Genome-wide gene expression profiling identifies overlap with malignant adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia
Date
2012
Authors
Gagliardi, L.
Ling, K.
Kok, C.
Carolan, J.
Brautigan, P.
Kenyon, R.
D'Andrea, R.
Van der Hoek, M.
Hahn, C.
Torpy, D.
Editors
Advisors
Journal Title
Journal ISSN
Volume Title
Type:
Journal article
Citation
Endocrine-Related Cancer, 2012; 19(3):19-23
Statement of Responsibility
Lucia 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
Conference Name
Abstract
ACTH-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).
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Dissertation Note
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Letter to the editor
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© 2012 Society for Endocrinology