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ACTH-independent macronodular adrenal hyperplasia 1

ACTH-independent macronodular adrenal hyperplasia 1 is characterized by adrenal hypertrophy and glucocorticoid overproduction (Cushing syndrome) while ACTH is rather suppressed. In isolated cases GNAS mutations were made responsible.

Systematic

Disorders of the glucocorticoid hormone system
ACTH-independent macronodular adrenal hyperplasia 1
GNAS
ACTH-independent macronodular adrenal hyperplasia 2
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disorder of the aldosterone system
Disordered steroidogenesis due to POR deficiency
Glucocorticoid resistance
Obesity, adrenal insufficiency, and red hair due to POMC deficiency

References:

1.

Reznik Y et al. (1992) Food-dependent Cushing's syndrome mediated by aberrant adrenal sensitivity to gastric inhibitory polypeptide.

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2.

Sato Y et al. (2014) Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.

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3.

Bourdeau I et al. (2006) 17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia.

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4.

Lee S et al. (2005) Ectopic expression of vasopressin V1b and V2 receptors in the adrenal glands of familial ACTH-independent macronodular adrenal hyperplasia.

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5.

Christopoulos S et al. (2005) Clinical and subclinical ACTH-independent macronodular adrenal hyperplasia and aberrant hormone receptors.

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6.

Bourdeau I et al. (2004) Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators.

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7.

KIRSCHNER MA et al. (1964) CUSHING'S SYNDROME: NODULAR CORTICAL HYPERPLASIA OF ADRENAL GLANDS WITH CLINICAL AND PATHOLOGICAL FEATURES SUGGESTING ADRENOCORTICAL TUMOR.

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8.

Fragoso MC et al. (2003) Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.

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9.

Miyamura N et al. (2002) Inherited adrenocorticotropin-independent macronodular adrenal hyperplasia with abnormal cortisol secretion by vasopressin and catecholamines: detection of the aberrant hormone receptors on adrenal gland.

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10.

Cartier D et al. (2003) Overexpression of serotonin4 receptors in cisapride-responsive adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia causing Cushing's syndrome.

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11.

Mune T et al. (2002) Eutopic overexpression of vasopressin v1a receptor in adrenocorticotropin-independent macronodular adrenal hyperplasia.

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12.

Mircescu H et al. (2000) Are ectopic or abnormal membrane hormone receptors frequently present in adrenal Cushing's syndrome?

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13.

Doppman JL et al. (2000) Adrenocorticotropin-independent macronodular adrenal hyperplasia: an uncommon cause of primary adrenal hypercortisolism.

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14.

Lacroix A et al. (1999) Leuprolide acetate therapy in luteinizing hormone--dependent Cushing's syndrome.

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15.

Lebrethon MC et al. (1998) Food-dependent Cushing's syndrome: characterization and functional role of gastric inhibitory polypeptide receptor in the adrenals of three patients.

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16.

Swain JM et al. (1998) Corticotropin-independent macronodular adrenal hyperplasia: a clinicopathologic correlation.

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17.

Lacroix A et al. (1997) Propranolol therapy for ectopic beta-adrenergic receptors in adrenal Cushing's syndrome.

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18.

Lacroix A et al. (1997) Abnormal adrenal and vascular responses to vasopressin mediated by a V1-vasopressin receptor in a patient with adrenocorticotropin-independent macronodular adrenal hyperplasia, Cushing's syndrome, and orthostatic hypotension.

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19.

Morioka M et al. (1997) ACTH-independent macronodular adrenocortical hyperplasia (AIMAH): report of two cases and the analysis of steroidogenic activity in adrenal nodules.

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20.

de Herder WW et al. (1996) Food-dependent Cushing's syndrome resulting from abundant expression of gastric inhibitory polypeptide receptors in adrenal adenoma cells.

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21.

Minami S et al. (1996) ACTH independent Cushing's syndrome occurring in siblings.

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22.

Koizumi S et al. (1994) Adrenocorticotropic hormone-independent bilateral adrenocortical macronodular hyperplasia: a case report and immunohistochemical studies.

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23.

Findlay JC et al. (1993) Familial adrenocorticotropin-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia.

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24.

Sasano H et al. (1994) ACTH-independent macronodular adrenocortical hyperplasia: immunohistochemical and in situ hybridization studies of steroidogenic enzymes.

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25.

Hamet P et al. (1987) Cushing syndrome with food-dependent periodic hormonogenesis.

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26.

Aiba M et al. (1991) Adrenocorticotropic hormone-independent bilateral adrenocortical macronodular hyperplasia as a distinct subtype of Cushing's syndrome. Enzyme histochemical and ultrastructural study of four cases with a review of the literature.

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27.

Lacroix A et al. (1992) Gastric inhibitory polypeptide-dependent cortisol hypersecretion--a new cause of Cushing's syndrome.

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28.

OMIM.ORG article

Omim 219080 external link
Update: Aug. 14, 2020
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