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Ann Endocrinol (Paris). 2017 Jun;78(2):123-130. doi: 10.1016/j.ando.2017.04.012. Epub 2017 May 5.

AIP mutations and gigantism.

Author information

1
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium.
2
Department of Clinical Biochemistry, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium.
3
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium. Electronic address: albert.beckers@chu.ulg.ac.be.

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

PMID:
28483363
DOI:
10.1016/j.ando.2017.04.012
[Indexed for MEDLINE]

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