ESPE Abstracts

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...