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Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor.

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. Green open access

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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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