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Sustainable Development Goals
03 Saúde e Bem-EstarCollections
- IOC - Artigos de Periódicos [12973]
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WHEN LEPTIN IS NOT THERE: A REVIEW OF WHAT NONSYNDROMIC MONOGENIC OBESITY CASES TELL US AND THE BENEFITS OF EXOGENOUS LEPTIN
Deficiência congênita de leptina
Obesidade monogênica não sindrômica
Metreleptin
LEP
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Affilliation
Abstract
Obesity is a pandemic condition of complex etiology, resulting from the increasing
exposition to obesogenic environmental factors combined with genetic susceptibility. In
the past two decades, advances in genetic research identified variants of the leptinmelanocortin
pathway coding for genes, which are related to the potentiation of satiety
and hunger, immune system, and fertility. Here, we review cases of congenital leptin
deficiency and the possible beneficial effects of leptin replacement therapy. In summary,
the cases presented here show clinical phenotypes of disrupted bodily energy
homeostasis, biochemical and hormonal disorders, and abnormal immune response.
Some phenotypes can be partially reversed by exogenous administration of leptin. With
this review, we aim to contribute to the understanding of leptin gene mutations as targets
for obesity diagnostics and treatment strategies.
Keywords in Portuguese
LeptinDeficiência congênita de leptina
Obesidade monogênica não sindrômica
Metreleptin
LEP
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