hrp0089p2-p115 | Diabetes & Insulin P2 | ESPE2018

Favorable Outcome Despite Prolonged Hypoglycemic Episodes Following a Massive Insulin Overdose: A Case Series

Vollbach Heike , Gohlke Bettina , Schulte Sandra , Woelfle Joachim

Objective: To report on a pediatric case series of massive insulin overdose, its altered pharmacokinetics and the patients favorable outcome.Cases and results: Case 1: 300 IU of insulin aspart were subcutaneously injected into a non-diabetic eight-year-old boy within an extended suicide. After 16 hours he was found unconscious with generalized convulsions. The initial blood glucose concentration was below detection limit. It normalized o...

hrp0084p1-49 | Diabetes | ESPE2015

Can Hypothalamic Obesity be Treated with Stimulants? Follow Up

Denzer Friederike , Lennerz Belinda , Vollbach Heike , Denzer Christian , Wabitsch Martin

Background: Published case reports and anecdotal experience suggest a positive effect of dexamphetamine, a CNS stimulant on impetus and weight in patients with hypothalamic obesity. Based on these observations, patients presenting to our obesity clinic with hypothalamic obesity are offered off-label treatment with dexamphetamine.Method: Between 2010 and 2015, patients starting dexamphetamine treatment were enrolled in a prospective observation study. A r...

hrp0084p2-371 | Fat | ESPE2015

Prevalence and Phenotypic Characterization of MC4R Mutations in a Large Paediatric Cohort

Vollbach Heike , Brandt Stephanie , Lahr Georgina , Wabitsch Martin

Background: The melanocortin-4-receptor (MC4R) plays a key role in body weight regulation. Hypothalamic activation of MC4R reduces food intake and increases energy expenditure. Mutations in the MC4R gene lead to the most common cause of monogenetic obesity. More than 150 different mutations are currently known. Their prevalence in obese subjects differs between 0.2 and 5.8%, depending on ethnicity, age and grade of obesity of the analysed cohort. Impact on phenotype a...

hrp0089fc7.6 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

TSH-Resistance and Remaining Low-T4 in Former Low-Birthweight Infants – A Study in Monozygotic Twins with Intra-Twin Birth-Weight-Differences

Schulte Sandra , Woelfle Joachim , Bartmann Peter , Schreiner Felix , Panou Evangelia , Vollbach Heike , Gohlke Bettina

Background: Low birth-weight (bw) and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. However, very little is known about the impact on thyroid function.Objective and hypotheses: We observed genetically identical twins with intra-twin bw-differences from birth until adolescence to objectify the impact of a lower bw on development and health in later life.Method: Bw-difference of...

hrp0097rfc12.6 | Thyroid | ESPE2023

Phenylbutyrate treatment of three patients with Monocarboxylate Transporter 8 deficiency

Zung Amnon , Schreiner Felix , Vollbach Heike , Schweizer Ulrich , Banne Ehud , Braun Doreen

Background: Monocarboxylate transporter 8 (MCT8) deficiency is a rare genetic disease that leads to severe global developmental delay. Thyroid hormone (TH) profile is characterized by high T3 and low T4 levels, with normal or elevated TSH. Recent studies have shown that the chemical chaperone phenylbutyrate (PB) restored mutant MCT8 function and increased TH content in a patient-derived cell model, making it a potential treatment for MCT8 deficiency.<p cla...

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...