2007
DOI: 10.1530/eje.1.02324
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Familial adrenocorticotropin-independent macronodular adrenal hyperplasia with aberrant serotonin and vasopressin adrenal receptors

Abstract: ACTH-independent macronodular adrenocortical hyperplasia (AIMAH) is rare and generally presents as a sporadic disease. We describe a familial case of AIMAH with in vivo and in vitro demonstration of aberrant 5-HT4 and vasopressin adrenal receptors. Two sisters presented with clinical and biological features of mild Cushing's syndrome with bilateral macronodular adrenal enlargement on computerized tomography (CT)-scan evaluation. In vivo pharmacological tests showed a significant increase in plasma cortisol aft… Show more

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Cited by 91 publications
(76 citation statements)
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“…The reversal of hyperplasia between pregnancies in LH/hCG dependent CS favors the first hypothesis (2,30). The germline transmission of the same aberrant receptors in all affected family members in familial AIMAH is another strong indication in favor of an initiating role of the aberrant receptor (47)(48)(49)72). The demonstration that bovine adrenocortical cells transfected with the GIPR or LH/hCGR and injected under the renal capsule in immunodeficient mice lead to the development of hyperplastic adrenals and hypercortisolism further supports the initiation role of the ectopic receptor in pathophysiology of AIMAH (73)(74)(75).…”
Section: Molecular Mechanisms Of Aberrant Receptorsmentioning
confidence: 88%
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“…The reversal of hyperplasia between pregnancies in LH/hCG dependent CS favors the first hypothesis (2,30). The germline transmission of the same aberrant receptors in all affected family members in familial AIMAH is another strong indication in favor of an initiating role of the aberrant receptor (47)(48)(49)72). The demonstration that bovine adrenocortical cells transfected with the GIPR or LH/hCGR and injected under the renal capsule in immunodeficient mice lead to the development of hyperplastic adrenals and hypercortisolism further supports the initiation role of the ectopic receptor in pathophysiology of AIMAH (73)(74)(75).…”
Section: Molecular Mechanisms Of Aberrant Receptorsmentioning
confidence: 88%
“…The V1-vasopressin receptor is normally expressed in the adrenal cortex and stimulates steroidogenesis modestly in vitro, but this is not detectable in vivo; because of this, it has been proposed that the exaggerated steroidogenic response in these patients represents an increased response via an eutopic receptor, as a result of receptor over-expression and/or more efficient receptor coupling to intracellular steroidogenic pathways (2,45,46). Recently, ectopic expression of V2-and V3-vasopressin receptors was reported in vitro in some AIMAH cases, but the effect of dDAVP, a preferential agonist of V2 receptors, was not studied or did not elicit cortisol response in vivo (47,48).…”
Section: Vasopressin-responsive Aimahmentioning
confidence: 99%
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