ESPE Abstracts

Introduction: Congenital Adrenal Hyperplasia (CAH) is the commonest cause of Disorder of Sex development (DSD). It is a group of autosomal recessive disorders caused by deficiency of enzymes involved in synthesis of cortisol, aldosterone or both. The combination of hypocortisolism, hyperandrogenism and adrenal medullary hypofunction due to the disease and side effects of steroids treatment may make these individuals more prone to develop cardiovascular disorders including impa...

Introduction: Fractures have been recorded in up to one third of children who have suffered from physical abuse. The British Paediatric and Adolescent Bone Group (BPABG) position statement on vitamin D states that the level of 25 hydroxyvitamin D is not relevant to causation of fractures unless there is radiological or biochemical evidence of rickets. Clinicians are often asked in the court setting about the relevance of abnormal serum investigations in children who have fract...

Introduction: The overall age-adjusted incidence of type 1 diabetes (T1DM) varied from 0.1/100,000 per year in China and Venezuela to 36.8/100,000 per year in Sardinia and 36.5/100,000 per year in Finland. This represents a 350-fold variation in the incidence among the 100 populations Worldwide. In the early 1990s, T2DM it was representing about 3 percent only of pediatric diabetes in the United States, but by 2003, T2DM reached about 20 percent of pediatric diabetes.<p cl...

Background: Wolcott-Rallison syndrome (WRS) is a rare recessively inherited disorder characterized by insulin-dependent diabetes and multiple epiphyseal dysplasia. The disease is also characterized by recurrent episodes of hepatitis or hepatic failure, growth retardation and developmental regression. WRS is caused by biallelic mutations in EIF2AK3, encoding the eukaryotic translation initiation factor-2 kinase 3 (IEF2AK3). EIF2AK3 regulates the synthesis of u...

Background: A substantially reduced fluid replacement regimen was introduced in the ‘New’ British Society of Paediatric Endocrinology Diabetes (2015) compared to ‘Old’(2009) guideline for DKA management. However, data on varying fluid replacement regimens is limited and we explored this by comparing outcomes of the 2 guidelines on the resolution of DKA.Methods: In a retrospective audit of consecutively admitted patients (age <18 y...

Introduction: Delayed or absent puberty is thought to be common in boys with Duchenne Muscular Dystrophy (DMD).Objective: To evaluate testicular development, function and puberty in DMD in a 12 months prospective longitudinal study.Methods: Thirty-four boys had assessment of puberty and testes volume by a single endocrinologist. Testes volumes were converted to Z-scores adjusted for bone age. Boys were divided into group A [Baselin...

Introduction: The outcome of hypospadias is considered to be primarily dependent on the underlying aetiology, its surgical management and the duration of follow-up. However, currently, there is little consensus on what set of parameters are essential and clinically feasible for assessment of outcome.Aim: To facilitate the development of a core outcome set for hypospadias by assessment of the range of outcomes reported in boys undergoing surgery.<p cl...

Background: There is little information on growth and fractures in boys with Duchenne Muscular Dystrophy (DMD).Objective & hypotheses: To determine the extent of growth & skeletal morbidity in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were analysed following categorisation into five age groups: A:<5 years (n, ...

Background: Childhood onset growth hormone deficiency (CO-GHD) may contribute to low bone mass and alterations of body composition. However, the mechanisms by which CO-GHD effects bone health are not yet clearly defined.Objective and hypotheses: To evaluate musculoskeletal health in CO-GHD subjects at initial evaluation and retesting after final height.Method: A cross-sectional study of assessing bone health and body composition by...

Background: There is currently no published study evaluating the role of the IGF axis on bone development following anti-tumour necrosis factor (TNF) therapy in Crohn’s disease (CD).Method: Prospective, 12-month study in 19CD(12M) who were clinical responders to antiTNF therapy, median age 14.9 years (range 11.2–17.2). IGF1, insulin growth factor binding protein 3(IGFBP3), acid labile subunit (ALS), bone-specific alkaline phosphatase (BALP) and...