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

Conclusions

The FIPA syndrome has been recognized as a disease entity only recently; currently, clinical research groups are gathering data to establish appropriate screening and management guidelines. Screening of AIP mutation positive subjects has been shown to result in early diagnosis and treatment of possibly devastating, large, and often rapidly growing adenomas.

Careful family history and clinical assessment is needed in patients with pituitary adenomas to identify appropriately candidates for genetic screening. With the clinical application of next generation sequencing, it is likely that a pituitary tumour panel will be developed in the future. Even in this scenario, careful phenotyping will continue to be of crucial importance to make sense of the molecular data generated. Genetic counselling helps to avoid unnecessary anxiety in patients and will help to identify at risk family members who may benefit from further genetic and clinical assessment.

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