ESPE Abstracts

Background and Aim: A substantial proportion of SGA patients have a syndrome underlying their growth restriction. Most SGA cohorts comprise both syndromic (S-SGA) and non-syndromic patients (nonS-SGA) impeding delineation of the recombinant human growth hormone (rhGH) response. We present a detailed characterization of the Belgian SGA cohort and analyze rhGH response based on adult height (AH).Patients & Methods: Cli...

Background: Osteoporosis is a complex disorder, influenced by both environmental and genetic factors. Primary osteoporosis is a rare early onset disorder with high morbidity and mortality. Wnt signaling pathway has been shown to be involved in the regulation of bone remodeling.Case: Native Argentinean boy born from a consanguineous family with history of retinal detachment in the maternal line. Delivered at term, birth weight 2900 g (−0.95 SDS), bi...

Background: Primary Ovarian Insufficiency (POI) and infertility are common concerns of female Childhood Cancer Survivors (CCS) and are known to impact their quality of life. Increased availability of fertility preservation techniques mandate a better understanding of risk factors for POI in this population.Objective and hypotheses: To describe the prevalence of and risk factors for POI in a cohort of adult CCS.Method: Cross-section...

Background: Central hypothyroidism (CeH) is a rare thyroid hormone deficiency due to an insufficient stimulation of a normal thyroid gland. Candidate genes for isolated CeH include TSHβ, TRH receptor (TRHR) or IGSF1 genes while the combined pituitary hormone deficits (CPHDs) are the consequence of defects in embryonic pituitary transcription factors or in the prokineticin receptor 2 (PROKR2).Patients series: Here we report nine males (M) and 15 fema...

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

Background: Recently, a national database has been developed to register yearly data from all children detected with CAH in the neonatal screening program from 2002 onwards. So far longitudinal data of 105 children have been registered (roughly 65% of Dutch CAH patients) to evaluate medical treatment and long-term effects in CAH. A national CAH work group developed guidelines for diagnostics and follow up in CAH.Objective and hypotheses: Aim of our curre...

Background: Obesity represents one of the most challenging public health problems of our century. According to the World Health Organization, there is a need to create reliable monitoring and behavioral systems, and to investigate their effectiveness in preventing childhood obesity.Objective: To evaluate the BigO behavioral indicators in a pediatric population in Greece.Methodology: The study was c...

Background: Since December 2019, the world has witnessed a global pandemic due to SARS-CoV-2 coronavirus (COVID-19), which has led to lifestyle changes as a result of Public Health Regulations and Guidelines introduced by governments worldwide.Objective: To determine the body mass index (BMI) trajectory in children and adolescents with overweight and obesity with respect to the COVID-19 outbreak in Greece.<p class="a...

Background: Obesity in childhood and adolescence represents one of the most important public health problems. Over the last decade, the widespread use of personal digital technologies, such as smart mobiles and accelerometers, create new possibilities for collecting bevavioral data objectively.Objective: To evaluate the body mass index (BMI) trajectory after at least one month’s use of the BigO system.<p class="...

Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous group of disorders characterised by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic beta-cells. At least 13 types of MODY have been described in the literature, the most frequent of which are MODY types 1–3. The frequency of different MODY types in children in Russia has not been studied before.<strong...