Genome-wide gene expression profiling identifies overlap with malignant adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia

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dc.contributor.authorGagliardi, L.
dc.contributor.authorLing, K.
dc.contributor.authorKok, C.
dc.contributor.authorCarolan, J.
dc.contributor.authorBrautigan, P.
dc.contributor.authorKenyon, R.
dc.contributor.authorD'Andrea, R.
dc.contributor.authorVan der Hoek, M.
dc.contributor.authorHahn, C.
dc.contributor.authorTorpy, D.
dc.contributor.authorScott, H.
dc.date.issued2012
dc.descriptionLetter to the editor
dc.description.abstractACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of late-onset sporadic Cushing's syndrome (CS; Lacroix 2009). Discordance between massive adrenal hyperplasia and relatively mild hypercortisolism is distinctive of AIMAH, ascribed to differential localisation of steroidogenic enzymes in clear and compact cells, resulting in inefficient steroidogenesis (Lacroix 2009). Thus, CS is the result of hypercortisolism due to a colossal increase in adrenocortical cell mass. Iodocholesterol scintigraphy typically shows bilateral uptake consistent with bilateral adrenal hyperfunction, although unilateral or asymmetrical uptake may occur, guiding adrenal selection for resection (Gagliardi et al. 2009). We and others have reported AIMAH kindreds providing compelling evidence for an inherited basis in some cases (Gagliardi et al. 2009). The genetic basis of familial AIMAH is unknown, although segregation analysis suggests autosomal dominant inheritance (Gagliardi et al. 2009).
dc.description.statementofresponsibilityLucia Gagliardi, King-Hwa Ling, Chung H. Kok, Joseph Carolan, Peter Brautigan, Rosalie Kenyon, Richard J. D'Andrea, Mark Van der Hoek, Christopher N. Hahn, David J. Torpy and Hamish S. Scott
dc.identifier.citationEndocrine-Related Cancer, 2012; 19(3):19-23
dc.identifier.doi10.1530/ERC-11-0210
dc.identifier.issn1351-0088
dc.identifier.issn1479-6821
dc.identifier.orcidKok, C. [0000-0002-3181-7852]
dc.identifier.orcidHahn, C. [0000-0001-5105-2554]
dc.identifier.orcidTorpy, D. [0000-0002-5069-0981]
dc.identifier.orcidScott, H. [0000-0002-5813-631X]
dc.identifier.urihttp://hdl.handle.net/2440/74032
dc.language.isoen
dc.publisherSoc Endocrinology
dc.rights© 2012 Society for Endocrinology
dc.source.urihttps://doi.org/10.1530/erc-11-0210
dc.subjectHumans
dc.subjectAdrenal Cortex Neoplasms
dc.subjectAdrenal Hyperplasia, Congenital
dc.subjectGene Expression Profiling
dc.subjectGene Expression Regulation, Neoplastic
dc.subjectAdrenocorticotropic Hormone
dc.titleGenome-wide gene expression profiling identifies overlap with malignant adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia
dc.typeJournal article
pubs.publication-statusPublished

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