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Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation
Open accessAbstract
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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“Patients with ARMC5 mutations tend to display adrenal hyperplasia associated with multiple nodules (172-175).”
From Adrenal incidentaloma (2020) · cites this paper as [175]
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Self-citation
Metadata
- 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
- 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
- green
- www.ncbi.nlm.nih.gov
- 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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