ESPE Abstracts

Congenital hyperinsulinism (CHI) is a life-threatening disease and manifests in the majority of cases in the first days after birth. Based on the distribution of affected cells, focal CHI forms are distinguished from diffuse CHI forms. Focal forms occur in most cases due to a paternally inherited heterozygous mutation in a subunit of an ATP sensitive potassium channel (ABCC8, KCNJ11). Within the diagnostic setting, focal forms can be visualized by 18F DOPA PET scan, as a marke...

Background: The methylation of IGF1 promoter P2 was reported to negatively correlate with serum IGF-1 concentration and rhGH treatment response in children with idiopathic short stature. These findings have not yet been confirmed.Objective: This study aimed to determine IGF1 promoter P2 methylation in short children treated with rhGH and correlate clinical parameters with the methylation status. In addition, long-term st...

Background: The anogenital distance (AGD) is a well-known measure in rodents used to distinguish male and female pubs. Likewise, AGD display sex-specific differences in humans. It is considered a postnatal readout of early androgen exposure in fetal life. Thus, in postnatal life AGD is longer in boys than in girls, reduced in infants born with cryptorchidism and hypospadias as well as in boys exposed to anti-androgenic agents in fetal life. However, little is ...

Vitamin D dependency rickets type 1B (VDDR-1B) is a rare condition classified as rickets due to inadequate 25-hydroxylation of vitamin D. In this study, we describe rickets and loss-of-function CYP2R1 mutations in 6/10 individuals tested from two unrelated families. Five patients in family 1 (F1) have homozygous L99P mutations; while one member of family 2 (F2) has novel homozygous mutations at G42_L46del insR. The mutations, as well as another variant M248I found in ...

Background: COVID19 Lockdown resulted in an extreme change in daily lifestyle with a significant increase in weight and loss of quality of life, as well as an increase in the risk of secondary health conditions even in young people. One reason for this is a fatal change in the nutritional situation, especially among adolescents. Convincing models to counter this problem are missing so far. Multiprofessional training programs could reveal an outstanding effect ...

Background: The management of MEN1 in CYP<19 years is challenging due to its rarity, and diverse presentations of its component tumours to several adult and paediatric medical and surgical specialists. There is little high quality evidence for treatment recommendations.Aim: To ensure age- and tumour-specific paediatric and adult teams are involved in co-ordinated discussions to improve high quality care and hence survival and reduce long term morbidi...

Objectives: The obesity in population of children and adolescents is one of the biggest public health problems in word today. Early childhood obesity with cluster of metabolic disorders (insulin resistance, impaired glucose tolerance, dyslipidemia and hypertension) are risk factor for cardiovascular morbidly and mortality later in life. Catestatin is a Chromogranin A derived peptide which reduces hepatic/plasma lipids, plasma insulin, improves insulin sensitivity, reduces hype...

Background: Diabetes mellitus is not characteristic of Beckwith Wiedeman Syndrome (BWS). If anything, BWS is associated with hypoglycaemia secondary to hyperinsulinaemia. A case of permanent neonatal diabetes mellitus and BWS have never been reported from our setting.Objective and hypotheses: To report on a 17 years old boy with BWS diagnosed with permanent neonatal diabetes mellitus at 4 months of age and to determine the molecular genetics study which ...

Background: Childhood obesity is a major global and European public health problem. The need for community-targeted actions has long been recognized, however it has been prevented by the lack of monitoring and evaluation framework, and the methodological inability to objectively quantify the local community characteristics in a reasonable timeframe. Recent technological achievements in mobile and wearable electronics and Big Data infrastructures allow the engagement of Europea...

CRN04777 is an orally administered nonpeptide that is a potent and selective agonist of somatostatin 5 (SST5) receptors and is currently under development for the treatment of congenital hyperinsulinism (HI), the most common cause of persistent hypoglycemia in newborns and infants. Congenital HI arises from mutations within the insulin secretion pathway and is characterized by excessive and/or inappropriate insulin secretion by pancreatic islet beta cells. This excess insulin ...