ArticleBMC endocrine disorders2014
Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia.
Article in BMC endocrine disorders, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 32 citations in OpenAlex.
- Bilateral giant myelolipomas in a female patient with untreated 21-hydroxylase deficiency.JCEM case reports · 2026Article
- Extracellular cyclophilin A promotes B-cell acute lymphoblastic leukemia progression via MC2R.EMBO molecular medicine · 2026Article
- Single-nucleus RNA sequencing reveals the cellular composition and the mechanism underlying adrenal myelolipoma.Endocrine · 2026Article
- Clinical characteristics and surgical management of rare thoracic myelolipoma: experience from a single center with literature review.World journal of surgical oncology · 2025Review
- Rare huge bilateral adrenal myelolipoma confused with retroperitoneal liposarcoma.IJU case reports · 2025Article
- What is the need for adrenalectomy in patients with congenital adrenal hyperplasia in the era of CRF1/ACTH inhibitors?Frontiers in endocrinology · 2025Review
- Giant Bilateral Adrenal Myelolipomas in a Non-Compliant Patient with Congenital Adrenal Hyperplasia.The American journal of case reports · 2024Article
- Evidence of the Role of Inflammation and the Hormonal Environment in the Pathogenesis of Adrenal Myelolipomas in Congenital Adrenal Hyperplasia.International journal of molecular sciences · 2024Article
- Review
- Adrenal myelolipomas.The lancet. Diabetes & endocrinology · 2021Review
- Development of a large adrenal myelolipoma in the context of long-term elevated ACTH.BMJ case reports · 2021Article
- Late diagnosis of classic congenital adrenal hyperplasia: long-term consequences during adulthood.Endocrinology, diabetes & metabolism case reports · 2021Article
- Giant bilateral adrenal lipoma in a patient with congenital adrenal hyperplasia.Endocrinology, diabetes & metabolism case reports · 2021Article
- Androgen receptor signalling in the male adrenal facilitates X-zone regression, cell turnover and protects against adrenal degeneration during ageing.Scientific reports · 2019Article
- Coexistence of Myelolipoma and Primary Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome.Frontiers in endocrinology · 2019Article
- Adrenal myelolipoma(s) as presenting manifestation of subclinical Cushing's disease (eutopic ACTH-dependent Cushing's syndrome).BMJ case reports · 2017Article
- The Role of gsp Mutations on the Development of Adrenocortical Tumors and Adrenal Hyperplasia.Frontiers in endocrinology · 2016Review
- Role of ACTH in the Interactive/Paracrine Regulation of Adrenal Steroid Secretion in Physiological and Pathophysiological Conditions.Frontiers in endocrinology · 2016Review
- Giant myelolipomas and inadvertent bilateral adrenalectomy in classic congenital adrenal hyperplasia.Endocrinology, diabetes & metabolism case reports · 2015Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlthough 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.
methodsWe 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.
resultsThe 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.
conclusionThese findings are the first evidence for MC2R or AR overexpression in giant bilateral myelolipomas from poor-compliance CAH patients.
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