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

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

Division of Diabetes, Endocrinology & Gastroenterology (L5)

Research output: Contribution to journal › Article › peer-review

88 Downloads (Pure)

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.

Original language	English
Pages (from-to)	K1-K7
Journal	European Journal of Endocrinology
Volume	176
Issue number	2
Early online date	22 Nov 2016
DOIs	https://doi.org/10.1530/EJE-16-0776
Publication status	Published - 1 Feb 2017

Access to Document

10.1530/EJE-16-0776

For PURE Dattani_manuscript ResubmissionEctopic ACTH 9 Nov 2016Accepted author manuscript, 96.9 KB

Cite this

@article{d9f9638cd5d94a469db73b6452654704,

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

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.",

author = "Gevers, {Evelien F} and Suzanne Meredith and Pratik Shah and John Torpiano and Catherine Peters and Sebire, {Neil J} and Olga Slater and Anne White and Dattani, {Mehul T}",

note = "{\textcopyright} 2017 European Society of Endocrinology.",

year = "2017",

month = feb,

day = "1",

doi = "10.1530/EJE-16-0776",

language = "English",

volume = "176",

pages = "K1--K7",

journal = "European Journal of Endocrinology",

issn = "0804-4643",

publisher = "Oxford University Press",

number = "2",

}

TY - JOUR

T1 - Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor

AU - Gevers, Evelien F

AU - Meredith, Suzanne

AU - Shah, Pratik

AU - Torpiano, John

AU - Peters, Catherine

AU - Sebire, Neil J

AU - Slater, Olga

AU - White, Anne

AU - Dattani, Mehul T

PY - 2017/2/1

Y1 - 2017/2/1

N2 - 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.

AB - 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.

U2 - 10.1530/EJE-16-0776

DO - 10.1530/EJE-16-0776

M3 - Article

C2 - 27879325

SN - 0804-4643

VL - 176

SP - K1-K7

JO - European Journal of Endocrinology

JF - European Journal of Endocrinology

IS - 2

ER -

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

Abstract

Access to Document

Fingerprint

Cite this