ESPE Abstracts

Background: While differences in gut microbiota between obese and lean subjects have been described, few studies have examined how adiposity across childhood relates to intestinal microbiota composition and diversity in late adolescence.Objective: To explore the correlations between measures of adiposity from childhood and adolescence with intestinal microbiota composition and diversity at 15–17 years.Methods: Data stem from t...

Background: Dietary intake has been shown to influence the composition and diversity of the gut microbiota in adults, however its impact in childhood and adolescence remains uncertain. Moreover, the impact of other lifestyle behaviors such as physical activity, sedentary behaviors, sleep and fitness on the gut microbiota has rarely been investigated.Objective: To explore the correlations between intestinal microbiota composition and meas...

Background: Androgen Insensitivity Syndrome is a common form of 46,XY DSD. In the literature, 85–90% of patients with complete form of Androgen Insensitivity (CAIS) and 30% of patients with parcial form (PAIS) have the AR gene mutation identified, In most cases are found a missense mutation with aminoacid change. Mutations without aminoacid changes (silent mutations) are rarely related to human diseases and have never been identified in patients with CAIS.<p class="ab...

Background: Androgen insensitivity syndrome (AIS) is a genetic disease X-linked, caused by functional abnormalities of the androgen receptor (AR). Mutations in the AR are associated with broad phenotypic spectrum from partial insensibility (PAIS) to complete insensitivity (CAIS).Objective and hypotheses: To characterize the mutations (MUT) identified in the AR in 38 Brazilian families with AIS. The MUT were analyzed considering their type, location in th...

Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of Differences of Sexual Development (DSD) in 46, XY individuals. It is an X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12). Methods: Patients with clinical suspicion of AIS performed hormonal serum measurements (LH, FSH, estradiol, testosterone) and molecular sequencing of the AR gene, including exons and the 5’UTR region. Psychosexual variab...

Introduction: The diagnosis of GHD requires the coexistence of anamnestic, auxological and laboratory data. The latter are burdened by the poor accuracy and adverse effects of the stimulation tests. A recent european audit (Horm Res Paediatr 2019;92(3): 150-156) on GH diagnostic reported as preferred tests in Italy Insulin tolerance test (ITT), glucagon, clonidine, arginine and Arg-GHRH. We conducted a survey to explore which of them are most used in It...

Introduction: Childhood obesity is an international pandemic which affects 13% of Canadian youth, and is the leading cause of cardiovascular disease (CVD) in children. While the optimal approach to treat pediatric obesity remains elusive, comprehensive and intensive behavioral interventions which leverage the child’s living environment in order to promote improvements in healthy lifestyles appear promising. The CIRCUIT program (Centre Pédiatrique d’Intervent...

This presentation provides an overview of genetics relevant to pediatric endocrine nursing practice. A brief genetic primer for nurses will be given followed by discussion of patient and clinician barriers to genetic literacy. Genetic competencies for nursing practice will be reviewed and application will be demonstrated through several pediatric endocrinecase presentations. At completion, participants will be able to incorporate concepts of genetic literacy and apply genetic ...

Background: Daily r-hGH injection has been safely and effectively used in paediatric patients with GHD for more than 30 years. However, little information is available describing the burden and life impacts experienced by paediatric patients related to daily r-hGH injections.Objective: To identify the burden and impacts of a daily r-hGH injection regimen on the lives of paediatric GHD patients.Methods: A retrospective meta-analysis...

Background: Continuous glucose monitoring (CGM) devices are novel tools to measure the impact of dietary intake on glucose rhythms/metabolism in children. There is a significant gap in the literature on glycemic response in healthy, term infants and young children up to 2 years of age.Objective: To investigate glucose excursions in response to infant feeding, using CGM in healthy 6–12-month-old infants.<p class...