ESPE Abstracts

Introduction: Bardet-Biedl syndrome (BBS) is a rare, pleiotropic, autosomal recessive disorder, with prevalence between 1 in 100,000 – 160,000 in Europe and the USA. It is characterised by 6 cardinal features: rod-cone dystrophy, truncal obesity, cognitive impairment, hypogonadism and genitourinary anomalies, postaxial polydactyly and renal dysfunction, as well as a plethora of secondary features spanning multiple body systems. BBS belongs to a family of ...

Treating short stature in children born small for gestational age (SGA) requires daily growth hormone (GH) injections that are burdensome for patients and caregivers. Results from REAL5 (ongoing randomised, multinational, open-label, controlled, dose-finding phase 2 trial; NCT03878446) indicate that somapacitan (0.24 mg/kg/week) has an efficacy, safety, and tolerability profile similar to daily GH (0.067 mg/kg/day) after 52 weeks of treatment in children born SGA. Predicting G...

Background: Nerve conduction velocity (NCV) abnormalities are considered as early signs of peripheral neuropathy in patients with diabetes mellitus (DM). We investigated which determinants NCV is subject to and how it is related to markers of metabolic control.Methods: We included 51 patients treated at the outpatient clinic of paediatric diabetology because of their type 1 DM and randomly assigned them for a nerve condu...

Responsiveness to recombinant human growth hormone (rhGH) treatment in Turner syndrome (TS) is highly variable. Previous research has characterised genetic variants associated with rhGH response but these only have a minor impact. The relationship of these genetic variants to the blood transcriptome is unknown. The aim of this analysis was to relate unsupervised baseline blood transcriptome and genetic data from TS patients to their phenotype, karyotype and responsiveness to r...

Background: β-thalassemia major (β-TM) is the most common genetically determined chronic hemolytic anemia. Studies reported that patients with β-thalassemia are zinc deficient due to increased utilization of zinc by oxidative stress, increased urinary zinc excretion and sequestration in the liver.The development of abnormal glucose tolerance in β-TM is associated with alteration in oxidant-antioxidant status. Zinc plays an essen...

Background: Young adults with type 1 diabetes (T1D) are exempt from conscript military service due to risk of severe hypoglycaemia and metabolic compromise. Nevertheless, there are patients who volunteer to military service.Aims and objectives: To evaluate the effect of military service on metabolic control and incidence of acute diabetes complications.Methods: Study design: retrospective, comparative analysis. Data of 145 T1D pati...

Background: In humans GRB10 negatively regulates GH and IGF1 signaling predominantly via altering phosphorylation of PI3K/mTOR/AKT and MEK/ERK pathways which relate to both growth and metabolic function. We have previously shown that Grb10 knockdown in Zebrafish results in overgrowth with an increase in length and head size. However the impact on weight in relation to length has not been assessed.Objective: To develop a model t...

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) usually presents early (E-CHI) in the neonatal period, but late presentation (age >1 month) (L-CHI) also occurs. Adverse neurodevelopment is well recognised in both early and late CHI, but differences between both groups are not known.Objective and hypotheses: We examined a cohort of children with E-CHI and L-CHI to test neurodevelopmental outcomes in mid-childhood.<p class="abstex...

Children’s linear growth is a complex process determined by genetic and environmental factors. It is well known that nutrition influences linear growth, but the precise mechanisms by which nutrition interact with height gain was never fully elucidated. In the present lecture, the way by which nutrition affects linear growth will be discussed. Specifically, we will discuss the effect of nutrition on the GH- IGF-1 axis and its local effect on the chondrocytes of the epiphys...