ESPE Abstracts

Introduction: The optimal level of 25-OH-Vitamin D in children is not clear since most studies have been performed on adults. Creating normal levels is problematic since the recommended level of vitamin D is based on the effect of vitamin D on other parameters and not upon its level in the population.Methods: This is a "big-data" study in which we analyzed Vitamin D tests from 49,935 children sampled in Clalit He...

We present a 3-year-old boy with massive obesity and hyperphagia. His appetite symptoms were evident from age 3 months, and his parents report he has an insatiable appetite, and seeks food constantly. At presentation to our clinic, his BMI was 37.21 Kg/m² [+ 6.87 SDS]. Sleep apnoea is suspected, for which he is undergoing evaluation. Parents are second cousins. Both parents are moderately obese, but his siblings are normal weight for age. The mother did not have a history...

Background: The BoneXpert method for automated determination of bone age from hand X-rays has always included a determination of the Bone Health Index (BHI) from the cortical thicknesses in the metacarpals.Objective and hypotheses: The aim was to extend this so-called digital X-ray radiogrammetry method into adults, and present reference curves for BHI and three other indices: the metacarpal index, the Exton-Smith index and the volume-per-area (proportio...

Background: The BoneXpert method for automated determination of bone age (BA) from hand X-rays was introduced in 2009, covering the Greulich-Pyle BA range up to 17 years for boys and 15 years for girls.Objective and hypotheses: To present an extension of the BA range of the automated method up to 19 years for boys and 18 years for girls and to validate it against manual rating.Method: The extension was developed based on images fro...

Background: Monogenic diabetes is a type of diabetes resulting from mutations of a single gene that may be spontaneous de novo or autosomal dominant or recessive. Reported incidence is 1-4% and confirmed by molecular genetic testing. Transient neonatal diabetes is usually diagnosed within the first week of life and resolves around 12 weeks. Permanent neonatal diabetes should be considered in all children presenting with diabetes in first month of age, and do n...

Introduction: Italy was the first EU country to be affected by COVID-19 outbreak. The sudden change in everyday life was challenging for children and young people (CYP) who rely heavily on peer connections for emotional and social support. Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To compare the diabetes-specific health-related quality of life (D-HRQOL) of CYP with T1D and their parents...

Background: G6PD deficiency is conventionally affiliated with drug induced oxidative stress, but an association with diabetes mellitus is seldom reported. Hypertriglyceridemia from insulin deficiency can be the cause of severe pancreatitis complicating DKA in children.Case report: A 14-year-old Bulgarian boy, no significant past medical history, hospitalized in Pediatric Surgery Department for abdominal pain, hematemesis insorted during a cruise trip. Re...

Background: X-linked hypophosphatemia (XLH) is caused by mutations in PHEX which increases serum Fibroblast Growth Factor 23 (FGF23) concentrations leading to phosphate wasting and osteomalacia. Burosumab is a recombinant fully human IgG1 monoclonal antibody which selectively inhibits the activity of FGF23. In clinical trials burosumab demonstrated significant clinical improvements in radiological rickets severity, growth, and biochemistry among XLH c...

XLH is the commonest inherited form of rickets. Impaired regulation of fibroblast growth factor 23 (FGF23) due to PHEX gene mutation leads to reduced tubular reabsorption of phosphate (TmP/GFR) and 1,25-dihydroxyvitamin D (1,25(OH)2D) synthesis with hypophosphatemia. Patients show rickets and osteomalacia, bone and muscular pain, stunted growth, and reduced quality of life. We report preliminary data on burosumab therapy in a selected sample of Italian patients.<p class="a...

Objective: Linear growth is impaired in children with type 1 diabetes (T1D) and poor metabolic control. A good metabolic control is a key therapeutic goal to prevent vascular complications but also for ensuring an appropriate anthropometric development during childhood. In this study, we aimed to identify and characterize the effects of glycemic variability on linear growth in children with T1D.Methods: Data from 144 pre...