hrp0098t18 | Top 20 Posters | ESPE2024

DNA methylation level at five specific CG-sites within TRAK1 correlates with the neurocognitive profile in individuals with Klinefelter syndrome.

Bandsholm Leere Tallaksen Helene , B. Johannsen Emma , Berletch Joel , Deng Xinxian , Filippova Gala , H. Gravholt Claus , Disteche Christine , Just Jesper , Skakkebæk Anne

Background: Klinefelter syndrome (47,XXY; KS) influences neurodevelopment, resulting in a neurocognitive profile with a more pronounced impact on verbal IQ compared to performance IQ. Additionally, KS is linked to changes in the epigenome and transcriptome. The relation between these epigenetic and genetic changes and the neurocognitive phenotype has yet to be determined.Methods: We conducted a comprehensive and integrat...

hrp0089fc3.1 | Diabetes and Insulin 1 | ESPE2018

Neonatal Diabetes Owned to Potassium Channel Mutation: Response to Sulfonylureas According to the Genotype

Garcin Laure , Fauret Anne-Laure , Cave Helene , Polak Michel , Beltrand Jacques

Introduction / aim: Neonatal diabetes owned to potassium channel mutation can be successfully treated by sulfonylureas (SU). No study has reported SU efficiency according to the genotype.Method: Review of literature conducted in accordance with the control criteria of Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA). Search engine used: PubMed and the Cochrane Library database. Selection of clinical report, case reviews and met...

hrp0089rfc13.1 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Risk of Long-Term Endocrine Sequelae in Survivors of Progressing Childhood Optic Pathway Glioma (OPG) Treated by Upfront Chemotherapy: Preliminary Analyses of 102 Subjects from the French Multicentric BB-SFOP Registry

Hippolyte Helene , De Carli Emilie , Pellier Isabelle , Delion Matthieu , Rakotonjanahary Josue , Rialland Xavier , Coutant Regis

For the brain tumor committee of SFCE (Société Française des Cancers de l’Enfant).Objective: Therapeutic approach favors chemotherapy as the first-line-treatment in progressing OPG. There are few data on long term endocrine outcomes of aggressive OPG treated by upfront chemotherapy. Our main objective was to describe the long-term endocrine sequelae in these patients and to identify potential early predictors of the endocrine involvem...

hrp0086rfc3.4 | Pituitary | ESPE2016

Children and Adolescents with Severe TBI can Develop Late Pituitary Dysfunction Independently of the Results of the First Pituitary Evaluation

Dassa Yamina , Claire Personnier , Helene Crosnier , Mathilde Chevignard , Marie Bourgeois , Magali Viaud , Michel Polak

Background: Traumatic brain injury (TBI) is common in childhood and can induce pituitary defects. Long-term endocrine consequences are missing.Objective and hypotheses: To determine in a prospective way if pediatric patients with a personal history of TBI developed long term pituitary deficiency independently of the results of the early hormonal investigation.Method: Prospective follow-up of an initial cohort of subjects (0–15...

hrp0086rfc9.6 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Emerging Pitfalls of Etiological Diagnosis of Diabetes in Children and Adolescents? Analysis of a French Cohort of 310 Recent-Onset Cases

Bismuth Elise , Plat Helene , Chevenne Didier , Chantelot Christine Bellane , Carel Jean-Claude , Tubiana-Rufi Nadia

Background: A diagnosis of diabetes in children used to mean type 1 diabetes (T1D) and lifelong insulin therapy. However, over the last decades the spectrum of diabetes has widened and even if auto immunity remains the most prevalent etiology, confounding factors and overlap with other causes of diabetes types sometimes make a revision of the initial diagnosis necessary.Objective and hypotheses: To classify diabetes etiologies in youth with diabetes usin...

hrp0086p1-p39 | Adrenal P1 | ESPE2016

Chronic Adrenal Insufficiency Due to a Mutation of Nicotinamide Nucleotide Transhydrogenase 1 (NNT1): Case Report

Lefevre Christine , Derquenne Helene , Ister Marielle , Weill Jacques , Gueorguieva Iva , Stuckens Chantal , Cartigny Maryse

Background: Congenital adrenal insufficiency represents a life-threatening condition. Among its multiples causes, mutation of NNT1 is the most recently discovered. We had the opportunity to observe one case. NNT1 is a gene coding for a membrane protein which protects cells from oxidative stress.Objective and hypotheses: As few cases have been published until now, we describe a new case.Results: In a consanguineous (second grade) Al...

hrp0086p2-p499 | Fat Metabolism and Obesity P2 | ESPE2016

Multidisciplinary Care Management of Pediatric Obesity and Factors Associated with Better Outcomes

Thibault Helene , Carriere Caroline , Cabaussel Cassandre , Bader C , Barberger-Gateau Pascale , Barat Pascal

Background: RePPOP Aquitaine (network of prevention and treatment of pediatric obesity in southwest France) has developed a multidisciplinary approach to treat childhood obesity based on multicomponent lifestyle interventions and family-based actions.Objective and hypotheses: This study assessed the impact of the care management proposed by RePPOP Aquitaine and investigated factors associated with better outcomes.Method: The impact...

hrp0086p2-p529 | Fat Metabolism and Obesity P2 | ESPE2016

Insulin Resistance Correlates to Cognitive Fatigue Dimensions in Non-diabetic Obese Children

Barat Pascal , Meiffred Marie-Claire , Brossaud Julie , Corcuff Jean-Benoit , Thibault Helene , Capuron Lucile

Background: Alterations in endocrine functions and low-grade systemic inflammation represent fundamental characteristics of obesity. These biological systems have been repeatedly linked to fatigue symptoms.Objective and hypotheses: The aim of the study was to assess the relationship between fatigue symptoms and metabolic/inflammatory markers in a sample of non-diabetic obese children.Method: The study was conducted in 41 obese (med...

hrp0082lbp-d3-1008 | (1) | ESPE2014

Long-Term Impact of Childhood-Onset Type 1 Diabetes: Social Insertion, Quality of Life, Sexuality

Mellerio Helene , Guilmin-Crepon Sophie , Jacquin Paul , Alberti Corinne , Levy-Marchal Claire

Background: Little is known about the long-term social outcome of diabetic children.Objective and hypotheses: This study aimed to describe social and professional life, quality of life (QOL) and sexuality at adult age of children and adolescents with type 1 diabetes (T1D).Method: Participants (n=388, age=28.5±3.1 years; duration of diabetes=17.0±2.7 years, recruited from a French national register) completed a qu...

hrp0084p2-512 | Pituitary | ESPE2015

Pituitary Function after Mild to Severe Traumatic Brain Injury in Children 2–18-Years-Old: A Prospective Study

Braun Karine , Briet Claire , Toussaint Patrick , Trifunovic Helene Bony , Boudailliez Bernard

Background: In recent years, traumatic brain injury (TBI) has been identified as a significant cause of pituitary dysfunction in children. Paediatric prospective studies are rare especially for mild TBI.Objective and hypotheses: The aim of this present study was to evaluate the frequency of hypopituitarism after mild, moderate and severe TBI in hospitalized children, and determining factors of this deficiency.Method: A prospective ...