hrp0084fc8.4 | Obesity - Basic | ESPE2015

Severe Early-Onset Obesity Caused By Bioinactive Leptin due to a N103K Mutation

Wabitsch Martin , Funcke Jan-Bernd , von Schnurbein Julia , Denzer Friederike , Lahr Georgia , Denzer Christian , Moss Anja , Debatin Klaus-Michael , Gierschik Peter , Farooqi Sadaf , Moepps Barbara , Fischer-Posovszky Pamela

Background: Early-onset severe obesity due to leptin deficiency typically results from a defect of leptin production or secretion due to mutations in the leptin gene. Recently we described a new form of leptin deficiency caused by bioinactivity of the hormone and associated with high circulating leptin levels (New England Journal of Medicine 2015 372 48–54).Method: Serum leptin was measured by ELISA. The leptin gene was seq...