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https://hdl.handle.net/2440/53951
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dc.contributor.author | Gagliardi, L. | - |
dc.contributor.author | Hotu, C. | - |
dc.contributor.author | Casey, G. | - |
dc.contributor.author | Braund, W. | - |
dc.contributor.author | Ling, K. | - |
dc.contributor.author | Dodd, T. | - |
dc.contributor.author | Manavis, J. | - |
dc.contributor.author | Devitt, P. | - |
dc.contributor.author | Cutfield, R. | - |
dc.contributor.author | Rudzki, Z. | - |
dc.contributor.author | Scott, H. | - |
dc.contributor.author | Torpy, D. | - |
dc.date.issued | 2009 | - |
dc.identifier.citation | Clinical Endocrinology, 2009; 70(6):883-891 | - |
dc.identifier.issn | 0300-0664 | - |
dc.identifier.issn | 1365-2265 | - |
dc.identifier.uri | http://hdl.handle.net/2440/53951 | - |
dc.description.abstract | Cushing's syndrome due to familial ACTH-independent macronodular adrenal hyperplasia (AIMAH) has been reported in small kindreds. In vasopressin-sensitive AIMAH (VPs-AIMAH), VP stimulates an aberrant, ACTH-independent increase in cortisol. The aims of this study were to (i) delineate the preclinical phenotype of VPs-AIMAH in a three-generation kindred (AIMAH-01) and two smaller kindreds (AIMAH-02 and AIMAH-03) and (ii) investigate the aetiology of VP sensitivity in AIMAH-01. Design: Clinical studies of three kindreds for adrenal tumours or early Cushing's and molecular studies of adrenal tumours (AIMAH-01). Patients: Thirty-three individuals, from three kindreds, were screened for perturbations of the hypothalamic-pituitary-adrenal axis or adrenal tumours. Measurements: Patients underwent clinical, biochemical and adrenal imaging investigations. Evaluation included low-dose (1 IU/70 kg) VP stimulation. Adrenal VP receptor (AVPR1A, AVPR1B, AVPR2) expression (AIMAH-01) was assessed using RT-PCR and immunohistochemistry (IHC). IHC for VP was also performed. Results: AIMAH-01 had three siblings with Cushing's, and four individuals with suppressed ACTH/aberrant VP responses and/or adrenal nodules. In AIMAH-02, a father and son were affected. AIMAH-03 had three siblings with Cushing's. RT-PCR showed adrenal overexpression of AVPR1A and AVPR1B. IHC detected AVPR1A. The adrenal tumour from one patient also stained weakly for VP and AVPR2. Conclusion: Adrenal nodules, suppressed ACTH and increased VP sensitivity may represent preclinical disease, allowing early detection, and treatment, of affected individuals. In AIMAH-01, increased VP sensitivity may be due to adrenal VP receptor overexpression. In these kindreds, VPs-AIMAH is familial, and autosomal dominant inheritance is most likely. | - |
dc.description.statementofresponsibility | Gagliardi, Lucia; Hotu, Cheri; Casey, Graeme; Braund, Wilton J.; Ling, King-Hwa; Dodd, Thomas; Manavis, James; Devitt, Peter G.; Cutfield, Richard; Rudzki, Zbigniew; Scott, Hamish S.; Torpy, David J. | - |
dc.language.iso | en | - |
dc.publisher | Blackwell Science Ltd | - |
dc.source.uri | http://dx.doi.org/10.1111/j.1365-2265.2008.03471.x | - |
dc.subject | Humans | - |
dc.subject | Adrenal Gland Neoplasms | - |
dc.subject | Adrenal Hyperplasia, Congenital | - |
dc.subject | Cushing Syndrome | - |
dc.subject | Vasopressins | - |
dc.subject | Receptors, Vasopressin | - |
dc.subject | Pedigree | - |
dc.subject | Gene Expression | - |
dc.subject | Adult | - |
dc.subject | Aged | - |
dc.subject | Middle Aged | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.subject | Adrenocorticotropic Hormone | - |
dc.subject | Young Adult | - |
dc.title | Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreads | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1111/j.1365-2265.2008.03471.x | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Scott, H. [0000-0002-5813-631X] | - |
dc.identifier.orcid | Torpy, D. [0000-0002-5069-0981] | - |
Appears in Collections: | Aurora harvest Surgery publications |
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