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[Macronodular adrenal hyperplasia causing Cushing's syndrome due to ARMC5 gene mutation.]

Orvosi hetilap - 13 Aug 2023

Hella Zoltán, Tőke Judit, Patócs Attila, Varga Zsolt, Dabasi Gabriella, Kovács Gábor László, Tóth Miklós

Abstract excerpt

Our 69-year-old female patient was investigated for a 20 kg weight gain over 2 years. The patient's medical history included hypertension, hyperuricemia, bilateral cataract surgery and musculosceletal complaints. Diabetes mellitus was not found. Physical examination revealed abdominal obesity, proximal myopathy and atrophic, vulnerable skin. The "overnight", low-dose and long, low-dose dexamethasone suppression...

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Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Armadillo Domain Proteins
Cushing Syndrome
Hydrocortisone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Iodine Radioisotopes

Tumor Suppressor Proteins

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Identifiers

PMID: 37573559
DOI: 10.1556/650.2023.32817

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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[Macronodular adrenal hyperplasia causing Cushing's syndrome due to ARMC5 gene mutation.]PMID 37573559Read ↗

Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.Semantic proximity Read ↗

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional ConsequencesSemantic proximity Read ↗

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.Semantic proximity Read ↗

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.Semantic proximity Read ↗

ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.Semantic proximity Read ↗

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.Semantic proximity Read ↗

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an updateSemantic proximity Read ↗

Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patientsSemantic proximity Read ↗

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.Semantic proximity Read ↗

Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia.Semantic proximity Read ↗

Familial bilateral macronodular adrenal hyperplasia due to a new ARMC 5 germline mutation. Clinical status and possible association with other neoplasms.Semantic proximity Read ↗

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome.Semantic proximity Read ↗

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