Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.

ABSTRACT:

Context

Familial isolated pituitary adenoma (FIPA) due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations is an autosomal dominant disease with incomplete penetrance. Clinical screening of apparently unaffected AIP mutation (AIPmut) carriers could identify previously unrecognized disease.

Objective

To determine the AIP mutational status of FIPA and young pituitary adenoma patients, analyzing their clinical characteristics, and to perform clinical screening of apparently unaffected AIPmut carrier family members.

Design

This was an observational, longitudinal study conducted over 7 years.

Setting

International collaborative study conducted at referral centers for pituitary diseases.

Participants

FIPA families (n 216) and sporadic young-o

SUBMITTER: Hernandez-Ramirez LC 

PROVIDER: S-EPMC4570169 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature