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

Evelien F Gevers; Suzanne Meredith; Pratik Shah; John Torpiano; Catherine Peters; Neil J Sebire; Olga Slater; Anne White; Mehul T Dattani

doi:10.1530/EJE-16-0776

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

Eur J Endocrinol. 2017 Feb;176(2):K1-K7. doi: 10.1530/EJE-16-0776. Epub 2016 Nov 22.

Authors

Evelien F Gevers¹, Suzanne Meredith², Pratik Shah^{1

3}, John Torpiano⁴, Catherine Peters¹, Neil J Sebire⁵, Olga Slater⁶, Anne White⁷, Mehul T Dattani^{8

3}

Affiliations

¹ Department of EndocrinologyGreat Ormond Street Hospital for Children, London, UK.
² Division of DiabetesEndocrinology and Gastroenterology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Sciences Centre, Manchester, UK.
³ Section of Genetics and Epigenetics in Health and DiseaseGenetics and Genomic Medicine Programme, UCL Institute of Child Health, London, UK.
⁴ Department of PaediatricsPaediatric Endocrine Service, Mater Dei Hospital, Msida, Malta.
⁵ Department of HistopathologyGreat Ormond Street Hospital and Institute for Child Health (UCL), London, UK.
⁶ Department of OncologyGreat Ormond Street Hospital for Children, London, UK.
⁷ Division of DiabetesEndocrinology and Gastroenterology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Sciences Centre, Manchester, UK Anne.white@manchester.ac.uk m.dattani@ucl.ac.uk.
⁸ Department of EndocrinologyGreat Ormond Street Hospital for Children, London, UK Anne.white@manchester.ac.uk m.dattani@ucl.ac.uk.

PMID: 27879325
DOI: 10.1530/EJE-16-0776

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.

Publication types

Case Reports

MeSH terms

Abdominal Neoplasms / blood
Abdominal Neoplasms / complications*
Abdominal Neoplasms / metabolism
Adrenocorticotropic Hormone / blood
Child, Preschool
Cushing Syndrome / blood
Cushing Syndrome / etiology*
Endodermal Sinus Tumor / blood
Endodermal Sinus Tumor / complications*
Endodermal Sinus Tumor / metabolism
Female
Humans
Pro-Opiomelanocortin / metabolism*

Substances

Pro-Opiomelanocortin
Adrenocorticotropic Hormone