hrp0084p2-250 | Diabetes | ESPE2015

Recombinant Human IGF1 Treatment in Patients with Insulin Receptor Mutations Resulting in Donohue Syndrome: A 10-Year Experience in a Tertiary Centre

Improda Nicola , Katugampola Harshini , Shah Pratik , Gordon Hannah , Amin Rakesh , Peters Catherine J , Semple Robert K , Dattani Mehul T

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Previous reports demonstrate a role for recombinant human IGF1 (rhIGF1), however optimal treatment strategy remains unclear.Case series: Four males with DS have been treated with bolus rhIGF1 (see table below). They had no IGF1 response on an IGF1 generation test. No long-term side effects of rhIGF1 were repor...

hrp0097fc9.1 | Diabetes and insulin 2 | ESPE2023

Reference values for the insulin response to glucose challenge enable the early detection of emerging (pre)diabetes in children and young adults with obesity

Stein Robert , Vogel Mandy , Stanik Juraj , Kratzsch Jürgen , Stumvoll Michael , Blüher Matthias , Kiess Wieland , Körner Antje

Background: The course of type 2 diabetes is more severe among children with obesity than among adults. Therefore, children at high risk for glycemic deterioration should be detected early enough to guide preventive (and interventional) clinical management.Methods: We established age- and puberty-specific reference values for 7 different indexes addressing the insulin response during oral glucose tolerance testing upon 4...

hrp0095ha1 | Development of Anorexigenic and Glucoregulatory Chimeric Peptides | ESPE2022

Development of Anorexigenic and Glucoregulatory Chimeric Peptides

Roth Christian , Salameh Therese , Kamat Varun , Milliken Brandon , Doyle Robert , Chichura Kylie S. , Sweet Ian , Carmen L. De Cunto , Elfers Clinton

Designing monomeric dual or triple agonists based on glucagon-like peptide (GLP)-1 with glucagon, and/or glucose-dependent insulinotropic polypeptide (GIP) are promising novel approaches for anti-obesity drugs tackling different weight-regulatory pathways, albeit such developments continue to suffer from significant gastrointestinal illnesses. Our own studies have focused instead on the combination of GLP-1 receptor agonists (GLP-1RAs) with neuropeptide Y1- and Y2-receptor (Y1...

hrp0095p1-82 | Fat, Metabolism and Obesity | ESPE2022

Cardiometabolic Health in Adolescents Conceived by Assisted Reproductive Technologies: Preliminary Results from the Munich heARTerY-Study

Langer Magdalena , Vilsmaier Theresa , Kramer Marie , Sciuk Franziska , Kolbinger Brenda , Jakob André , Rogenhofer Nina , Dalla-Pozza Robert , Alexander Haas Nikolaus , Sebastian Oberhoffer Felix

Background: Since its introduction in 1978, assisted reproductive technologies (ART) have been widely used to treat infertility. Worldwide, over 8 million children have been conceived by ART. Literature suggests that ART-adolescents potentially display altered vascular function. However, data concerning the cardiometabolic impact on the vascular function in ART-adolescents is limited. This study aimed to investigate the effects of blood lipids and HbA1c-levels...

hrp0092p1-110 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

References for Testicular Volume Measured by Ultrasound and for Pubic Hair in 6-16 Year-Old Norwegian Boys

Oehme Ninnie B. , Roelants Mathieu , Bruserud Ingvild S. , Madsen André , Eide Geir Egil , Bjerknes Robert , Rosendahl Karen , Júlíusson Pétur B.

