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- Title
Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia.
- Authors
Almeida, Madson Q.; Kaupert, Laura C.; Brito, Luciana P.; Lerario, Antonio M.; Mariani, Beatriz M. P.; Ribeiro, Marta; Monte, Osmar; Denes, Francisco T.; Mendonca, Berenice B.; Bachega, Tânia A. S. S.
- Abstract
Background Although chronic adrenocorticotropic hormone (ACTH) and androgen hyperstimulation are assumed to be involved in the pathogenesis of adrenal myelolipomas associated with poorcompliance 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.
- Subjects
ADRENAL diseases; GENETIC disorder diagnosis; ADRENOCORTICOTROPIC hormone; ADIPOSE tissue tumors; ANDROGENS; GENE expression; MAGNETIC resonance imaging; POLYMERASE chain reaction; TOMOGRAPHY; GENOMICS; DIAGNOSIS
- Publication
BMC Endocrine Disorders, 2014, Vol 14, Issue 1, p1
- ISSN
1472-6823
- Publication type
Article
- DOI
10.1186/1472-6823-14-42