hrp0084fc4.2 | Growth | ESPE2015

A Recurrent Homozygous NDUFB3 Mutation, p.Trp22Arg Causes a Short Stature Disorder and Mitochondrial Protein Complex I Deficiency with a Variable Metabolic Phenotype

Murray Philip G , Alston Charlottle L , He Langping , McFarland Robert , Shield Julian PH , Morris Andrew A M , Crushell Ellen , Hughes Joanne , Taylor Robert W , Clayton Peter E

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...

hrp0094fc2.2 | Fat, Metabolism and Obesity | ESPE2021

Phase 3 Trial of Setmelanotide in Participants With Bardet-Biedl Syndrome: Placebo-Controlled Results

Argente Jesus , Clement Karine , Dollfus Helene , Han Joan , Haqq Andrea , Martos-Moreno Gabriel , Mittleman Robert , Stewart Murray , Webster Matt , Yanovski Jack , Yuan Guojun , Haws Robert ,

Background: In a Phase 3 trial in participants with obesity due to Bardet-Biedl syndrome (BBS) and Alström syndrome, setmelanotide was associated with significant reduction from baseline in body weight and hunger at Week 52 (primary endpoint), with outcomes driven by responses in individuals with BBS.Methods: In the same trial (NCT03746522), individuals with BBS or Alström syndrome were randomized and received ...

hrp0095p1-72 | Fat, Metabolism and Obesity | ESPE2022

Energy Drinks: Acute Effects on Central Hemodynamics in Healthy Children and Teenagers. A Randomized Trial.

Li Pengzhu , Mandilaras Guido , Jakob André , Dalla‐Pozza Robert , Alexander Haas Nikolaus , Sebastian Oberhoffer Felix

Introduction: Adolescents are considered the main consumer group of Energy Drinks (EDs). EDs are associated with adverse cardiovascular events, such as severe cardiac arrhythmia or arterial hypertension. Recent studies of our department revealed a significantly increased brachial blood pressure and arterial stiffness after the acute ED consumption in healthy adolescents. Increased central blood pressure is linked with the onset of end-organ damages such as lef...

hrp0095p1-512 | Growth and Syndromes | ESPE2022

Physical Activity: An Underestimated Factor in the Management of Arterial Hypertension in Women with Turner-Syndrome?

Sebastian Oberhoffer Felix , Bačová Martina , Li Pengzhu , Arnold Leonie , Alexander Haas Nikolaus , Dalla-Pozza Robert

Introduction: Turner syndrome (TS) is a rare X-chromosomal disease, which affects one in 2500-3000 female newborns. TS is associated with a distinct cardiovascular morbidity and mortality. Arterial hypertension is present in up to 50% of young TS women and closely related to the onset of aortic dilatation and dissection. The effective management of arterial hypertension can be considered as crucial to improve overall cardiovascular outcome of TS women. In the ...

hrp0092fc12.4 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Integration of Transcriptomic and Epigenomic Data in Childhood Identifies a Subset of Individuals Born Small for Gestational Age (SGA) with "catch-up" Growth Who Become Pre-Hypertensive in Early Adulthood

Garner Terence , Murray Philip , Sellers Robert , Whatmore Andrew , Clayton Peter , Stevens Adam

Background: Children born SGA are known to develop cardiometabolic conditions in adulthood1. Nothing is known about the relationship of the transcriptome (gene expression) and epigenome (DNA methylation) to birth size and the future development of cardiometabolic disease.Aim: To identify, I) differences and functional links between epigenome age-7years, transcriptome age-9years associated and ...

hrp0092fc12.6 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

An Integrated Systems Biology Analysis of the Genome, Epigenome and Transcriptome Identifies a Distinct Pattern of Hypermethylation Associated with Low Childhood Growth

Garner Terence , Sellers Robert , Guo Hui , Whatmore Andrew , Clayton Peter , Stevens Adam , Murray Philip

Background: Current data from genome wide association studies (GWAS) explains 24.6% of the variation in adult height from 3290 single nucleotide polymorphisms (SNPs)1. Data on the genetic control of growth velocity during childhood is more limited and no previous studies have linked childhood growth to changes in the transcriptome (gene expression) or epigenome (DNA methylation). Here we present a systems biology approach to understand mid-child...

hrp0092rfc4.6 | Fat Metabolism and Obesity Session | ESPE2019

Appetite Suppressing Effects of Glucoregulatory Peptides Devoid of Nausea

Doyle Robert P. , Elfers Clinton T. , Milliken Brandon T. , Sweet Ian , Roth Christian L.

Few treatments for type 2 diabetes (T2D) and obesity achieve meaningful long-term weight-loss and are often accompanied by nausea and vomiting. Thus, there is a critical need for a new generation of obesity medications that provide glycemic control with enhanced hypophagic response without nausea. Our group has developed and tested two new monomeric chimeric peptides against a novel target for obesity treatment concomitant with T2D in the form of dual agonism of the anorectic ...

hrp0092t9 | Top 20 Poster | ESPE2019

Empagliflozin and GABA Improve β-Cell Mass and Glucose Tolerance in New-Onset Type 1 Diabetes

Daems Caroline , Welsch Sophie , Boughaleb Hasnae , Vanderroost Juliette , Robert Annie , Sokal Etienne , Lysy Philippe

Presently, the autoimmune character of T1D is challenged, but it is indisputable that inflammation plays a key role in its development. We hypothesized that glucotoxicity could contribute to β-cell mass destruction through maintenance of inflammation. Here, we aimed to evaluate, after diabetes onset, the potential of empagliflozin (EMPA) to protect β-cell mass against glucotoxicity, in monotherapy or in association with GABA, tested for its potential to increas...

hrp0092p2-110 | Fat, Metabolism and Obesity | ESPE2019

Pubertal Milestones and Related Hormonal Changes Among Children with Obesity

Stein Robert , Kempf Elena , Gesing Julia , Stanik Juraj , Kiess Wieland , Körner Antje

Background and Objective: Obesity is known to affect pubertal timing. However, existing data are still controversial, observing either delayed or accelerated pubertal onset, especially among boys. Herein, we evaluated pubertal milestones and underlying hormonal changes between lean and obese children.Material and Methods: We examined 13,484 events from 4,855 lean (BMI SDS <1.28) and 1,983 obese (BMI SDS > 1.88) c...

hrp0092p3-266 | Late Breaking Abstracts | ESPE2019

A Novel Mutation of INSR Gene in a Child with Type A Insulin Resistance

Verdecchia Federica , Akcan Nese , Dastamani Antonia , Morgan Kate , Semple Robert , Shah Pratik

Background:Mutations of insulin receptor gene (INSR) lead to a wide spectrum of inherited insulin resistance syndromes. Type A insulin resistance is one of the these syndromes which is inherited autosomal dominant and leads to mild clinical symptoms after puberty.Objective and Hypothesis: To report a novel mutation of INSR gene mutation in a case of Type A insulin resistance who presented with transient neonatal diabetes...