Low frequency of AIP mutations in patients with young-onset sporadic pituitary macroadenomas.

ABSTRACT:

Purpose

Mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene cause familial isolated pituitary adenomas (FIPA). AIP mutations have also been found in patients with apparently sporadic pituitary adenomas, particularly in young patients with large adenomas. The aim of this study was to determine the frequency of AIP germline mutations in patients with young-onset sporadic pituitary macroadenomas.

Methods

The AIP gene was sequenced in 218 Portuguese patients with sporadic pituitary macroadenomas diagnosed before the age of 40 years.

Results

Heterozygous rare sequence variants in AIP were identified in 18 (8.3%) patients. However, only four (1.8%) patients had pathogenic or likely pathogenic variants. These consisted of two already known mutations (p.

SUBMITTER: Gaspar LM 

PROVIDER: S-EPMC10558361 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature