Identification of predictive criteria for pathogenic variants of the Primary Bilateral Macronodular Adrenal Hyperplasia gene ARMC5 in 352 unselected patients.
Sign Up to like & getrecommendations! Published in 2022 at "European journal of endocrinology"
DOI: 10.1530/eje-21-1032
Abstract: OBJECTIVE Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a heterogeneous disease characterized by adrenal macronodules and variable levels of cortisol excess, with not clearly established clinical diagnostic criteria. It can be caused by ARMC5 germline… read more here.
Keywords: pathogenic variants; adrenal hyperplasia; bilateral macronodular; predictive criteria ... See more keywords
Retention of aberrant cortisol secretion in a patient with bilateral macronodular adrenal hyperplasia after unilateral adrenalectomy
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DOI: 10.2147/tcrm.s196171
Abstract: Aberrant cortisol secretion responses after exogenous stimuli such as upright posture, eating a mixed meal or receiving agents influencing aberrant G-protein-coupled receptors in adrenal glands, are often observed in patients with bilateral macronodular adrenal hyperplasia… read more here.
Keywords: cortisol; cortisol secretion; unilateral adrenalectomy; bilateral macronodular ... See more keywords
Case Report: A Novel ARMC5 Germline Mutation in a Patient with Primary Bilateral Macronodular Adrenal Hyperplasia and Hypogammaglobulinemia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.834067
Abstract: Primary bilateral macronodular adrenal hyperplasia (PBMAH) represents an uncommon cause of endogenous hypercortisolism. Since the first description in 2003 in a French cohort, many papers have been published describing families as well as isolated individuals… read more here.
Keywords: macronodular adrenal; primary bilateral; bilateral macronodular; case ... See more keywords