title: Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor.
abstract: BACKGROUND
  Pituitary microadenomas and adrenal tumours are the most common causes for endogenous Cushing syndrome (CS) in children.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  We describe a yolk sac tumour as a novel source of ectopic POMC production leading to CS in a young girl.
authors.affiliation: Department of EndocrinologyGreat Ormond Street Hospital for Children, London, UK.
authors.forename: Evelien F
authors.initials: EF
authors.lastname: Gevers
authors.affiliation: Division of DiabetesEndocrinology and Gastroenterology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Sciences Centre, Manchester, UK.
authors.forename: Suzanne
authors.initials: S
authors.lastname: Meredith
authors.affiliation: Department of EndocrinologyGreat Ormond Street Hospital for Children, London, UK.|Section of Genetics and Epigenetics in Health and DiseaseGenetics and Genomic Medicine Programme, UCL Institute of Child Health, London, UK.
authors.forename: Pratik
authors.initials: P
authors.lastname: Shah
authors.affiliation: Department of PaediatricsPaediatric Endocrine Service, Mater Dei Hospital, Msida, Malta.
authors.forename: John
authors.initials: J
authors.lastname: Torpiano
authors.affiliation: Department of EndocrinologyGreat Ormond Street Hospital for Children, London, UK.
authors.forename: Catherine
authors.initials: C
authors.lastname: Peters
authors.affiliation: Department of HistopathologyGreat Ormond Street Hospital and Institute for Child Health (UCL), London, UK.
authors.forename: Neil J
authors.initials: NJ
authors.lastname: Sebire
authors.affiliation: Department of OncologyGreat Ormond Street Hospital for Children, London, UK.
authors.forename: Olga
authors.initials: O
authors.lastname: Slater
authors.affiliation: 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.
authors.forename: Anne
authors.initials: A
authors.lastname: White
authors.affiliation: Department of EndocrinologyGreat Ormond Street Hospital for Children, London, UK Anne.white@manchester.ac.uk m.dattani@ucl.ac.uk.|Section of Genetics and Epigenetics in Health and DiseaseGenetics and Genomic Medicine Programme, UCL Institute of Child Health, London, UK.
authors.forename: Mehul T
authors.initials: MT
authors.lastname: Dattani
mesh_terms: D000008:Abdominal Neoplasms / Q000097:blood / Q000150:complications* / Q000378:metabolism; D000324:Adrenocorticotropic Hormone / Q000097:blood; D002675:Child, Preschool; D003480:Cushing Syndrome / Q000097:blood / Q000209:etiology*; D018240:Endodermal Sinus Tumor / Q000097:blood / Q000150:complications* / Q000378:metabolism; D005260:Female; D006801:Humans; D011333:Pro-Opiomelanocortin / Q000378:metabolism*
chemical_list: D011333:Pro-Opiomelanocortin; D000324:Adrenocorticotropic Hormone