ESPE Abstracts

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...

Background: Abnormal growth is a common problem in children. Some children do not respond to growth hormone therapy and alternative treatments selectively targeting the growth plate are needed. High doses of estrogens induce growth plate closure and stop further growth. However, high-dose estrogen treatment may also have severe side effects, including increased risk of cancer and reduced fertility. The expression of estrogen receptors (ER), including GPER-1, has been demonstra...

Background: Congenital adrenal hyperplasia (CAH) is a rare condition characterised by adrenal insufficiency and a life-long risk of adrenal crises. There is a paucity of information on the epidemiology of acute adverse events in this population.Objective: To investigate the frequency, aetiology and consequences of acute adverse events attributed to adrenal insufficiency in CAH.Methods</stro...

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...

Introduction: Following the onset of the COVID-19 pandemic in early spring 2020, there was a need to identify the burden of this infection on people with rare endocrine conditions. The European Registries For Rare Endocrine Conditions (EuRRECa) was launched in 2018 in collaboration with Endo-ERN, ESPE and ESE to support the needs of the wider endocrine community. The project consists of an e-reporting (e-REC) platform that allows monthly reporting of new clini...

Background: WBS is a rare genetic disorder characterized by distinctive facial features, intellectual disability, cardiovascular anomalies, and infantile hypercalcemia.Objective and hypotheses: Majority of WBS cases occur sporadically, only five families with clinically confirmed WBS have been identified by molecular cytogenetic analysis. Here, we report on the three molecular cytogenetically confirmed familial WBS detected in a family with familial shor...

Background: Emerging evidence suggests a link between the intestinal microbiota and cardiometabolic outcomes in both children and adults. The oral microbiota is less studied, and the association between the oral microbiota and cardiometabolic health in childhood remains largely unknown.Objective: To explore the associations between oral microbiota diversity measured at 8-10 yr and cardiometabolic health in childhood and ...

Background: Oral microbiota composition and diversity differ between obese and non-obese individuals. However, the associations between lifestyle habits (implicated in the pathogenesis of obesity) and the oral microbiota remain uncertain, particularly among children.Objective: To explore the associations between oral microbiota diversity and lifestyle habits among 8-10 year-old children.Met...

Background: Dominant mutations in ABCC8 can cause congenital hyperinsulinism (CHI), which is characterised by unregulated insulin secretion.Objective and hypotheses: To understand the molecular basis of medically unresponsive CHI due to dominant ABCC8 mutations.Method: We investigated ten patients with diazoxide unresponsive CHI who required a near total pancreatectomy. DNA sequencing revealed seven dominant heter...

Adrenocortical tumours are a rare disease in the paediatric population, with a higher prevalence in children under 5 years. The aetiology is partially known; in some cases it is related to mutations in the tumour suppressor gene p53 (TP 53). The classical symptoms of the Cushing syndrome are not usually present in children, so we should suspect this disease in children and teenagers with obesity or with slow growth velocity.Methods: We report a case of a...