Back to Search
Start Over
Early-onset severe obesity due to homozygous p.R105W (c313CT) mutation in leptin gene in Turkish siblings: Two cases reports
- Source :
- Obesity researchclinical practice. 15(6)
- Publication Year :
- 2021
-
Abstract
- Congenital leptin deficiency (CLD) is a rare cause of monogenic form obesity due to homozygous or compound heterozygous mutations in the LEP gene. To date, nine pathogenic mutations have been reported. In this study, we present are; an 18-year-old morbidly obese girl and a 14-year-old obese brother, both with homozygous mutation in the LEP gene [p.R105W (c313C> T)] and their data after three years of recombinant leptin treatment. To date, few cases of CLD have been reported in the literature. The cases reported here were siblings who were not diagnosed despite presentation at the clinic due to obesity in childhood, and diagnosis was delayed until adolescence. Clinicians need to consider CLD, a monogenic form of obesity in children with early severe obesity onset, especially if they are the child of a consanguineous marriage.
- Subjects :
- Leptin
Male
Pediatrics
medicine.medical_specialty
Pediatric Obesity
Adolescent
Endocrinology, Diabetes and Metabolism
media_common.quotation_subject
medicine.disease_cause
Compound heterozygosity
Congenital leptin deficiency
Medicine
Humans
Girl
Child
Gene
media_common
Mutation
Nutrition and Dietetics
business.industry
Siblings
medicine.disease
Obesity
Obesity, Morbid
Receptors, Leptin
Female
business
Consanguineous Marriage
Subjects
Details
- ISSN :
- 1871403X
- Volume :
- 15
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Obesity researchclinical practice
- Accession number :
- edsair.doi.dedup.....3cf89581a61ff3e29b9c4753e89d901c