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AIP mutations and gigantism.

Liliya Rostomyan1, Iulia Potorac1, Pablo Beckers2

  • 1Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium.

Annales D'Endocrinologie
|May 10, 2017
PubMed
Summary
This summary is machine-generated.

Genetic screening for AIP gene mutations is crucial in specific pituitary adenoma patient groups, especially those with pituitary gigantism. Early detection of AIP mutations aids timely treatment and improves patient outcomes for acromegaly and gigantism.

Keywords:
Adénome hypophysaireAdénome hypophysaire familial isolé (FIPA)Aryl hydrocarbon receptor interacting protein (AIP) geneFamilial isolated pituitary adenoma (FIPA)GigantismGigantismeGène de aryl hydrocarbon receptor interacting protein (AIP)Pituitary adenoma

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Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Acromegaly and gigantism result from excess growth hormone, often caused by pituitary adenomas.
  • Aryl hydrocarbon receptor-interacting protein (AIP) gene mutations are implicated in a subset of pituitary adenomas.
  • The prevalence of AIP mutations varies significantly across different pituitary adenoma patient cohorts.

Purpose of the Study:

  • To investigate the frequency of AIP mutations in specific pituitary adenoma patient populations.
  • To determine the clinical utility of targeted AIP genetic screening.

Main Methods:

  • Retrospective analysis of pituitary adenoma patient data.
  • Genetic screening for AIP mutations and deletions in selected patient groups.

Main Results:

  • AIP mutations are rare in sporadic acromegaly but more frequent in pituitary gigantism (29%), familial isolated pituitary adenoma (FIPA) kindreds, and young patients (≤30 years) with macroadenomas.
  • Pituitary gigantism exhibits the highest prevalence of AIP mutations among the studied groups.

Conclusions:

  • Targeted genetic screening for AIP mutations/deletions is recommended for patients with pituitary gigantism, FIPA, and young-onset macroadenomas.
  • Early diagnosis of AIP-related acromegaly/gigantism facilitates prompt clinical management and better control of excessive growth and comorbidities.