PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex

European Journal of Endocrinology
Florian W KieferAlois Gessl

Abstract

Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine disease observed in CNC. Here, we describe the first case of a patient with CNC and adrenocorticotropic hormone (ACTH)-dependent Cushing disease due to a pituitary corticotroph adenoma. Loss-of-heterozygosity analysis of the pituitary tumour revealed loss of the wild-type copy of PRKAR1A, suggesting a role of this gene in the pituitary adenoma development. PRKAR1A loss-of-function mutations can rarely lead to ACTH-secreting pituitary adenomas in CNC patients. Pituitary-dependent disease should be considered in the differential diagnosis of Cushing syndrome in CNC patients.

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Citations

Aug 8, 2018·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Adriana AlbaniMarily Theodoropoulou
Dec 12, 2018·The Journal of Endocrinology·Sara PepeDonato Iacovazzo
Dec 28, 2019·Journal of Clinical Medicine·Christina Tatsi, Constantine A Stratakis
Aug 30, 2017·Clinical Endocrinology·Adriana AlbaniMartin Reincke
Dec 4, 2019·Expert Review of Endocrinology & Metabolism·Angeline Jia Jia ShenChristopher J Yates
Nov 23, 2020·The Journal of Clinical Endocrinology and Metabolism·Andrew V UzilovEliza B Geer
Feb 6, 2021·Endocrine·Judit Dénes, Márta Korbonits
May 18, 2020·Best Practice & Research. Clinical Endocrinology & Metabolism·Christina TatsiConstantine A Stratakis
Mar 30, 2021·Frontiers in Endocrinology·Crystal D C KamilarisFady Hannah-Shmouni
Oct 12, 2021·Experimental and Therapeutic Medicine·Florica SandruDiana Loreta Paun

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