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

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Cetinkaya S., GÜRAN T., Kurnaz E., Keskin M., Sagsak E., Erdeve S. S., ...More

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.10, no.1, pp.68-73, 2018 (SCI-Expanded) identifier identifier identifier


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.