ABSTRACT

Conclusions:

In our study, 8.5% (n=4) sequence variant was found in children who were examined with suspicion of monogenic obesity. In these cases, obesity developed in the first year of life and at least one parent had obesity. Therefore, if early-onset obesity is accompanied by a family history of obesity, MC4R defect, one of the monogenic obesity forms, should be considered in differential diagnosis.

Results:

47 obese cases (20 girls, 39 pubertal, mean age 14.3±3.2 years) were included in the study. Pathogenic variant in MC4R was detected in three cases, and heterozygous variant in LEPR, was not accepted as a pathogen variant in the database in one case. The frequency of sequence variants in the MC4R gene was 6.4%, and the frequency of the sequence variants in the LEPR gene was 2.1%.

Materials and Methods:

The demographic, clinical and biochemical data of the patients had molecular genetic analysis with a pre-diagnosis of monogenic obesity in our clinic between 2016 and 2018 were retrospectively analyzed and recorded.

Introduction:

Monogenic forms of obesity have an important place in the genetic causes of severe and early-onset obesity. In this study, it was aimed to evaluate the clinical and molecular genetic analysis results of the cases followed up with a prediagnosis of monogenic obesity in our clinic.