Familial Pituitary Adenomas — Who Should be Tested for AIP Mutations?

Márta Korbonits; Helen Storr; Ajith V. Kumar

Disclosures

Clin Endocrinol. 2012;77(3):351-356. 

In This Article

Phenocopies

The prevalence of symptomatic pituitary tumours in the general population is estimated to be in the region of 1 in a 1000 to 1 in 1400.[33–36] Autopsy and radiological studies indicate that 14–22% of the population may harbour a pituitary tumour, most of these being asymptomatic.[37] Therefore, it is possible for more than one pituitary tumour to occur within a family by chance. Instances of phenocopies in families with an AIP mutation have already been documented.[9,13] Phenocopies will probably also be identified in AIP mutation–negative families as well, when the causative gene(s) are identified.

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