ESPE Abstracts

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 ...

Introduction: Although short stature is common in boys with Duchenne Muscular Dystrophy (DMD), little information on body proportions and the GH/IGF-1 axis exists.Methods: Total height (Ht), sitting height (SH), leg length (LL) and bone lengths (femur, tibia, humerus) in boys with DMD (n=30) and healthy boys (n=79) were measured using DXA digital images by 1 observer. Insulin growth factor-1 (IGF1), IGF binding protein-3 (IGFBP-3) and a...

Background and objective: Given phenotype variability as well as limited utility of conventional endocrine investigations in reaching the diagnosis in a 46,XY patient suspected of a disorder of sex development (DSD), there is an increasingly stronger argument for considering targeted genetic sequencing at an earlier stage of the evaluation process. This study focused on identifying the relationship between clinical examination, endocrine and radiological assessment, as well as...

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: Published studies of radiologically confirmed fractures in sufficiently large cohorts of boys with Duchenne Muscular Dystrophy (DMD) are limited.Objective: To determine the incidence of fractures in a contemporary cohort of 91 boys with DMD managed in all Scottish centres.Method: Radiologically confirmed fractures were classified into vertebral fracture (VF) and non-VF in a retrospective audit of all boys currently mana...

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...

Introduction: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with holoprosencephaly, of which solitary median maxillary central incisor (SMMCI) is the least severe form. Studies have described pituitary abnormalities in up to 40%. We aimed to determine the use of baseline endocrine investigations and MRI brain in assessing endocrine dysfunction.Method: Retrospective casenote ...

Background: Diabetes is the third commonest chronic disease of childhood. When a child or an adolescent is diagnosed with type 1 diabetes (T1D), adaptation to a new life is usually a challenge for the whole family. There are specific challenges posed by T1D on the affected children, and their families, at different developmental age groups. The correlation between HbA1c and age specific psychological challenges, to our knowledge, has not been previously explored in the Middle ...

Background: In the optimal care of children with DSD, it is considered good practice to work within a multidisciplinary team (MDT) and engage in opportunities for professional development.Method: To explore the current models of MDT practice and the extent of professional development in specialist DSD centres, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.<p class="...