PMID- 23310926
OWN - NLM
STAT- MEDLINE
DCOM- 20131028
LR  - 20211021
IS  - 1720-8386 (Electronic)
IS  - 0391-4097 (Linking)
VI  - 35
IP  - 11
DP  - 2012 Dec
TI  - Familial isolated pituitary adenomas: an emerging clinical entity.
PG  - 1003-14
AB  - 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.
FAU - Martucci, F
AU  - Martucci F
AD  - Department of Endocrinology, Barts and the London School of Medicine, Queen Mary 
      University of London, London, UK.
FAU - Trivellin, G
AU  - Trivellin G
FAU - Korbonits, M
AU  - Korbonits M
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (aryl hydrocarbon receptor-interacting protein)
RN  - Pituitary Adenoma, Familial Isolated
SB  - IM
MH  - Genetic Predisposition to Disease
MH  - Growth Hormone-Secreting Pituitary Adenoma/*genetics
MH  - Humans
MH  - Intracellular Signaling Peptides and Proteins/*genetics
MH  - Mutation
MH  - Phenotype
MH  - Pituitary Neoplasms/*genetics
EDAT- 2013/01/12 06:00
MHDA- 2013/10/29 06:00
CRDT- 2013/01/12 06:00
PHST- 2013/01/12 06:00 [entrez]
PHST- 2013/01/12 06:00 [pubmed]
PHST- 2013/10/29 06:00 [medline]
AID - 8802 [pii]
AID - 10.1007/BF03346742 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 2012 Dec;35(11):1003-14. doi: 10.1007/BF03346742.