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

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

  • Publication Type: Article / Article
  • Volume: 10 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.4274/jcrpe.4638
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.68-73
  • Keywords: Obesity, melanocortin 4 receptors, paediatric obesity, proopiomelanocortin deficiency, EARLY-ONSET OBESITY, POMC-NULL MUTATION, RED HAIR, HOMOZYGOUS MUTATION, PIGMENTATION, HUMANS, GENE, FEATURES, HORMONE, LEPTIN
  • Ankara University Affiliated: No

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.