ESPE Abstracts

Background: Insulin resistance occurs in a variety of common endocrine disorders including obesity, type 2 diabetes, polycystic ovarian syndrome, and metabolic syndrome. Additionally, rare syndromes exist that result in extreme insulin resistance. These conditions help contribute to our knowledge of the mechanisms of insulin signalling and resistance.Objective and hypotheses: We report a case of a 12 year old female presenting to endocrinology clinic for...

Background: GH response is influenced by genetic polymorphisms, including the rs1024531 polymorphism (A/G) in the promoter region of GRB10, a negative regulator of signaling through the IGF1 receptor. Allele A is associated with borderline lower baseline IGF1 SDS and 1.5-fold higher response to GH compared to allele G in children with GHD (P=0.0006).Objective: To test functional impact of the rs1024531 polymorphism in an in vitro</e...

Introduction: Recently, the impact of glycemic variability in the development of chronic complications of diabetes has been put in question. The gold-standard method to quantify glycemic variability is not well established.Objective: To analyze the relationship between HbA1c and glycemic variability as determined from self-monitoring blood glucose (SMBG) in type 1 diabetes (T1D) pediatric population.Patients/methods: Cross-sectiona...

Background: Obesity is a potential late-effect of therapies for childhood cancer. Reported prevalence rates of obesity in childhood cancer survivors are heterogenous and currently unavailable for children treated according to protocols of the German Society for Paediatric Oncology. Furthermore, risk factors for the development of obesity following childhood cancer remain largely unknown.Methods: From a cohort of n=149 patients followed in a late...

Background: 80–95% of congenital adrenal hyperplasia (CAH) cases are due to mutations in the CYP21A2 gene encoding 21 hydroxylase. The residual activity of the gene defines the clinical form. Routine mutational screening of CYP21A2 defects is shown to effectively support the complex diagnostic and treatment procedure of newborns with CAH.Objective: We aimed to characterise the phenotype of a girl with compound heterozygosity of ...

Background: Obesity has increased drastically in the last few years. It’s well known the connection between intrauterine growth restriction (IUGR) and the development of metabolic syndrome based on the thrifty phenotype. Some studies have proposed that a poor intrauterine environment could lead to the development of chronic conditions later in life, and its believed leptin is involved in this process.Objective and hypotheses: Establish the mean of l...

Background: Leptin is produced by adipocytes and regulates central hunger and satiety sensation. While the central leptin effects are well understood, little is known about the regulation of peripheral leptin production. Clinical data demonstrate that leptin levels are rapidly declining upon fasting, suggesting that leptin secretion is acutely regulated by nutrient availability. Although it has been previously shown that leptin secretion is under control by gl...

Background: 11-oxygenated 19-carbon (11oxC19) steroids, 11ketotestosterone (11KT) and 11βhydroxyandrostenedione(11OHA4) are adrenally derived steroids that rise in congenital adrenal hyperplasia (CAH). Increased 11oxC19 concentrations are associated with markers of poor control of CAH. To date, 11oxC19 concentrations have not been measured in patients with Addison’s disease (AD).Methods: Children with primary ...

Background: Concerns about a child's growth are one of the most common topics parents express during pediatric visits and are a leading cause for referral to a pediatric endocrinologist. For the general pediatric, when short stature is diagnosed, its clinical management remains a challenge.Objective: The aim of the study was to approach and understand the perception from the general pediatrician about short stature,...

Background: Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia (ONH). Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported, however the nature and prevalence of these neurobehavioural impairments remain to be fully understood. The present systematic review aimed to...