• Annales d'endocrinologie · Jun 2017

    Review

    AIP mutations and gigantism.

    • Liliya Rostomyan, Iulia Potorac, Pablo Beckers, Adrian F Daly, and Albert Beckers.
    • Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium.
    • Ann. Endocrinol. (Paris). 2017 Jun 1; 78 (2): 123-130.

    AbstractAIP mutations are rare in sporadic acromegaly but they are seen at a higher frequency among certain specific populations of pituitary adenoma patients (pituitary gigantism cases, familial isolated pituitary adenoma (FIPA) kindreds, and patients with macroadenomas who are diagnosed ≤30 years). AIP mutations are most prevalent in patients with pituitary gigantism (29% of this group were found to have mutations in AIP gene). These data support targeted genetic screening for AIP mutations/deletions in these groups of pituitary adenoma patients. Earlier diagnosis of AIP-related acromegaly-gigantism cases enables timely clinical evaluation and treatment, thereby improving outcomes in terms of excessive linear growth and acromegaly comorbidities.Copyright © 2017 Elsevier Masson SAS. All rights reserved.

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