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Article

Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2015

Özen Samim, Özcan Nurhan, Uçar Sema Kalkan, Gökşen Damla, Darcan Şükran

Abstract excerpt

BACKGROUND/AIMS: Loss of function mutations of proopiomelanocortin (POMC) gene results in adrenal insufficiency, early-onset hyperphagic obesity, and red hair. However, neuromotor retardation with POMC deficiency has not been reported before. CASE REPORT: We report a female patient whose initial diagnosis was neurometabolic disease because of motor mental retardation, ataxia, and bilateral hyperintense lesions in...

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Source

Identifiers

PMID: 25503863
DOI: 10.1515/jpem-2014-0324

Genes

POMC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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