Clinical and molecular characterisation of children with monogenic obesity: a case series.
Pediatr Endocrinol Diabetes Metab
; 30(2): 104-109, 2024.
Article
em En
| MEDLINE
| ID: mdl-39026488
ABSTRACT
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.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Receptores para Leptina
/
Obesidade Infantil
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article