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

AIP Mutation–Negative Families

Eighty per cent of the families with FIPA do not harbour a detectable AIP mutation. AIP mutation–negative FIPA families have a more varied clinical phenotype: a mixture of somatotrophinomas, lactotrophinomas and NFPAs (Fig. 2), primarily macroadenomas, with an older average age and a wider age range at diagnosis (mean approximately 40 years, range 12–73 years)[13] compared with AIP mutation–positive FIPA families has been observed.[10] It is possible that AIP mutation–negative FIPA families are genotypically heterogeneous (i.e. there are several currently unknown genes causing disease in the various families). Penetrance is probably lower than in AIP mutation–positive patients.[13]

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