Objective: Recent studies have suggested earlier onset of pubertal development in boys. As assessment with orchidometer tends to overestimate true testicular volume (TV), and measurements based on ultrasound (US) have been proposed as a more reliable method, we present US based references in 6-16 year-old Norwegian boys. Our results are compared with data from Europe and the United States (U.S.) in order to establish evidence for an ongoing secular trend in ma...

hrp0089s6.1 | Molecular Mechanisms of Tissue Sensitivity to Glucocorticoids: Potential Clinical Implications | ESPE2018

Cardiomyocyte Glucocorticoid and Mineralocorticoid Receptors Antagonistically Regulate Heart Disease

Oakley Robert H , Cruz-Topete Diana , He Bo , Foley Julie F , Myers Page H , Willis Monte S , Gomez-Sanchez Celso E , Chambo Pierre , Cidlowski John A

Stress is increasingly associated with cardiac disease. Glucocorticoids are primary stress hormones that regulate homeostasis through two nuclear receptors, the glucocorticoid receptor (GR) and mineralocorticoid receptor (MR). Cardiomyocytes express both receptors but little is known concerning their specific and coordinated actions in heart physiology and pathology. To examine the in vivo function of glucocorticoid signaling in the heart, we generated mice with cardi...

hrp0089rfc6.3 | Fat, Metabolism and Obesity | ESPE2018

Effect of the Melanocortin-4 Receptor Agonist, Setmelanotide, on Obesity and Hyperphagia in Individuals Affected by Bardet-Biedl Syndrome

Haws Robert M , Fletty Kristina L , McIntee Thomas J , Green Clayton , Pomeroy Jeremy , Hylan Michelle , Folster Cathy , Davis Elisabeth K , Brady Sheila M , Fiedorek Fred T , Yanovski Jack A

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

hrp0086p2-p269 | Diabetes P2 | ESPE2016

Which Group of Children Achieved the Best Results During Insulin Pump Therapy – Long-term Outcome in Children with Type 1 Diabetes?

Ben-Skowronek Iwona , Piekarski Robert , Wysocka Beata , Bury Anna , Banecka Bozena , Krzewska Aleksandra , Sieniawska Joanna , Kabat Magdalena , Rebowicz Katarzyna , Osiak Wiktoria , Szewczyk Leszek

Background: CSII has some potential advantages and disadvantages for young children. For many young patients, it is easier and more convenient to take multiple daily doses of insulin with CSII than with a syringe or insulin pen.Objective and hypotheses: The growing popularity of type 1 diabetes (DM1) treatment based on continuous subcutaneous insulin infusion (CSII) raises a question of the group of patients that benefit most from the treatment.<p cl...

hrp0084p2-470 | Growth | ESPE2015

Hypomethylation within the Imprinted Dlk1 - Dio3 Domain: a Potential Regulatory Mechanism of Pre and Postnatal Growth

Prats-Puig Anna , Carreras-Badosa Gemma , Bassols Judit , Cavelier Patricia , Magret Agnes , Sabench Cristina , Zegher Francis de , Ibanez Lourdes , Feil Robert , Lopez-Bermejo Abel

Background: Genomic imprinting causes genes to be expressed or repressed depending on their parental origin. The 1-Mb DLK1-DIO3 imprinted domain is located on human chromosome 14. Gene expression along this cluster is regulated by an intergenic differentially methylated imprinting control region (‘IG-DMR’). In mice, altered gene dosage within this cluster is associated with alterations in embryonic and placental growth.Objective and hy...

hrp0084p2-483 | Growth | ESPE2015

Hypermethylation at the Imprinted C19mc Microrna Cluster: A New Link between Maternal Metabolism and Infant’s Growth

Prats-Puig Anna , Carreras-Badosa Gemma , Bassols Judit , Girardot Michael , Carrion Empar , Gehmis Radu , Zegher Francis de , Ibanez Lourdes , Feil Robert , Lopez-Bermejo Abel

Background: Maternal obesity can have long-term consequences for the offspring’s health, including increased risk of type-2 diabetes and cardiovascular disease. The C19MC imprinted locus on chromosome 19q13.4 comprises a cluster of 46 microRNAs, which are usually expressed only in the placenta and from the paternal allele exclusively. Besides its role favouring trophoblast migration, the C19MC locus is deregulated in several human cancers. It is unknown ...