A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.
J Clin Res Pediatr Endocrinol
; 10(1): 68-73, 2018 Mar 01.
Article
em En
| MEDLINE
| ID: mdl-28739551
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pró-Opiomelanocortina
/
Insuficiência Adrenal
/
Obesidade
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
J Clin Res Pediatr Endocrinol
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Turquia