A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make
Journal Title: Journal of Clinical Research in Pediatric Endocrinology - Year 2018, Vol 10, Issue 1
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.
Authors and Affiliations
Semra Çetinkaya, Tülay Güran, Erdal Kurnaz, Melikşah Keskin, Elif Sağsak, Senay Savaş Erdeve, Jenifer P. Suntharalingham, Federica Buonocore, John C. Achermann, Zehra Aycan
Keywords
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- EP ID EP265503
- DOI 10.4274/jcrpe.4638
- Views 191
- Downloads 0
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