Familial Isolated Pituitary Adenoma

Review
In: Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000.
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Excerpt

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

Publication types

  • Review