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

[congenital adrenal hyperplasia]

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 .We analyzed Melanocortin 2 receptor (MC 2 R ), Androgen Receptor (AR ), Leptin (LEP ), and Steroidogenic factor 1 (SF 1 ) 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 .The MC 2 R 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 MC 2 R 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 MC 2 R 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 .These findings are the first evidence for MC 2 R or AR overexpression in giant bilateral myelolipomas from poor -compliance CAH patients .