hrp0092fc7.1 | Diabetes and Insulin Session 2 | ESPE2019

Deployment of a Predictive Model Based on CpG Methylation Haplotypes Analysis on the Insulin Gene Promoter, in a Cohort of Children and Adolescents with Type 1 Diabetes

Kotanidou Eleni P , Mouzaki Konstantina , Chouvarda Ioanna , Koutsiana Elisavet , Kosvyra Alexandra , Giza Styliani , Galli-Tsinopoulou Assimina

Background: Cytosine-guanine(CpGs) sites in molecules identified as methylated or unmethylated; the combination of them in the genetic sequence of an individual includes a methylation haplotype (methyl-haplotype) for a specific locus. The insulin gene promoter(IGP) is highly regulated by methylation mechanisms, which lead to alteration of gene expression.Aim: To identify IGPmethyl-haplotypes among children/adolescents wi...

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 ...

hrp0089rfc13.5 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Pubertal Voice Break: Temporal Relation of Secondary Sexual Characteristics in Healthy Boys

Busch Alexander Siegfried , Hagen Casper P , Sorensen Kaspar , Kolby Nanna , Eckert-Lind Camilla , Juul Anders

Introduction: The clinical hallmark of male puberty is testicular enlargement ≥4 ml. While this initial sign largely depends on central reactivation of the hypothalamic-pituitary-gonadal (HPG) axis along with peripheral follicle-stimulating hormone (FSH) action, the attainment of voice-break, activation of sweat- and sebaceous- glands, acne as well as axillary hair development require testosterone action.Objective: To investigate the tempo...

hrp0089p1-p187 | Growth & Syndromes P1 | ESPE2018

A Novel Deadly Variant in the TP53 Gene Causing Li-Fraumeni Syndrome. The Importance of Clinical Awareness and the Contribution of Molecular Diagnosis in Active Prevention Within Families with Multiple Tumor Incidents at a Young Age

Bothou Christina , Spyridis Georgios P , Papantonatos Dionysios A , Stratakis Constantine A , Papadimitriou Dimitrios T

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

hrp0084p3-746 | Diabetes | ESPE2015

Residual C-Peptide in Paediatric Patients with Type 1 Diabetes

Martin-Frias Maria , Oyakawa Yoko P , Alonso Milagros , Roldan Belen , Alvarez M Angeles , Barrio Raquel

Background: Preservation of C-peptide is important and has become regarded a relevant endpoint as already a quite small residual C-peptide seems to be related to both less acute and late diabetes complications.Objective: To assess the residual C-peptide secretion in pediatric patient with T1D.Method: Cross-sectional study of 157 patients with T1D. We analyzed: age at diagnosis, age at time of study (years), sex, diabetes duration (...

hrp0094p1-6 | Adrenal A | ESPE2021

International practice of therapy monitoring in congenital adrenal hyperplasia – Real World data from the I-CAH registry

Lawrence Neil , Bacila Irina , Dawson Jeremy , Bryce Jillian , Akker Erica van den , Bachega Tania Aparecida Sartori Sanchez , Baronio Federico , Birkebaek Niels Holtum , Bonfig Walter , Claahsen Hedi , Costa Eduardo Correa , Devries Liat , Elsedfy Heba , Guven Ayla , Hannema Sabine , Iotova Violeta , Kamp Hetty J van der , Leon Maria Clemente , Lichiardopol Corina Raducanu , Milenkovic Tatjana , Neumann Uta , Nordenstrom Ana , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Sanctis Luisa De , Thankamony Ajay , Vieites Ana , Yavas Zehra , Ahmed Faisal , Krone Nils ,

Aim: Recommendations for the management of Congenital Adrenal Hyperplasia (CAH) outline a target 17-OH Progesterone (17OHP) of 12-36nmol/l, but do not specify target concentrations for Androstenedione (D4). We aimed to study the temporal variations of these biomarkers in patients from different geographical regions.Method: This retrospective multi-centre study, including 21 centres (14 countries), analysed serum biomarke...

hrp0092p1-197 | Fat, Metabolism and Obesity (1) | ESPE2019

You are What You Eat: Preliminary Evidence of Associations Between Dietary Habits and Oral Microbiota Composition in Early Childhood

Henderson Mélanie , Nicolau Belinda , Van Hulst Andraea , Simoneau Gabrielle , Barnett Tracie A. , Drapeau Vicky , Tremblay Angelo , Mathieu Marie-Eve , Paradis Gilles , Zappitelli Michael , Varin Thibaut , Marette André

Background: Oral microbiota composition and diversity differ between obese and non-obese individuals. However, the associations between lifestyle habits (implicated in the pathogenesis of obesity) and the oral microbiota remain uncertain, particularly among children.Objective: To explore the associations between oral microbiota diversity and lifestyle habits among 8-10 year-old children.Met...

hrp0094p1-44 | Sex Endocrinology and Gonads A | ESPE2021

Adolescents and young adult men with non-syndromic hypospadias: testicular function and in-depth genetic screening

Tack Lloyd , Spinoit Anne-Francoise , Riedl Stefan , Springer Alexander , Tonnhofer Ursula , Hiess Manuela , Weninger Julia , Mahmoud Ahmed , Tilleman Kelly , Laecke Erik Van , Hoebeke Piet , Juul Anders , Albrethsen Jakob , De Baere Elfride , Verdin Hannah , Cools Martine ,

Background: Hypospadias affects approximately 1/200 newborn males. Based on the testicular dysgenesis syndrome hypothesis, some may be suspected of having persistent testicular dysfunction later in life. Few clinical data currently support this hypothesis.Methods: Cross-sectional assessment of hypospadias cases (n = 193) and controls (n = 50), aged 16-21 years, recruited at Ghent University Hospital and...

hrp0092p1-57 | Fat, Metabolism and Obesity | ESPE2019

Put Your Money Where Your Mouth is: Preliminary Evidence that Oral Microbiota Diversity may Shape Later Cardiometabolic Health in Children

Henderson Mélanie , Nicolau Belinda , Van Hulst Andraea , Simoneau Gabrielle , Barnett Tracie A. , Drapeau Vicky , Tremblay Angelo , Mathieu Marie-Ève , Paradis Gilles , Zappitelli Michael , Varin Thibaut , Marette André

Background: Emerging evidence suggests a link between the intestinal microbiota and cardiometabolic outcomes in both children and adults. The oral microbiota is less studied, and the association between the oral microbiota and cardiometabolic health in childhood remains largely unknown.Objective: To explore the associations between oral microbiota diversity measured at 8-10 yr and cardiometabolic health in childhood and ...

hrp0095p1-250 | Diabetes and Insulin | ESPE2022

The Metabolic Syndrome is frequent in Children and Adolescents with Type 1 Diabetes Compared to Healthy Controls

Barrett Mørk Freja , Otto Broby Madsen Jens , Ascanius Pilgaard Kasper , Kryger Jensen Andreas , Klakk Heidi , Tarp Jakob , Bugge Anna , Heidemann Malene , Van Hall Gerrit , Pociot Flemming , Wedderkopp Niels , Johannesen Jesper

Background: There is a rise in overweight and obesity among children and adolescents with type 1 diabetes (T1D) in parallel with a rise in the metabolic syndrome (MS) among children and adolescents in general.Objective: The aim of the study was to describe the prevalence and characteristics of the MS in children and adolescents with T1D compared to their healthy counterparts.Design and Sett...