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Article

Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2017

Ozsu Elif, Bahm Allison

Abstract excerpt

BACKGROUND: Proopiomelanocortin (POMC) protein, encoded by the POMC gene, is the precursor of adrenocorticotropic hormone (ACTH) that is released from the anterior pituitary gland. Homozygous mutations in the POMC gene is associated with hyperphagia, severe and early-onset obesity, adrenal insufficiency, hypopigmentation of the skin and red hair. CASE PRESENTATION: A 9-year-old girl from a consanguineous family...

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Source

Identifiers

PMID: 28915118
DOI: 10.1515/jpem-2017-0064

Genes

POMC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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