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...

hrp0086fc5.4 | Management of Disorders of Insulin Secretion | ESPE2016

Persistent Beneficial Metabolic Effect after Five Years in a Cohort of 28 Subjects with Neonatal Diabetes owing to Potassium Channel Mutation and Transferred from Insulin to Sulfonylureas

Hoarau Marie , Fauret Anne-Laure , Busiah Kanetee , Godot Cecile , Colas Sandra , Treluyer Jean-Marc , Scharfmann Raphael , Cave Helene , Polak Michel , Beltrand Jacques

Background: Sulfonylureas (SU) have proven to be effective in patients with monogenic diabetes owing to potassium channel mutation. They allow the discontinuation of insulin and a good metabolic control. Long-term data arguing for a persistent beneficial effect of SU are missing.Objective and hypotheses: SU provide a good metabolic control maintained over time in patients with neonatal diabetes.Method: From a French cohort of 34 pa...

hrp0086rfc5.6 | Management of Disorders of Insulin Secretion | ESPE2016

Clinical Management of the Mitchell-Riley Syndrome Due to RFX6 Gene Mutations: Aggressive Support Results in Improved Outcome

Poidvin Amelie , Chandra Vikash , Fauret-Amsellem Anne-Laure , Cave Helene , Beltrand Jacques , Tubiana-Rufi Nadia , Carel Jean-Claude , Polak Michel , Scharfmann Raphael

Background: Homozygous mutations in the transcription factor RFX6 are the cause of the Mitchell-Riley syndrome associating neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis, duodenal atresia, and severe chronic diarrhea. Nine cases have been reported so far and the condition has a poor prognosis with five of nine patients died before the age of 6 months.Objective and hypotheses: To report on the clinical management and outcome of tw...

hrp0086rfc5.4 | Management of Disorders of Insulin Secretion | ESPE2016

“Transient” Neonatal Diabetes In Adulthood: Metabolic Outcomes

Busiah Kanetee , Baz Baz , Lebourgeois Fleur , Djoudi Malek Ait , Bachere Nadege , Bourron Olivier , Ythier Hubert , Pouvreau Nathalie , Bellanne-Chantelot Christine , Vialettes Bernard , Gourdy Pierre , Hartemann Agnes , Robert Jean-Jacques , Cave Helene , Polak Michel , Gautier Jean-Francois

Background: “Transient” Neonatal Diabetes Mellitus (TNDM) is a rare genetic beta cells dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Glucose homeostasis had not been investigated in adulthood.Objective and hypotheses: To investigate insulin secretion and insulin sensitivity in adults affected with TNDM or in their 1st degree mutated relatives.</p...

hrp0082fc9.6 | Beta cells | ESPE2014

Sulfonylurea Therapy Corrects Hypotonia, Attention Deficits, Improves Complex Neuropsychological Functions and Motricity in Patients with Neonatal Diabetes Secondary to Mutation in Potassium Channel Subunits, Through a CNS Effect

Beltrand Jacques , Vaivre-Douvret Laurence , Busiah Kanetee , Fournier Emmanuel , Boddaert Nathalie , Vera Myriam , Bahi-Buisson Nadia , Bui-Quoc Emmanuel , Ingster-Moati Isabelle , Flechtner Isabelle , Simon Albane , Scharfmann Raphael , Cave Helene , Elie Caroline , Polak Michel

Background: Sulfonylurea therapy (SU) allows a better metabolic control than insulin in patients with neonatal diabetes secondary to mutation in potassium channel subunits (ND-K). Most of these patients have neurological and neuromotor developmental impairments whose changes under SU has not been studied in a systematic and prospective way in a large cohort.Objective and Hypotheses: To demonstrate the beneficial effect of SU on neuropsychological functio...

hrp0092p1-50 | Fat, Metabolism and Obesity | ESPE2019

Two-year Outcomes of Whanau Pakari: A Novel Home-based Intervention for Child and Adolescent Obesity

Anderson Yvonne , Wynter Lisa , O'Sullivan Niamh , Wild Cervantée , Grant Cameron , Cave Tami , Derraik José , Hofman Paul

Background: Whilst multi-disciplinary intervention models for children and adolescents with obesity remain recommended best practice, there is a lack of long-term outcome data, especially in home-based models and programs embedded within the clinical setting. Whānau Pakari is a community-based multi-disciplinary assessment/intervention programme for child obesity, focused on reducing health inequity. Based in Taranaki, Aotearoa/New Zealand, it focusses on...

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...