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

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

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.10, sa.1, ss.68-73, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10 Sayı: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jcrpe.4638
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.68-73
  • Anahtar Kelimeler: 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 Üniversitesi Adresli: Hayır

Özet

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.