Gevers, EF;
Meredith, S;
Shah, P;
Torpiano, J;
Peters, C;
Sebire, NJ;
Slater, O;
... Dattani, MT; + view all
(2017)
Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor.
Eur J Endocrinol
, 176
(2)
K1-K7.
10.1530/EJE-16-0776.
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Abstract
CONTEXT: Pituitary microadenomas and adrenal tumours are the most common causes for endogenous Cushing syndrome (CS) in children. CASE DESCRIPTION: We describe a two-year old girl with Cushing syndrome due to ectopic pro-opiomelanocortin (POMC) production from an abdominal yolk sac tumor. Cortisol concentrations were elevated but adrenocorticotropic hormone (ACTH) concentrations were equivocal. The use of antibodies specifically detecting ACTH precursors revealed that plasma ACTH precursors were elevated. Additionally, an ACTH assay with a low cross-reactivity for precursors showed low concentrations of ACTH. Immunohistochemistry suggested POMC but not ACTH production by the tumour. CONCLUSION: We describe a yolk sac tumour as a novel source of ectopic POMC production leading to CS in a young girl.
| Type: | Article |
|---|---|
| Title: | Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor. |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1530/EJE-16-0776 |
| Publisher version: | http://dx.doi.org/10.1530/EJE-16-0776 |
| Language: | English |
| Additional information: | Disclaimer: this is not the definitive version of record of this article. This manuscript has been accepted for publication in Eur J Endocrinol (2017), but the version presented here has not yet been copy-edited, formatted or proofed. Consequently, Bioscientifica accepts no responsibility for any errors or omissions it may contain. The definitive version is now freely available at http://dx.doi.org/10.1530/EJE-16-0776 |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1533054 |
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