary adenomas.