ESPE Abstracts

Context: Optimal levels of 25-OH-Vitamin D (25OHD) for children are unknown. Prevalent population levels of 25OHD are likely to be sub-optimal since sun exposure is reduced in modern living.Objective: To deduce recommended levels of 25OHD by testing, in children, the level at which 25OHD optimally effects calcium, phosphate and parathyroid hormone levels in a population-based data.Design:</...

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: Abnormalities in the hypothalamo-pituitary-gonadal axis have been reported in Noonan syndrome (NS) males but few data are available in female patients. Objective: The aim of this retrospective study was to evaluate the gonadal function of female patients with NS and to look for genotype-phenotype correlations. Patients and Methods: The study population included 19 girls/adolescents with a genetically confirmed diagnosis of NS and with available cli...

Background: Congenital hyperinsulinism (CHI) is a rare disorder, which causes persistent and severe hypoglycaemia in infants and children. CHI can be treated with glucagon, but long-term use is challenging owing to its instability in aqueous solution. Dasiglucagon, a stable glucagon analogue designed for long-term use as a subcutaneous continuous infusion, is in clinical development. Here, we present dasiglucagon safety results in participants treated for up t...

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...

Background: Germline mutations in SDHB gene are associated with the familial paraganglioma (PGL) syndrome that carries the highest malignant potential. Although penetrance is lower than initially described, lack of effective treatments for metastatic PGLs makes screening essential for early tumour detection, surgical removal and improved outcome. However, no consensus exists in relation to timing and mode of screening.Objective: To assess publis...

Background: The BoneXpert method for automated determination of bone age from hand X-rays is based on machine learning, so it lends itself naturally to be improved by adding more training data and using better learning algorithms. Currently, version 2 is running in 145 hospitals across Europe, and a new version 3 is rolled out in 2019.Objective and Hypotheses: The aim was to validate version 3 against manual ratings in r...