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

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.206...

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Bibliographic Details
Published in:Journal of clinical research in pediatric endocrinology 2018-03, Vol.10 (1), p.68-73
Main Authors: Çetinkaya, Semra, Güran, Tülay, Kurnaz, Erdal, Keskin, Melikşah, Sağsak, Elif, Savaş Erdeve, Senay, Suntharalingham, Jenifer P, Buonocore, Federica, Achermann, John C, Aycan, Zehra
Format: Article
Language:English
Subjects:
Adrenal glands
Adrenal Insufficiency - diagnosis
Adrenal Insufficiency - genetics
Adrenal Insufficiency - metabolism
Care and treatment
Case Report
Case studies
Child, Preschool
Children & youth
Congenital diseases
Deficiency diseases
Diagnosis
Female
Gallbladder diseases
Genes
Genetic aspects
Hair
Hormones
Humans
Hypoglycemia
Kinases
Melanocyte stimulating hormone
Mutation
NMR
Nuclear magnetic resonance
Obesity
Obesity - diagnosis
Obesity - genetics
Obesity - metabolism
Peptides
Physiological aspects
Pituitary gland
Pro-opiomelanocortin
Pro-Opiomelanocortin - deficiency
Pro-Opiomelanocortin - genetics
Pro-Opiomelanocortin - metabolism
Risk factors
Skin
Thyroid gland
Tıp
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Description
Summary: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.
ISSN:1308-5727
1308-5735
DOI:10.4274/jcrpe.4638