AIP mutations and gigantism

Abstract

AIP 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.

Keywords: Adénome hypophysaire; Adénome hypophysaire familial isolé (FIPA); Aryl hydrocarbon receptor interacting protein (AIP) gene; Familial isolated pituitary adenoma (FIPA); Gigantism; Gigantisme; Gène de aryl hydrocarbon receptor interacting protein (AIP); Pituitary adenoma.