ESPE Abstracts

Type 1 diabetes is one of the most challenging long-term conditions to manage. On an average day the person with diabetes is expected to check their glucose multiple times, plan their dietary intake so that they are able to administer the calculated dose of insulin, via an insulin pump or injection, 15 minutes before the meal. They need to constantly strive for optimal glucose levels but the inherent variability in insulin requirements means that this often results in debilita...

Background: Branchio-oto-renal (BOR) syndrome is a rare inheritable condition affecting the ears, 2nd branchial arch structures and the urinary system. Recognised features include hearing loss, structural defects of the ear, branchial defects, and a variety of renal malformations. Causative genetic variants have been identified as SIX1 and EYA1, accounting for approximately 49% of all cases of BOR syndrome. Short stature has not commonly been described in BOR syndrome, but is ...

Context: The majority of congenital isolated growth hormone deficiency (IGHD) cases are idiopathic.Recent research has shed light on the genetic aetiologies of congenital hypopituitarism. HESX1 and GLI2 are two transcription factors, amongst a cascade of other transcription factors and signalling molecules, involved in the development of the pituitary gland. Mutations in both genes have been shown to cause congenital hypopituitarism with varying phenotypes.</p...

Objective: Metabolic programming occurs during early life and nutritional factors are known to have long-lasting influences on metabolic health. We investigate associations between insulin-like growth factor I (IGF-I), leptin and adiponectin during infancy and metabolic markers in the same children at six years of age.Method: The Swedish longitudinal Halland Health and Growth birth cohort study is population-based, origi...

Introduction: Type 1 diabetes has a major impact on not only the person diagnosed, but also their families/carers. Diabetes control is affected by many factors. Our diabetes patient cohort has a very high level of social burden which we feel impacts significantly on the management of their diabetes.Methods: We performed a retrospective analysis of all young people supported by the Evelina London Children’s Hospital diabetes team in 2017 looking at a...

We report the case of a seven-year-old boy, unicogenised child, born at 33w, PN 1,540 Kg, (APGAR 8-10), hospitalized in neonatology unit for 30 days, invasive respiratory assistance was not necessary. At birth evidence of hypospadias with penile incurvation, oval fossa pervia, corpus callosum agenesis. Normal male karyotype. For positivity to screening for IC (in-situ normal thyroid), started L-Thyroxine therapy. When he was six the phenotype showed broad forehead, down-slant...

Background: Adiponectin is an adipokine related to insulin sensitivity. In adults and older children adiponectin correlates inversely to BMI, insulin resistance, and cardiovascular risk. Less is known about these relationships in early childhood.Objective and hypotheses: To explore the longitudinal development of adiponectin and correlations to early feeding patterns and serum essential fatty acids.Method: 324 term infants were fol...

Background: IGF1 is important for fetal and infant growth and is influenced by nutrition. In young pigs, docosahexaenoic acid (DHA)-enriched food is associated with higher IGF1 levels but studies in human infants are lacking.Aims and objectives: To assess levels of polyunsaturated fatty acids (PUFA) relate to IGF1, birth size and growth during infancy.Methods: The setting was a population-based longitudinal cohort comprising 126 fu...

Background and aims: In an artificial pancreas, the meal management depends on the meal size and time being reported to the system. Because of the delay of insulin action, it is recommended to declare a meal in advance to allow insulin to limit the glycaemic peak. We aim to assess if the post-prandial glycaemic balance improves as meals are reported in advance.Clinical dataset: As part of Diabeloop DBLUS clinical trial (NCT04190277), 37 ...

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...