hrp0082p1-d2-10 | Adrenals & HP Axis | ESPE2014

An Unusual Presentation of Isolated ACTH-Deficiency Secondary to TBX19 Mutation Revealed by Late Onset Hypoglycemia Seizure

Valentin Cecile , Saveanu Alexandru , Beltrand Jacques , Netchine Irene

Background: Congenital isolated ACTH deficiency (IAD) is a rare inherited disorder that is clinically and genetically heterogeneous. Patients are characterized by low or absent cortisol production secondary to low plasma ACTH despite normal secretion of other pituitary hormones and the absence of structural pituitary defects. Mutations in the TBX19 gene, a T-box factor selectively expressed in developing corticotroph cells, have been identified so far only in cases of neonatal...

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...

hrp0084fc9.6 | Beta cell disorders | ESPE2015

Pharmacokinetics of a New Suspension of Glibenclamide for Use in Young Patients and Infants with Neonatal Diabetes

Beltrand Jacques , Busiah Kanetee , Berdugo Marianne , Treluyer Jean-Marc , Elie Caroline , Polak Michel

Background: Sulfonylurea therapy allows a better metabolic control than insulin in patients with neonatal diabetes secondary to mutation in potassium channel. Its galenic form (tablets) is not suitable for children, as the dosage can’t be easily modulated and as it induces large pharmacokinetics (PK) variations when administer to young children.Objective and hypotheses: To measure relative biodisponibility of a new galenic form of glibenclamide and ...

hrp0084p2-279 | Diabetes | ESPE2015

Dive: A Serious Game for Diabetes Therapeutic Education in Children

Godot Cecile , Lepage Nadine , Jourdon Isabelle , Schmidt Marie-Eve , Maccini Pierre , Polak Michel , Beltrand Jacques

Background: Implementation of type 1 diabetes (T1D) in children is constant from 20 years. In combination with insulin treatment, therapeutic patient education (TPE) is essential to improve care and prognostic. The use of video games as educational support appears suitable for learning in children, innovative, and interesting to respond to the increase in TPE needs in T1D and current economic constraints.Objective and hypotheses: To validate in a proof o...

hrp0089rfc12.6 | Diabetes and Insulin 2 | ESPE2018

AMGLIDIA, a Suspension of Glibenclamide for Patients with Neonatal Diabetes, Long Term Data on Efficiency and Tolerance

Beltrand Jacques , Meyzer Candice , Colas Sandra , Semeraro Michaela , Godot Cecile , Treluyer Jean-Marc , Elie Caroline , Polak Michel

Background: Glibenclamide has proven to be efficient for patients with neonatal diabetes owing to potassium channel mutations. We developed a suspension of glibenclamide (EMA CHMP Authorization February 2018) fitting recommendations of drug administration to allow a precise dosage. We reported it to be practical, efficient and well tolerated after 3 months of use.Objective: To determine long term efficiency and tolerance of a new suspension of glibenclam...

hrp0089p2-p099 | Diabetes & Insulin P2 | ESPE2018

Metabolic Improvement Offered by Medtronic Minimed 640 G Associated to Transient Insulin Perfusion Suspension before Hypoglycemia in Young Patients with Type 1 Diabetes

Al Hage Chehade Ghada , Godot Cecile , Jourdon Isabelle , Lepage Nadine , Eve Schmidt Marie , Polak Michel , Beltrand Jacques

Objective: Fear of hypoglycemia interferes frequently with metabolic control of type 1 diabetes especially in patients under 5 years of age who are at high risk of hypoglycemia and low metabolic control. Medtronic Minimed 640 G insulin pump with Smart Guard technology (suspension of insulin perfusion in predictive hypoglycemia situations) appears to be an adequate system for these patients by reducing the risk of hypoglycemia.Research design and methods:...

hrp0094p2-128 | Diabetes and insulin | ESPE2021

Daily Meal Size Variation Does Not Affect Glycemic Control In T1D Adolescent Patients Equipped With The Closed Loop DBLG1 System

Gimenez Paul , Lachal Sylvain , Tourki Yousra , Franc Sylvia , Charpentier Guillaume , Beltrand Jacques , Le Tallec Claire , Benhamou Pierre-Yves ,

The aim of this study was to assess the impact of meal size on glycemic control for T1D adolescent patients equipped with Diabeloop’s Closed Loop, DBLG1 System[1], based on data from the clinical trial NCT04190277. Among this dataset we isolated 37 adolescents. Only days with ≥70% available CGM data and >50% of time in closed-loop were included in the analysis, resulting in an average duration of 18 days per patient for a total of 668 days of treatment. To asses...

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...

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...

hrp0084p1-65 | DSD | ESPE2015

Subcutaneous Continuous Administration of Recombinant Human Luteinizing and Follicle-Stimulating Hormones is an Effective Treatment for Micropenis During the Mini-Puberty

Stoupa Athanasia , Samara-Boustani Dinane , Flechtner Isabelle , Pinto Graziella , Jourdon Isabelle , Laborde Kathleen , Chevenne Didier , Millischer-Bellaiche Anne-Elodie , Polak Michel , Beltrand Jacques

Background: Early postnatal administration of recombinant human gonadotropins can be an effective way to mimic mini-puberty, and thus increase penile growth in infants with congenital hypogonadotropic hypogonadism (CHH). We report for the first time its efficacy on an infant with partial androgen insensitivity syndrome (PAIS).Objective and hypotheses: To evaluate the benefits of a continuous subcutaneous infusion of recombinant human gonadotropins (CSCI-...