Familial isolated pituitary adenomas: an emerging clinical entity

J Endocrinol Invest. 2012 Dec;35(11):1003-14. doi: 10.1007/BF03346742.

Abstract

Familial pituitary tumors are increasingly recognized. While some of these cases are related to wellknown syndromic conditions such as multiple endocrine neoplasia type 1 (MEN1) or Carney complex, others belong to the familial isolated pituitary adenoma (FIPA) patient group. The discovery of heterozygous, loss-of-function germline mutations in the gene encoding the aryl hydrocarbon receptor interacting protein (AIP) in 2006 has subsequently enabled the identification of a mutation in this gene in 20% of FIPA families and 20% of childhood-onset simplex soma- totroph adenomas. The exact mechanism by which the lack of AIP leads to pituitary adenomas is not clear. AIP mutations cause a low penetrance autosomal dominant disease with often a distinct phenotype characterized by young-onset, aggressive, large GH, mixed GH and PRL or PRL-secreting adenomas. This review aims to summarize currently available clinical data on AIP mutation-positive and negative FIPA patients.

Publication types

  • Review

MeSH terms

  • Genetic Predisposition to Disease
  • Growth Hormone-Secreting Pituitary Adenoma / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Mutation
  • Phenotype
  • Pituitary Neoplasms / genetics*

Substances

  • Intracellular Signaling Peptides and Proteins
  • aryl hydrocarbon receptor-interacting protein

Supplementary concepts

  • Pituitary Adenoma, Familial Isolated