AIP variant causing familial prolactinoma

Carty, D. M., Harte, R., Drummond, R. S., Ward, R., Magid, K., Collier, D., Owens, M. and Korbonits, M. (2021) AIP variant causing familial prolactinoma. Pituitary, 24(1), pp. 48-52. (doi: 10.1007/s11102-020-01085-5) (PMID:33010004) (PMCID:PMC7864850)

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Abstract

Pathogenic variants in the aryl hydrocarbon receptor-interacting protein (AIP) gene are increasingly recognised as a cause of familial isolated pituitary adenoma. AIP-associated tumours are most commonly growth hormone (GH) producing. In our cohort of 175 AIP mutation positive patients representing 93 kindreds, 139 (79%) have GH excess, 19 have prolactinoma (17 familial and 2 sporadic cases) and out of the 17 clinically non-functioning tumours 4 were subsequently operated and found to be GH or GH & prolactin immunopositive adenoma. Here we report a family with an AIP variant, in which multiple family members are affected by prolactinoma, but none with GH excess. To our knowledge this is the first reported family with an AIP pathogenic variant to be affected solely by prolactinoma. These data suggest that prolactinoma families represent a small subset of AIP mutation positive kindreds, and similar to young-onset sporadic prolactinomas, AIP screening would be indicated.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Drummond, Dr Russell and Carty, Dr David
Authors: Carty, D. M., Harte, R., Drummond, R. S., Ward, R., Magid, K., Collier, D., Owens, M., and Korbonits, M.
College/School:College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health
College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Pituitary
Publisher:Springer
ISSN:1386-341X
ISSN (Online):1573-7403
Published Online:03 October 2020
Copyright Holders:Copyright © 2020 The Authors
First Published:First published in Pituitary 24(1): 48-52
Publisher Policy:Reproduced under a Creative Commons License

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