期刊
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
卷 35, 期 11, 页码 1003-1014出版社
SPRINGER
DOI: 10.1007/BF03346742
关键词
FIPA; pituitary adenoma; AIP
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. (J. Endocrinol. Invest. 35: 1003-1014, 2012) (C) 2012, Editrice Kurtis
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