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

Follow-up

AIP Mutation–positive Families

To draw up appropriate clinical recommendations, long-term data need to be gathered to clarify the natural history of AIP carriers. In our current practice, surveillance of relatives who have inherited the family-specific AIP mutation (or those family members of AIP mutation positive individuals who do not elect to undergo genetic testing) includes:

Children (≥4 year) yearly measurements of height and weight with calculation of height velocity and documentation of development of puberty. Yearly pituitary function tests are recommended. (prolactin and IGF-I; others if clinically indicated). Baseline pituitary MRI is advised around the age of 10 years, and repeat MRI scanning of the pituitary every 5 years can be considered if clinical and pituitary function tests remain normal.

Adults are advised to have a baseline clinical assessment with pituitary hormone tests and baseline MRI followed by yearly pituitary function tests. Consider repeat MRI of the pituitary every 5 years until the age of 30 years if clinical and pituitary function tests remain normal. Monitoring frequency may be reduced above the age of 30 years. While we currently follow-up patients of all ages, in the future, if data support this, screening could be further reduced above the age of 50 years, after which the likelihood of development of a pituitary adenoma is very low (although described) in AIP mutation–positive families.

Surveillance data from AIP mutation–positive families in the last few years have revealed a number of AIP mutation carrier patients with hormone-secreting macroadenomas who underwent treatment,[18,39] and carriers with a clinically nonfunctioning microadenomas,[15,18,40] who, although they could represent cases of incidentalomas, are advised to be kept under observation because of their mutation status.[18]

AIP Mutation–negative Families

It is not easy to establish the appropriate clinical follow-up of family members of AIP mutation–negative FIPA patients, as penetrance is low and asymptomatic carriers cannot be identified by genetic screening. Therefore, the chance of identification of clinically relevant disease in asymptomatic family members is relatively low. Such screening is currently performed in a research setting in individuals over the age of 12.

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