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

Semra Çeti̇nkaya | Zendy; Tülay Güran | Zendy; Erdal Kurnaz | Zendy; Melikşah Keskin | Zendy; Elif Sağsak | Zendy; Şenay Savaş Erdeve | Zendy; Jenifer P. Suntharalingham | Zendy; Federica Buonocore | Zendy; John C. Achermann | Zendy; Zehra Aycan | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

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

Author(s) -

Semra Çeti̇nkaya,

Tülay Güran,

Erdal Kurnaz,

Melikşah Keskin,

Elif Sağsak,

Şenay Savaş Erdeve,

Jenifer P. Suntharalingham,

Federica Buonocore,

John C. Achermann,

Zehra Aycan

Publication year - 2017

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.4638

Subject(s) - proopiomelanocortin , melanocortin , medicine , leptin , obesity , leptin receptor , crosstalk , endocrinology , receptor , bioinformatics , biology , physics , optics

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research