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...

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...

hrp0082p3-d3-792 | Fat Metabolism & Obesity (2) | ESPE2014

Frequency of Vegetable and Fruit Consumption in Overweight Children and Their Parents

Escobar Sandra Beatriz Escobar , Awadalla Shokery

Background: Increased incidence of obesity is related to increased consumption of fast and processed food and decreased consumption of fruits and vegetables.Objective and hypotheses: Evaluate the habit of fruit and vegetable consumption in children with overweight.Method: A questionnaire was designed in which the frequency and quality of these habits were recorded and anthropometric data also. Parent’s habits regarding fruit a...

hrp0092p1-218 | GH and IGFs (1) | ESPE2019

Lessons From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion, Illustrating the Roles of IGF2 and IGF1R in Growth Regulation

Brioude Frederic , Bastaraud Sandra Chantot- , Whalen Sandra , Netchine Irene , Giabicani Eloise

IGF2, a major actor which stimulates feta growth, is located within the imprinted 11p15 region, and 11p paternal duplications are usually associated with Beckwith Wiedemann syndrome, a rare condition usually associated with overgrowth. The IGF type 1 receptor binds both IGF-I and IGF-II to promotes cell proliferation and growth, and the IGF1R gene is located at chromosome 15q. Patients with deletions or mutations of IGF1R usually present with intraut...

hrp0089p2-p115 | Diabetes & Insulin P2 | ESPE2018

Favorable Outcome Despite Prolonged Hypoglycemic Episodes Following a Massive Insulin Overdose: A Case Series

Vollbach Heike , Gohlke Bettina , Schulte Sandra , Woelfle Joachim

Objective: To report on a pediatric case series of massive insulin overdose, its altered pharmacokinetics and the patients favorable outcome.Cases and results: Case 1: 300 IU of insulin aspart were subcutaneously injected into a non-diabetic eight-year-old boy within an extended suicide. After 16 hours he was found unconscious with generalized convulsions. The initial blood glucose concentration was below detection limit. It normalized o...

hrp0086p1-p564 | Perinatal Endocrinology P1 | ESPE2016

Long-Term Effects of Differences in Fetal Environment: Endocrine Influences on Cognitive Function and Personality in Teen Monozygotic Twins

Wimmer Lioba , Woelfle Joachim , Schulte Sandra , Bartmann Peter , Gohlke Bettina

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life.Objective and hypotheses: In a longitudinal study, we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome from birth until after puberty. We propose that differences in birth weight lead to differences in hormone levels with effects on personality and cognitive functi...

hrp0082p3-d2-857 | Growth (3) | ESPE2014

Differences in Personality of Monozygotic Twins can be Predicted by Difference in Birth Weight in Teen Monozygotic Twins

Wimmer Lioba , Woelfle Joachim , Bartmann Peter , Schulte Sandra , Gohlke Bettina

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life. The influence of intrauterine conditions on personality might be underestimated.Objective and hypotheses: In a longitudinal study we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome (ttts) from birth until puberty.Method: 23 pairs of monozyg...

hrp0094p2-395 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Cognitive function and linear growth in Prednisone-treated children with salt-wasting congenital adrenal hyperplasia

Elsayed Shaymaa , Soliman Ashraf , Omar Tarek , Ibrahim Sandra , Elawwa Ahmed ,

Introduction: Congenital adrenal hyperplasia (CAH) is a disorder with a wide spectrum of severity. Impaired cognition has been reported in patients with CAH, although the findings have been conflicting. It has been hypothesized that the major causes of the deficits are prenatal hormonal imbalances and/or excessive glucocorticoid treatment.Objective: The objective of this study was to investigate cognitive function in chi...

hrp0094p2-426 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Uterus agenesia in a patient with CATCH 22 Syndrome. Purpose of a case

Ignacio Diez-Lopez , Mesonero Saray , Maeso Sandra , Sarasua-Miranda Ainhoa

Introduction: The CATCH 22 syndrome or DiGeorge syndrome or velocardiofacial syndrome, is a frequent pathology with the worldwide prevalence estimated between 1 / 2,000 and 1 / 4,000 live births. The classic clinic is characterized by typical facial features (narrow palpebral fissures, bulbous nasal tip, small mouth and ears, malar hypoplasia) with functional insufficiency of the soft palate in about 75% of those affected, difficulties in learning, language and behavior , cong...

hrp0092fc15.6 | Late Breaking Abstracts | ESPE2019

Leptin Influences the Down-Regulation of UCP-1 Expression in Brown Adipose Tissue During Negative Energy Balance

Barrios Vicente , Canelles Sandra , Frago Laura M. , Chowen Julie A. , Argente Jesús

Background: The GH/IGF-I axis is involved in metabolic control and studies suggest that IGF-I deficiency and subsequent changes in IGF-I signaling in brown adipose tissue (BAT) modifies its thermogenic capacity. Food restriction reduces thermogenic capacity in BAT, while leptin stimulates thermogenesis through uncoupling protein 1 (UCP-1) induction. Leptin and IGF-I maintain important crosstalk in different tissues, but whether these two hormones interact to r...