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

Márta Korbonits; Helen Storr; Ajith V. Kumar


Clin Endocrinol. 2012;77(3):351-356. 

In This Article

Who Should Be Tested for AIP Mutations?

Individuals with a pituitary adenoma in whom molecular genetic testing for an AIP germline mutation should be considered include:

  • Patients fulfilling the criteria for FIPA.A

  • Patients with any pituitary adenoma diagnosed before the age of 18.B

  • Patients with a pituitary macroadenoma (>10 mm) diagnosed before the age of 30 years.C


  1. ACurrent data suggest that 20% will harbour an AIP mutation.[14] The chance of identifying an AIP mutation in a family with only microprolactinomas is low.

  2. BRecent data suggest that up to 20% may harbour an AIP mutation. While the chances of an AIP mutation in paediatric Cushing's disease and NFPA are low, they are considerably higher in somatotroph and lactotroph adenomas.[15, 25, 27] Testing for MEN1 gene mutations has been suggested in childhood somato- and lactotroph adenomas;[3] this is now included in MEN1 testing guidelines.[38]

  3. CCurrent data suggest that around 11% of this group will have an AIP mutation.[14,15,26,27]

Currently, AIP is the only gene implicated in FIPA, but it is expected that one or more further genes will be identified in the future.

We have summarized our suggestions regarding the approach to genetic testing in patients with pituitary adenomas on Fig. 3.

Figure 3.

Suggested approach for genetic testing in patients with pituitary adenomas (adapted from [3]). *Weak evidence for these suggestions not enough data is available about pituitary blastoma to include it into this scheme.


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