ArticlePediatric endocrinology, diabetes, and metabolism2024
Clinical and molecular characterisation of children with monogenic obesity: a case series.
Article in Pediatric endocrinology, diabetes, and metabolism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- MC4R-related monogenic obesity in children: insights from 2 cases.Annals of pediatric endocrinology & metabolism · 2026Article
- Molecular Genetic Architecture of Morbid Obesity in Russian Children.Biomedicines · 2025Article
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8 authors.
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Abstract
introductionTo study the clinical profile and molecular diagnosis of children with severe early-onset non-syndromic monogenic obesity.
methodsThe clinical and molecular data (performed using whole exome sequencing) of 7 children with early-onset (< 5 years) non-syndromic monogenic obesity were extracted from the Obesity Clinic files and analysed retrospectively.
resultsThe median (IQR) age at presentation was 18 (10.5-27) months. Of the 7 patients, 5 were boys, 3 had a history of parental consanguinity, and 4 had a family history of severe early-onset obesity. All patients exhibited hyperphagia and showed signs of insulin resistance. Dyslipidaemia and fatty liver were observed in 4. The variants identified in 6 patients included 2 in leptin receptor, and one each in melanocortin 4 receptor, pro-opiomelanocortin, leptin, and neurotrophic tyrosine kinase receptor type 2 genes. Notably, 4 of these variants were novel.
conclusionsThis case series provides valuable insights into the spectrum of genetic mutations associated with non-syndromic monogenic obesity in North Indian children. The findings underscore the significance of next-generation sequencing in identifying the aetiology of severe early-onset obesity.
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