hrp0098t16 | Top 20 Posters | ESPE2024

The importance of genetic diagnosis in obesity - leptin-melanocortin pathway and beyond.

Šket Robert , Kotnik Primož , Slapnik Barbara , Čugalj Kern Barbara , Šenica Ana , Jenko Bizjan Barbara , Tesovnik Tine , Vrhovšek Blaž , Debeljak Maruša , Battelino Tadej , Kovač Jernej

Objective: Determining the cause of early obesity in children is of paramount importance for early and efficient treatment, including novel targeted pharmaceutical treatment options (e.g. MCR4 agonist). Here, we report findings from diagnostic whole exome sequencing of children with obesity, identifying genetic variants both within and outside the leptin-melanocortin pathway associated with obesity. These findings provide valuable insights for informe...