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A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make

Cetinkaya, S; Guran, T; Kurnaz, E; Keskin, M; Sagsak, E; Erdeve, SS; Suntharalingham, JP; ... Aycan, Z; + view all (2018) A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make. Journal of Clinical Research in Pediatric Endocrinology , 10 (1) pp. 68-73. 10.4274/jcrpe.4638. Green open access

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Abstract

Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder with early-onset obesity. Investigation of this entity have increased our insight into the important role of the leptin-melanocortin pathway in energy balance. Here, we present a patient with POMC deficiency due to a homozygous c.206delC mutation in the POMC gene. We discuss the pathogenesis of this condition with emphasis on the crosstalk between hypothalamic and peripheral signals in the development of obesity and the POMC-melanocortin 4 receptors system as a target for therapeutic intervention.

Type: Article
Title: A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make
Open access status: An open access version is available from UCL Discovery
DOI: 10.4274/jcrpe.4638
Publisher version: http://doi.org/10.4274/jcrpe.4638
Language: English
Additional information: © Copyright 2018, Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Science & Technology, Life Sciences & Biomedicine, Endocrinology & Metabolism, Pediatrics, Obesity, melanocortin 4 receptors, paediatric obesity, proopiomelanocortin deficiency, EARLY-ONSET OBESITY, POMC-NULL MUTATION, RED HAIR, HOMOZYGOUS MUTATION, PIGMENTATION, HUMANS, GENE, FEATURES, HORMONE, LEPTIN
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10047095
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