AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas.

ABSTRACT:

Introduction

Up to 5% of all pituitary tumors are hereditary e.g. due to MEN1 or aryl hydrocarbon receptor-interacting protein (AIP) genes mutations.

Objectives

The study was aimed at the assessment of the frequency and characteristics of AIP-mutation related tumors in patients with apparently sporadic pituitary macroadenomas in the Polish population.

Materials and methods

The study included 131 patients (57 males, 74 females; median age 42 years) diagnosed with pituitary macroadenomas, and with a negative family history of familial isolated pituitary adenoma (FIPA) or multiple endocrine neoplasia type 1 (MEN1) syndromes. Sanger sequencing was used for the assessment of AIP gene variants. The study was approved by the Ethics Board of

SUBMITTER: Trofimiuk-Muldner M 

PROVIDER: S-EPMC9950257 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature