ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers
نویسندگان
چکیده
منابع مشابه
ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.
BACKGROUND Corticotropin-independent macronodular adrenal hyperplasia may be an incidental finding or it may be identified during evaluation for Cushing's syndrome. Reports of familial cases and the involvement of both adrenal glands suggest a genetic origin of this condition. METHODS We genotyped blood and tumor DNA obtained from 33 patients with corticotropin-independent macronodular adrena...
متن کاملARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia
To investigate Armadillo repeat-containing 5 (ARMC5) mutations in Chinese patients with familial and sporadic primary bilateral macronodular adrenal hyperplasia (PBMAH), we performed clinical data collection and ARMC5 sequencing for three PBMAH families and 23 sporadic PBMAH patients. ARMC5 pathogenic germline mutations were identified in all 3 PBMAH families. Secondary ARMC5 somatic mutations ...
متن کاملARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH)
SUMMARY PBMAH is a rare etiology of Cushing syndrome (CS). Familial clustering suggested a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat-containing 5 (ARMC5) gene. A 70-year-old female patient was admitted due to left femoral neck fracture in May 2014, in Orthopedics Department. During hospitalization, hypertension (HTA) a...
متن کاملGenetics of primary macronodular adrenal hyperplasia.
ACTH-independent macronodular adrenal hyperplasia is a rare cause of Cushing's syndrome (CS), accounting for <2% of all endogenous CS cases; however it is more frequently identified incidentally with sub-clinical cortisol secretion. Recently, cortisol secretion has been shown to be regulated by ectopic corticotropin, which is in turn produced by clusters of steroidogenic cells of the hyperplast...
متن کاملThe ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia.
OBJECTIVE Primary macronodular adrenal hyperplasia (PMAH) is a rare type of Cushing's syndrome (CS) that results in increased cortisol production and bilateral enlargement of the adrenal glands. Recent work showed that the disease may be caused by germline and somatic mutations in the ARMC5 gene, a likely tumor suppressor gene (TSG). We investigated 20 different adrenal nodules from one patient...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2019
ISSN: 2472-1972
DOI: 10.1210/js.2019-00210