Context: Congenital leptin deficiency is a very rare cause of severe early-onset obesity. We
recently characterized a mutation in the leptin gene (p. D100Y), which was associated with …

Congenital leptin deficiency is a rare, but treatable, cause of severe early-onset obesity. To
date, two United Kingdom families of Pakistani origin carrying a frameshift/premature stop …

Congenital leptin deficiency is a rare recessive genetic disorder resulting in severe
hyperphagia and early onset obesity. It is caused by mutations in the LEP gene encoding …

Mutations in the gene encoding leptin (LEP) typically lead to an absence of circulating leptin
and to extreme obesity. We describe a 2-year-old boy with early-onset extreme obesity due …

Monogenic forms of childhood obesity due to mutations in the leptin gene | Molecular and
Cellular Pediatrics Skip to main content Advertisement SpringerLink Account Menu Find a …

Background Early childhood obesity is a public health problem worldwide. It affects different
aspects of physical and mental child's health. Identifying the etiologies, especially treatable …

Objective: Leptin, a protein product of adipocytes, plays a critical role in the regulation of
body weight, immune function, pubertal development, and fertility. So far, only three …

Congenital deficiency of the leptin receptor is a very rare cause of severe early-onset
obesity. To date, only 9 families have been reported in the literature to have mutations in the …

We have previously demonstrated that genetically based leptin deficiency due to a missense
leptin gene mutation in a highly consanguineous extended Turkish pedigree is associated …

Hormone absence or inactivity is common in congenital disease, but hormone antagonism
remains controversial. Here, we characterize two novel homozygous leptin variants that …