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Cited by 170Adrenal and Paraganglionic TumorsAdrenal Hormones and DisordersPituitary Gland Disorders and Treatments

The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.

Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation

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Faucz, Fabio R., Zilbermint, Mihail, Lodish, Maya B., Szarek, Eva, Trivellin, Giampaolo, Sinaii, Ninet, Berthon, Annabel, Libé, Rossella, Assié, Guillaume, Espiard, Stéphanie, Drougat, Ludivine, Ragazzon, Bruno, Bertherat, Jerome, Stratakis, Constantine A.·2014·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2013-4280PMC PMC4037724
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Abstract

CONTEXT: Inactivating germline mutations of the probable tumor suppressor gene, armadillo repeat containing 5 (ARMC5), have recently been identified as a genetic cause of macronodular adrenal hyperplasia (MAH). OBJECTIVE: We searched for ARMC5 mutations in a large cohort of patients with MAH. The clinical phenotype of patients with and without ARMC5 mutations was compared. METHODS: Blood DNA from 34 MAH patients was genotyped using Sanger sequencing. Diurnal serum cortisol measurements, plasma ACTH levels, urinary steroids, 6-day Liddle's test, adrenal computed tomography, and weight of adrenal glands at adrenalectomy were assessed. RESULTS: Germline ARMC5 mutations were found in 15 of 34 patients (44.1%). In silico analysis of the mutations indicated that seven (20.6%) predicted major implications for gene function. Late-night cortisol levels were higher in patients with ARMC5-damaging mutations compared with those without and/or with nonpathogenic mutations (14.5 ± 5.6 vs 6.7 ± 4.3, P < .001). All patients carrying a pathogenic ARMC5 mutation had clinical Cushing's syndrome (seven of seven, 100%) compared with 14 of 27 (52%) of those without or with mutations that were predicted to be benign (P = .029). Repeated-measures analysis showed overall higher urinary 17-hydroxycorticosteroids and free cortisol values in the patients with ARMC5-damaging mutations during the 6-day Liddle's test (P = .0002). CONCLUSIONS: ARMC5 mutations are implicated in clinically severe Cushing's syndrome associated with MAH. Knowledge of a patient's ARMC5 status has important clinical implications for the diagnosis of Cushing's syndrome and genetic counseling of patients and their families.

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Authors
Faucz, F. R., Zilbermint, M., Lodish, M. B., Szarek, E., Trivellin, G., Sinaii, N., Berthon, A., Libé, R., Assié, G., Espiard, S., Drougat, L., Ragazzon, B., Bertherat, J., & Stratakis, C. A.
Affiliations
  • Centre National de la Recherche Scientifique (FR)
  • National Institutes of Health (US)
  • Inserm (FR)
Corresponding author
Stratakis, Constantine A.
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2014-06
Volume
99
Issue
6
Pages
E1113-E1119
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jc.2013-4280
PMC
PMC4037724
OpenAlex
W2040928761
Cited by
166
References
22
Citations by year
2026: 6 · 2025: 8 · 2024: 16 · 2023: 11 · 2022: 14 · 2021: 9 · 2020: 18 · 2019: 13 · 2018: 16 · 2017: 11 · 2016: 14 · 2015: 18 · 2014: 9
FWCI
17.20
Type
journal article
Language
en
Open access
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion, public-domain)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Institutes of Health
Topics
  • Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pituitary Gland Disorders and Treatments
Keywords
macronodular adrenal hyperplasia, ARMC5, germline mutations, Cushing's syndrome, cortisol, ACTH, urinary 17-hydroxycorticosteroids, tumor suppressor, genetic counseling
MeSH terms
Adult, Cushing Syndrome, DNA Mutational Analysis, Female, Gene Frequency, Humans, Male, Middle Aged, Cohort Studies, Genetic Predisposition to Disease, Mutation, Missense, Tumor Suppressor Proteins, Armadillo Domain Proteins

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