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AIP variant causing familial prolactinoma.

David M Carty1, Rachael Harte2, Russell S Drummond2

  • 1Department of Diabetes, Endocrinology & Clinical Pharmacology, Glasgow Royal Infirmary, Glasgow, UK. David.Carty@glasgow.ac.uk.

Pituitary
|October 3, 2020
PubMed
Summary

Pathogenic variants in the aryl hydrocarbon receptor-interacting protein (AIP) gene can cause pituitary adenomas. This study identifies a family with an AIP variant exclusively presenting with prolactinoma, suggesting a distinct familial subset.

Keywords:
AIP mutationFamilialPituitaryProlactinoma

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Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Pathogenic variants in the aryl hydrocarbon receptor-interacting protein (AIP) gene are recognized causes of familial isolated pituitary adenoma.
  • AIP-associated pituitary adenomas most commonly exhibit growth hormone (GH) excess.

Observation:

  • A cohort of 175 AIP mutation-positive patients from 93 kindreds showed 79% with GH excess and 17% with prolactinoma.
  • A novel family with an AIP variant was identified, where multiple members were affected solely by prolactinoma, with no cases of GH excess.

Findings:

  • This represents the first reported family with a pathogenic AIP variant exclusively presenting with prolactinoma.
  • The findings indicate that prolactinoma families constitute a small subset of AIP mutation-positive kindreds.

Implications:

  • AIP gene screening is recommended for families with prolactinoma, particularly those with young-onset disease.
  • Understanding AIP variants' role in pituitary adenoma subtypes can refine genetic testing and patient management strategies.