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Familial isolated pituitary adenomas: An emerging clinical entity

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Abstract

Familial pituitary tumors are increasingly recognized. While some of these cases are related to well-known 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 somatotroph 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.

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  1. Department of Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, Charterhouse Square, London, UK, EC1M 6BQ

    F. Martucci, G. Trivellin & M. Korbonits MD, PhD

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Martucci, F., Trivellin, G. & Korbonits, M. Familial isolated pituitary adenomas: An emerging clinical entity. J Endocrinol Invest 35, 1003–1014 (2012). https://doi.org/10.1007/BF03346742

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