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ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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2/2024
vol. 30
 
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abstract:
Case report

Clinical and molecular characterisation of children with monogenic obesity: a case series

Arun George
1
,
Santhosh Navi
2
,
Pamali M. Nanda
1
,
Roshan Daniel
3
,
Kiran Anand
2
,
Sayan Banerjee
1
,
Inusha Panigrahi
3
,
Devi Dayal
1

  1. Endocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
  2. Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
  3. Genetic Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Pediatr Endocrinol Diabetes Metab 2024; 30 (2): 104-109
DOI: https://doi.org/10.5114/pedm.2024.140934
Online publish date: 2024/07/07
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Introduction
To study the clinical profile and molecular diagnosis of children with severe early-onset non-syndromic monogenic obesity.

Methods
The 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.

Results
The 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.

Conclusions
This 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.

keywords:

early-onset obesity, monogenic obesity, leptin-melanocortin pathway, novel mutations

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