hrp0082p1-d3-134 | Fat Metabolism & Obesity (2) | ESPE2014

Can Hypothalamic Obesity be Treated with Stimulants?

Denzer Friederike , Lennerz Belinda , Denzer Christian , Wabitsch Martin

Background: Published case reports and anecdotal experience suggest a positive effect of dexamphetamine on impetus and weight in patients with hypothalamic obesity.Objective and hypotheses: We aimed to observe these effects in our patients who are offered off-label treatment with dexamphetamine.Method: Between 2010 and 2013, patients starting dexamphetamine treatment were enrolled in a prospective observation study. BMI–SDS wa...

hrp0092rfc11.5 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

IGF-1 Serum Concentrations and Growth in Children with Congenital Leptin Deficiency (CLD) Before and After Replacement Therapy with Metreleptin

Beghini Marianna , von Schnurbein Julia , Körber Ingrid , Brandt Stephanie , Kohlsdorf Katja , Vollbach Heike , Lennerz Belinda , Denzer Christian , Wabitsch Martin

Background: Leptin, primarily secreted by adipocytes, is a pivotal signal of the body's energy status and exhibits pleiotropic effects. Homozygous mutations in the leptin gene which result in defective synthesis, release or bioactivity, cause intense hyperphagia and early-onset severe obesity, along with multiple metabolic, hormonal, and immunological abnormalities. In vitro and animal model studies suggest that leptin plays a role in linear growth. So far...

hrp0089rfc6.4 | Fat, Metabolism and Obesity | ESPE2018

Functionality and Phenotypic Characteristics of Mutations in the Human Leptin Receptor

Nunziata Adriana , Funcke Jan-Bernd , Borck Guntram , von Schnurbein Julia , Lennerz Belinda , Moepps Barbara , Gierschik Peter , Fischer-Posovszky Pamela , Wabitsch Martin

Objective: Merge and standardize the scarce data on molecular and phenotypic findings of mutations in the human leptin receptor (LEPR) gene causing a rare form of severe early-onset obesity.Methods: We summarized functional and phenotypic traits of LEPR mutations reported in the literature in a structured and comprehensive manner. Additional data was obtained from 6 subjects of our outpatient clinic not reported so far. Functionality of mutations was ass...