Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules.

doi:10.3389/fendo.2020.00036

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Article

Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules.

Frontiers in endocrinology - 1 Jan 2020

Mariani Beatriz Marinho de Paula, Nishi Mirian Yumie, Wanichi Ingrid Quevedo, Brondani Vania Balderrama, Lacombe Amanda Meneses Ferreira, Charchar Helaine, Pereira Maria Adelaide Albergaria, Srougi Victor, Tanno Fabio Yoshiaki, Ceccato Filippo, Regazzo Daniela, Barbot Mattia, Occhi Gianluca, Albiger Nora Maria Elvira, Vieira-Corrêa Marcelo, Kater Claudio Elias, Scaroni Carla, Chambô José Luis, Zerbini Maria Claudia Nogueira, Mendonca Berenice B, Almeida Madson Q, Fragoso Maria Candida Barisson Villares

Abstract excerpt

Objective: Germline ARMC5 mutations are considered to be the main genetic cause of primary macronodular adrenal hyperplasia (PMAH). PMAH is associated with high variability of cortisol secretion caused from subclinical hypercortisolism to overt Cushing's syndrome (CS), in general due to bilateral adrenal nodules and rarely could also be due to non-synchronic unilateral adrenal nodules. The frequency of adrenal...

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PMID: 32117062
DOI: 10.3389/fendo.2020.00036
PMCID: PMC7019100

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