ESPE Abstracts

Background: >There is a wide variation in the reported rate of acute adrenal insufficiency (AI) related adverse events (sick day episodes and adrenal crises) between centres.Objective: Evaluate the level of consensus on the criteria that should be considered ‘essential’ for defining and managing adverse events associated with acute AI in children.Methods: Three groups of ...

Background: Recent studies using data from the International Congenital Adrenal Hyperplasia (CAH) Registry (www.i-cah.org) (1), have provided valuable insight into the determinants of reported acute adrenal insufficiency (AI) related adverse events, demonstrating that the I-CAH Registry can be used as a tool to create clinical benchmarks in CAH care.Methods: Care quality reports were created for 32 centres who participat...

Introduction: Salivary androgens represent a non-invasive marker of puberty that may have utility in population studies as well as in the clinical arena.Objectives: To establish normal reference values of salivary androgens using LC-MS/MS and demonstrate the correlations between salivary androgens and pubertal development in boys.Methods: School-based adolescent cohort study with t...

Background: The need to understand the relationship between bone, muscle, and fat within the bone-muscle unit has recently gained great prominence. Although high resolution (HR) MRI is a non-invasive imaging modality that can provide this information, there is limited expertise in children and young people.Objectives: To establish MRI-based normative data for bone, bone marrow adiposity and muscle adiposity in children a...

Introduction: The degree of consistency between the findings from next generation sequencing (NGS) and detailed endocrine assessment is unclear in boys with XY DSD.Objectives: Examine the range of endocrine and molecular genetic variation in boys undergoing evaluation for XYDSD.Methods: Boys with XYDSD who were evaluated in Glasgow from 2016 to 2018 were included. Sequence variants...

Background: Disorders of sex development (DSD) may be associated with adverse psychosocial and psychosexual outcomes in adults. However, there is a paucity of information on health-related quality of life outcomes in parents and young children with DSD.Objective: To evaluate the use of parent-reported outcome (PRO) questionnaires that can be routinely used in the outpatient setting to assess the impact of DSD on parents ...

Background: The pathophysiological mechanism of skeletal fragility in Duchenne Muscular Dystrophy (DMD) is unclear.Objective: To compare trabecular bone microarchitecture, cortical geometry, muscle area and fat fraction (FF) at distal femur and vertebral bone marrow adiposity (BMA) between DMD and controls.Method: Bone-muscle and muscle FF were assessed using 3T MRI and Dixon technique. BMA was assessed using 1H-MRS. Results expres...

Background: The pathophysiology of the increased fracture risk in Type 1 Diabetes Mellitus (T1DM) remains unclear.Objectives: Perform multimodality assessment to determine the effects of T1DM on bone health and fractures.Methods: Thirty-two children with T1DM at a median (range) age of 13.7 years (10.4, 16.7), and median HbA1c 65mmol/mol (27,100) were recruited. Serum bone alkaline phosphatase (BAP) and c-terminal telopeptide type ...

Background and aim: Metformin is widely used in Type 2 diabetes, with increasing reports of a potential bone protective role. We investigated the role of AMPK in mediating the effects of metformin on mesenchymal stem cell (MSC) differentiation to either osteoblasts or adipocytes.Methods: Confluent mouse MSCs (C3H10T1/2), wild type (WT) and AMPK knockout (KO) mouse embryo fibroblasts (MEFs) were treated with metformin(500 μM), AMPK-activator A769662(...

Background: An increasing need for non-invasive, out-patient based investigations has necessitated a re-evaluation of urinary gonadotrophins (uGn) for assessing puberty.Objective: Prospective evaluation of the relationship between first morning uGn measured by immunoassay and corrected for creatinine (uLH:uCr; uFSH:uCr), and basal serum gonadotropins (sLH, sFSH) and in response to LHRH stimulation test. Prospective evaluation of uGn trend in patients rec...