ESPE Abstracts

Uncontrolled diabetes mellitus is a disease with a wide range of systemic complications. Eye complications may seriously threaten quality of life. Diabetic retinopathy is the most frequent diabetic ocular complication. However, diabetic capilaropathy is a little known condition of diabetic retinopathy. It is an acute optic disc edema and/or macular edema; due to an acute hyperglycaemia.Method: We present a case of a diabetic 14-years-old female with diab...

Objective: To evaluate the pancreatic reserve and metabolic control in our patient diagnosed of type 1 diabetes over the last 20 years.Method: Retrospective cohort study of all patients <15 years, diagnosed in our community between 01/01/1995 and 31/12/2014. Variables: gender, age at diabetes debut, age at study, c-peptide after stimulation with glucagon at debut and 1 month after, HbA1c at debut, 1 month, 1 year, 2 years, 5 and 10 years of debut. Co...

Background: One of the limiting factors in adherence to GH therapy, is satisfaction with the administration device used.Objective and hypotheses: With the emergence of a new biosmiliar GH (BGH) administration device, we will assess the simplicity, ease of use, management and pain perceived by the patients.Method: Prospective through survey caregivers and children treated with BGH at least for 6 months. Signed informed consent was r...

Introduction: As successful rates of haematopoietic stem cell transplantation (HSCT) are on the rise, late endocrine and metabolic effects of these survivors have become more prevalent.Aims: We aimed to characterise the endocrine abnormalities observed following HSCT.Subjects and methods: A retrospective descriptive study in paediatric post-HSCT patients (< 18 years-old) follow...

Background: Liver steatosis (LS) results from ectopic fat deposition and can be present in obesity even at early ages. Similar to insulin resistance, the onset of LS does not seem to depend exclusively upon the severity of obesity and shows a large interindividual variability.Objective: Our objective was to develop a predictive normogram for LS in children and adolescents with obesity ba...

Background: Congenital hyperinsulinism (CHI) is a rare group of genetic disorders resulting in persistent hypoglycemia which can lead to a considerable risk of neurological damage and developmental delay.Aim: To assess the neurodevelopmental outcome in children with CHI.Methods: Thirty-three patients with &Scy;HI aged from 7 to 58 months were included. All subjects underwent clinic...

Background: This case underlines the importance of a newborn screening programme combined with genotyping for confirmation and prognosis of disease severity.Objective and hypotheses: Case presentation of a girl with three CYP21A2 mutations.Method: Girl, born from first uneventful pregnancy per vias naturalis. Birthweight 3200 g, birthlenght 50 cm. Intensive jaundice, start at d3, necessitating phototherapy. Discharged from...

Background: Noonan Syndrome (NS) can overlap clinically and biochemically with growth hormone insensitivity [GHI; short stature (SS), low IGF-I and normal/elevated GH levels]. Mutations in multiple genes regulating RAS/MAPK pathway have been identified in NS including LZTR1 variants. Function of LZTR1 is poorly understood and its role in growth retardation is unknown.Objectives: To functionally characte...

Background: Acquired hypothalamic damage frequently causes obesity (BMI ≥30 kg/m2), often refractory to treatment. The interaction of hormonal, neuronal and psychological factors underlying hypothalamic obesity (HO) remains poorly understood.Methods: In fasted and fed states participants underwent blood sampling (GLP-1, insulin, PYY, ghrelin and glucose), fMRI scanning (viewing food/non-food photographs) and assessment of hunger and sati...

Background: Silver Russell syndrome (SRS) is a rare imprinting disorder with prenatal and postnatal growth retardation and feeding difficulties. The main molecular causes are loss of methylation of the 11p15.5 imprinting control region (H19/IGF2) and maternal uniparental disomy of chromosome 7. Prader-Willi syndrome (PWS) is a complex neurodevelopmental imprinting disorder with neonatal muscular hypotonia, failure to thrive to insatiable appetite, sho...