ESPE Abstracts

Background: There is a rise in overweight and obesity among children and adolescents with type 1 diabetes (T1D) in parallel with a rise in the metabolic syndrome (MS) among children and adolescents in general.Objective: The aim of the study was to describe the prevalence and characteristics of the MS in children and adolescents with T1D compared to their healthy counterparts.Design and Sett...

Objectives: Bone mineral density is reduced in children and adolescents with inflammatory bowel disease (IBF). The exact cause of this reduction is not known and is often attributed to corticosteroid use. The aim of the study was to evaluate bone mineral density in children with IBF without previous corticosteroid exposure.Methods: Twelve children aged 8-17years with IBF (8 with Crohn's disease and 4 with ulcerative ...

Background: Decreased bone mineral density (BMD) and increased fracture risk have consistently been observed in type 1 diabetes mellitus (T1DM). The influence of T1DM on BMD seems to depend on gender or patient’s age and to occur early after T1DM diagnosis. The mechanisms of decreased BMD in T1DM patients are still unknown.Objective and hypotheses: To investigate the serum levels of dickkopf-1 (DKK-1), a Wnt signaling inhibitor which decreases bone ...

Context: Non-classic congenital adrenal hyperplasia (NCCAH) diagnosed in childhood, whether treated or untreated, could pose an increased risk of obesity and metabolic derangements in adolescence and early adulthood. Both sustained hyperandrogenism and chronic glucocorticoid therapy may affect body composition. However, little is known about the body composition of subjects with NCCAH and its contribution to the development of adverse metabolic outcomes. <...

Background: People with thalassemia have decreased bone mineral density (BMD). Whereas a growing body of research has demonstrated associations between circulating bone markers and BMD in many conditions, such data in adolescents with alpha-thalassemia who required frequent blood transfusion (BT) are limited.Objective: To evaluate the associations between measures of bone health and serum bone markers in adolescents with...

Background: Genetic defects in the Wnt signaling pathway lead to early-onset osteoporosis (EOOP). Romosozumab is a monoclonal antibody against sclerostin, an inhibitor of the Wnt/ß-catenin pathway. Romosozumab has shown great efficacy in adult osteoporosis, however its effect in patients with Wnt-related EOOP is unknown. In monoallelic loss-of-function WNT1 mutations, romosozumab could potentially stimulate the defective Wnt signaling pathway an...

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...

Background: Isolated growth hormone deficiency is the most common pituitary hormone deficiency, although the majority of cases are idiopathic. The presence of pituitary structural abnormalities may influence growth hormone (GH) deficiency severeness.Objective: Assess the effect of pituitary abnormalities in idiopathic isolated growth hormone deficiency (IIGHD).Methods: We analysed 65 children with IIGHD and pituitary magnetic resso...

Background: Genome-wide association studies have identified more than 60 SNPs associated with BMI. Additional genetic variants, such as copy number variations (CNV), have also been implicated in the pathogenesis of obesity. Recently, the highly polymorphic CNV in the salivary amylase (AMY1) gene has been associated with obesity risk in adults.Objective and hypothesis: To assess the potential association between AMY1 copy number and BMI ...