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.
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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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