ESPE Abstracts

Introduction: The annual incidence of severe influenza infections reaches 5 million cases globally. Patients with diabetes mellitus (DM) are known to suffer more severe influenza infections, with increased mortality. Despite vaccination being recommended as standard of care, vaccination uptake rates have remained low for our DM patients. We undertook a quality improvement (QI) initiative to improve influenza vaccination uptake rates in our paediatric DM clinic...

Background: Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects, and chronic otolaryngological disease. Although ependymal cilia, which affect the flow of cerebrospinal fluid in the central nervous system, have much in common with respiratory cilia in terms of structure and function, hydroc...

Introduction: Our study aimed to describe the clinical profile of children with central precocious puberty (CPP) presenting to a single tertiary centre, and to determine the factors that would lead patients and families to pursue treatment with gonadotrophin releasing hormone (GnRH) agonist as well as the predictors of a more favourable final adult height in this cohort.Methods: We conducted a retrospective medical chart...

Background: Disorders of sex development (DSD) are often due to disruption of the genetic programs that regulate gonad development. Some genes have been identified in these developmental pathways such as DAX-1, SOX-9, GATA-4 and others. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Congenital heart disease (CHD) and...

Introduction: Genetic alterations within the cAMP/PKA pathway, including the genes GNAS, PDE11A, PDE8, PRKAR1A/B, and PRKACA, result in a spectrum of adrenocortical disorders. To date, somatic PRKACA variants and germline PRKACA copy number gain have been associated with the development of cortisol-secreting adrenocortical adenomas and bilateral adrenal hyperplasia, respectively. While variants within the PRKAR1A ge...

Background: Primary adrenal insufficiency (PAI) in children is an uncommon condition. Diagnosis is usually challenging especially in resource limited settings where facilities for antibodies and genetic testing are constrained. Many genetic etiologies have been reported in children with PAI due to congenital adrenal hyperplasia (CAH) and Allgrove syndrome are the commonest identified genetic causes to date in Sudan. Studies from Africa are rare and here we des...

Flash glucose monitoring is now included in the Portfolio of Services of the Public Health System of Andalusia in Spain. We enrolled 145 paediatric T1D diabetes patients into a prospective, interventional study of the impact of the FreeStyle Libre system on HbA1c levels in this population, as well as additional measures of glycemic health, such as Time in Range (TIR) and Time Below Range (TBR). Subjects were trained in use of the FreeStyle Libre system at the start of the stud...

Objectives: We aimed to develop a non-invasive model for the detection of metabolic syndrome (MetS) in school children and adolescents.Methods: Participants were 7,330 children and adolescents aged 10–18 years attending schools in eight Chinese cities. Participants had anthropometry measured by research nurses and underwent fasting blood tests. MetS was defined as central obesity (waist-to-height ratio ≥0.46 f...

Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements o...

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...