Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency.
Early-onset obesity
Genetics
Hyperphagia
Leptin receptor
Monogenetic obesity
Journal
Molecular and cellular pediatrics
ISSN: 2194-7791
Titre abrégé: Mol Cell Pediatr
Pays: Germany
ID NLM: 101660689
Informations de publication
Date de publication:
03 Nov 2020
03 Nov 2020
Historique:
received:
24
08
2020
accepted:
29
09
2020
entrez:
3
11
2020
pubmed:
4
11
2020
medline:
4
11
2020
Statut:
epublish
Résumé
Rare genetic variations in the leptin-melanocortin signalling pathway can severely impair appetite regulation and cause extreme obesity in early childhood. Our case reports describe the diagnostic and therapeutic procedures in a girl as well as in a non-related boy of non-consanguineous, German parents with severe early-onset obesity, pronounced hyperphagia, and permanent food-seeking behaviour. Excessive weight gain within the first year of life initiated extensive diagnostics without finding a causal diagnosis. Furthermore, a wide range of intensive, interdisciplinary, and behavioural therapies for weight control were unsuccessful. Prior to bariatric surgery, the 18-year-old girl and the 14-year-old boy reached a BMI of 67.7 kg/m Our case report illustrates the urgent necessity of early genetic diagnostics in children with severe early-onset obesity to avoid frustrating and potentially damaging therapies. Thus, genetic examination should precede bariatric surgery. In the future, several pharmacological therapies will be available for some forms of monogenetic obesity.
Sections du résumé
BACKGROUND
BACKGROUND
Rare genetic variations in the leptin-melanocortin signalling pathway can severely impair appetite regulation and cause extreme obesity in early childhood.
CASE PRESENTATION
METHODS
Our case reports describe the diagnostic and therapeutic procedures in a girl as well as in a non-related boy of non-consanguineous, German parents with severe early-onset obesity, pronounced hyperphagia, and permanent food-seeking behaviour. Excessive weight gain within the first year of life initiated extensive diagnostics without finding a causal diagnosis. Furthermore, a wide range of intensive, interdisciplinary, and behavioural therapies for weight control were unsuccessful. Prior to bariatric surgery, the 18-year-old girl and the 14-year-old boy reached a BMI of 67.7 kg/m
CONCLUSION
CONCLUSIONS
Our case report illustrates the urgent necessity of early genetic diagnostics in children with severe early-onset obesity to avoid frustrating and potentially damaging therapies. Thus, genetic examination should precede bariatric surgery. In the future, several pharmacological therapies will be available for some forms of monogenetic obesity.
Identifiants
pubmed: 33140236
doi: 10.1186/s40348-020-00107-3
pii: 10.1186/s40348-020-00107-3
pmc: PMC7606406
doi:
Types de publication
Journal Article
Langues
eng
Pagination
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