Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia

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dc.contributor Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.author ALMEIDA, Madson Q. FMUSP-HC
KAUPERT, Laura C. FMUSP-HC
BRITO, Luciana P. FMUSP-HC
LERARIO, Antonio M. FMUSP-HC
MARIANI, Beatriz M. P. FMUSP-HC
RIBEIRO, Marta
MONTE, Osmar
DENES, Francisco T. FMUSP-HC
MENDONCA, Berenice B. FMUSP-HC
BACHEGA, Tania A. S. S. FMUSP-HC
dc.date.issued 2014
dc.identifier.citation BMC ENDOCRINE DISORDERS, v.14, article ID 42, 5p, 2014
dc.identifier.issn 1472-6823
dc.identifier.uri http://observatorio.fm.usp.br/handle/OPI/7341
dc.description.abstract Background: Although chronic adrenocorticotropic hormone (ACTH) and androgen hyperstimulation are assumed to be involved in the pathogenesis of adrenal myelolipomas associated with poor-compliance patients with congenital adrenal hyperplasia (CAH), the expression of their receptors has not yet been demonstrated in these tumors so far. Methods: We analyzed Melanocortin 2 receptor (MC2R), Androgen Receptor (AR), Leptin (LEP), and Steroidogenic factor 1 (SF1) expression using real-time qRT-PCR in two giant bilateral adrenal myelolipomas from two untreated simple virilizing CAH cases and in two sporadic adrenal myelolipomas. In addition, the X-chromosome inactivation pattern and CAG repeat numbers in AR exon 1 gene were evaluated in the 4 cases. Results: The MC2R gene was overexpressed in myelolipomas from 3 out of 4 patients. AR overexpression was detected in 2 tumors: a giant bilateral myelolipoma in a CAH patient and a sporadic case. Simultaneous overexpression of AR and MC2R genes was found in two of the cases. Interestingly, the bilateral giant myelolipoma associated with CAH that had high androgen and ACTH levels but lacked MC2R and AR overexpression presented a significantly shorter AR allele compared with other tumors. In addition, X-chromosome inactivation pattern analysis showed a polyclonal origin in all tumors, suggesting a stimulatory effect as the trigger for tumor development. Conclusion: These findings are the first evidence for MC2R or AR overexpression in giant bilateral myelolipomas from poor-compliance CAH patients.
dc.language.iso eng
dc.publisher BIOMED CENTRAL LTD
dc.relation.ispartof BMC Endocrine Disorders
dc.rights openAccess
dc.subject Adrenal myelolipoma; Congenital adrenal hyperplasia; ACTH; MC2R; Androgen receptor; Clonality analysis
dc.subject.other 21-hydroxylase deficiency; cag repeats; gene; diagnosis; cancer
dc.title Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia
dc.type article
dc.rights.holder Copyright BIOMED CENTRAL LTD
dc.description.group LIM/42
dc.description.group LIM/55
dc.identifier.doi 10.1186/1472-6823-14-42
dc.identifier.pmid 24884994
dc.type.category original article
dc.type.version publishedVersion
hcfmusp.author ALMEIDA, Madson Q.:HC:LIM/42
hcfmusp.author KAUPERT, Laura C.:FM:
hcfmusp.author BRITO, Luciana P.:HC:LIM/42
hcfmusp.author LERARIO, Antonio M.:HC:LIM/42
hcfmusp.author MARIANI, Beatriz M. P.:FM:
hcfmusp.author DENES, Francisco T.:HC:LIM/55
hcfmusp.author MENDONCA, Berenice B.:FM:MCM
hcfmusp.author BACHEGA, Tania A. S. S.:FM:MCM
hcfmusp.author.external · RIBEIRO, Marta:Fac Ciencias Med Santa Casa Misericordia Sao Paul, Dept Clin Med, Unidade Endocrinol & Metab, Sao Paulo, Brazil
· MONTE, Osmar:Fac Ciencias Med Santa Casa Misericordia Sao Paul, Dept Clin Med, Unidade Endocrinol & Metab, Sao Paulo, Brazil
hcfmusp.origem.id 2-s2.0-84900852609
hcfmusp.origem.id WOS:000336057600001
hcfmusp.publisher.city LONDON
hcfmusp.publisher.country ENGLAND
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dc.description.index PubMed
hcfmusp.citation.scopus 9
hcfmusp.citation.wos 10
hcfmusp.affiliation.country Brasil


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