An Overview of the Heterogeneous Causes of Cushing Syndrome Resulting From Primary Macronodular Adrenal Hyperplasia (PMAH)
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DOI: 10.1210/jendso/bvac041
Abstract: Abstract Primary macronodular adrenal hyperplasia (PMAH) is considered a rare cause of adrenal Cushing syndrome, is pituitary ACTH-independent, generally results from bilateral adrenal macronodules (>1 cm), and is often associated with variable cortisol secretion, resulting… read more here.
Keywords: adrenal hyperplasia; hyperplasia pmah; macronodular adrenal; pmah ... See more keywords
ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers
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DOI: 10.1210/js.2019-00210
Abstract: Abstract Context Primary macronodular adrenal hyperplasia (PMAH) is a rare type of Cushing or subclinical Cushing syndrome and is associated with bilateral multinodular formation. ARMC5 is one of the responsible genes for PMAH. Objectives This… read more here.
Keywords: variant carriers; macronodular adrenal; hyperplasia pmah; primary macronodular ... See more keywords
A Novel ARMC5 Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing
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DOI: 10.3390/diagnostics12123028
Abstract: Background: Primary macronodular adrenocortical hyperplasia (PMAH) is a rare form of adrenal Cushing’s syndrome with incomplete penetrance which may be sporadic or autosomal dominant. The inactivation of the ARMC5 gene, a potential tumor suppressor gene,… read more here.
Keywords: germline variant; whole exome; variant; primary macronodular ... See more keywords