Familial Isolated Pituitary Adenoma

摘要: Familial Isolated Pituitary Adenoma (FIPA) is a term used to identify genetic condition with pituitary tumors without other endocrine or associated abnormalities. FIPA families contribute around 2% the overall incidence of tumors. heterogeneous disease both in terms clinical phenotype as well from background point view. Some have been identified germline mutations aryl hydrocarbon receptor interacting protein (AIP) gene leading incomplete penetrance young-onset, mostly growth hormone, mixed hormone/prolactin-secreting, prolactin-secreting adenomas. Due low penetrance, almost half AIP mutation-positive patients do not positive family history. Duplication orphan G coupled GPR101 gene, located on Xq26.3, leads high hyperplasia adenoma resulting infant-onset GH excess, usually concomitant hyperprolactinemia, named X-linked acrogigantism (XLAG). The majority families, however, no known mutation. Their picture includes various types adenomas, either homogeneous (all affected members same type) (different within family), presenting and an age onset significantly different sporadic Here we review features, genetics screening aspects FIPA. For complete coverage all related areas Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG .