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Article

Unexpected endocrine features and normal pigmentation in a young adult patient carrying a novel homozygous mutation in the POMC gene.

The Journal of clinical endocrinology and metabolism - 1 Dec 2008

Clément Karine, Dubern Béatrice, Mencarelli Monica, Czernichow Paul, Ito Shosuke, Wakamatsu Kazumasa, Barsh Gregory S, Vaisse Christian, Leger Juliane

Abstract excerpt

CONTEXT: Proopiomelanocortin (POMC) is the precursor to five biologically active peptides, including ACTH produced in the anterior pituitary and alpha-MSH produced in the hypothalamus. Mutations that inactivate the POMC gene have been described in children, causing a pleiotropic syndrome that includes secondary hypocortisolism, severe obesity, and variable changes in skin and hair pigmentation. OBJECTIVE: We...

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Identifiers

PMID: 18765507
DOI: 10.1210/jc.2008-1164
PMCID: PMC2729235

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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