ESPE Abstracts

Objective: To evaluate musculoskeletal development using pQCT in children with coeliac disease (CD) on gluten free diet (GFD) compared with age and gender matched healthy controls.Method: Prospective cross sectional study. 38 children (18 males) with CD on GFD for a duration of 3.6 years (0.6, 12.5) and 38 age and sex matched healthy controls underwent pQCT at 4, 38 and 66% tibial sites. Bloods were collected in CD children only. Results reported as medi...

Background: The steroidogenic enzyme aromatase is encoded by the CYP19A1 gene. Aromatase activity is required for estrogen biosynthesis from androgen precursors in the ovary and several extragonadal tissues. The role of aromatase and thus estrogens for human biology is best illustrated by disease states, both deficiency and excess which might be caused by genetic disorders.Aim: A novel deletion-insertion mutation spanning from intron 10 to the 3...

Background: Emerging evidence suggests FTO polymorphisms are associated with obesity-related comorbidities including type 2 diabetes (T2DM), hypertension and polycystic ovarian syndrome (PCOS). However association of FTO with other comorbidities such as obstructive sleep apnoea (OSA) in paediatric populations is less clear.Objective and hypotheses: To investigate the prevalence of obesity-related comorbidities according to FTO genotype in an obese paedia...

Background: SHOX encodes a transcription factor implicated in skeletal development. Approximately 70% and ~2.5% of Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) patients, respectively, have a defect in SHOX or its regulatory regions.Objective and hypotheses: i) To perform SHOX mutation screening in a cohort of 585 patients referred with a clinical suspicion of LWD or ISS. ii) To determine which is the <e...

Background: Hyperinsulinaemic hypoglycaemia (HH) can be transient or permanent. Transient HH (spontaneous resolution of HH within few weeks) is associated with intrauterine growth restriction, maternal diabetes, erythroblastosis fetalis etc. Transient HH has not been reported with ABCC8/KCNJ11 mutations, which are the commonest cause of HH.Aim: Molecular characterisation of a novel ABCC8 mutation associated with a transient HH phenotype seen in a family ...

Introduction: Little is known about the effects of puberty suppression (PS) and hormone therapy (HT) on growth and adult height in transgender adolescents. These are topics of interest since height differs between sexes and some transgirls wish to limit their growth. In this longitudinal cohort study, we investigated the influence of PS and HT on growth and the efficacy of growth reduction therapy in transgender girls.Methods:</s...

Aim: Osteogenesis imperfecta (OI) is a genetic disease of extracellular matrix presenting with varying degrees of skeletal fragility. The study aims to evaluate growth and pubertal characteristics of 83 patients with OI.Materials and methods: Patients were classified according to Sillence clinical classification criteria. Demographic data, clinical findings, growth and pubertal characteristics were recorded from medical charts, retrospec...

Introduction: Global variations in epidemiology of type 1 diabetes (T1D) exist worldwide. This study is designed to determine the demographic and clinical characteristics of T1D in the past three decades, and to analyze changing trends in epidemiology over the past 50 years.Methods: Epidemiological and clinical characteristics of 925 patients with T1D were analyzed in three decades between 1991 and 2019. In addition, pre...

Aim: The majority of children born small for gestational age (SGA) demonstrate spontaneous catch-up growth in height by the age of two years; however, approximately 10-15% of SGA newborns are at risk of having subnormal growth and persistent short stature (PSS).Method: We evaluated clinical, anthropometric, and laboratory characteristics of the 86 children with PSS who were born SGA.Results...

Introduction: Steroid profiling in children with congenital adrenal hyperplasia (CAH) is used to monitor the balance between androgen and cortisol metabolites and to decide on the optimal glucocorticoid dosage. Twenty-four hour collection is the gold standard for measurement of steroid metabolites in urine, because steroid production follows a circadian rhythm and is influenced by short-term stress and steroid drugs. For some children, e.g. those who were diap...