Endocrine Abstracts

Contents

• 44th Annual Meeting of the British Society for Paediatric Endocrinology and Diabetes 2016
• • CME Training Day
  • • GH deficiency vs GH insensitivity

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    • Rare forms of Rickets

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• Main Symposia
• • Symposia 1 Fertility
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  • Symposia 2
  • • One gene to 100,000 genomes - the evolution of genetic testing in endocrine disorders

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  • Symposia 3 Complications of Diabetes
  • • Mitigating against future vascular disease. Do statins have a role in children and young people with T1D?

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  • Symposia 4 Living life with Diabetes
  • • Diabetes and an eating disorder - my experience

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    • Diabetes and eating disorders make strange bedfellows: Challenges for young people and clinicians

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• Diabetes Professionals Session
• • Diabetes Professionals Session
  • • Safeguarding and diabetes - social care perspective

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    • Systemic Psychotherapy: an effective tool for treating children and young people diagnosed with Type 1 Diabetes

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    • Lipohypertrophy: Optimising insulin delivery and enhancing self-care behaviours

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• Endocrine Nurse
• • Endocrine Nurse Session
  • • Ipsen BSPED Nurse Prize: Review of the nurse specialist's role in caring for children and young people with Cushing's syndrome

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• Oral Communications
• • Oral Communications 1- CME
  • • Pan hypopituitarism - Is it secondary to brain tumour and its treatment?

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    • Lysinuric protein intolerance: A cause of secondary IGF-I deficiency with raised growth hormone levels and osteoporosis

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  • Oral Communications 2- CME
  • • Dyshormonogenesis secondary to two thyroglobulin gene mutations

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    • A novel mutation in thyroid pathobiology in families with X-linked intellectual disability?

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  • Oral Communications 3- CME
  • • A case of rare type of Rickets with unidentified genetic aetiology

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    • A rare cause of rickets

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  • Oral Communications 4- CME
  • • The clinical utility of Co-peptin measurement in paediatric endocrine practice

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  • Oral Communications 5- Endocrine
  • • Effect of KRN23, a fully human anti-FGF23 monoclonal antibody, on rickets in children with X-linked hypophosphatemia (XLH): 40-week interim results from a randomized, open-label phase 2 study

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    • Functionally significant reductions in white matter in patients with congenital adrenal hyperplasia

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    • Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome

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    • Characteristics of Vitamin D supplementation programs for the prevention of rickets in infants and young children in Europe: Factors influencing compliance

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    • The performance of early childhood Human Chorionic Gonadotrophin (HCG) testing to investigate male undervirilisation

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    • Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant

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    • Frequent occurrence of DUOX2 and DUOXA2 mutations in cases with borderline bloodspot screening TSH who develop 'True' congenital hypothyroidism

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    • Understanding the Utility of Performing Endocrine & Genetic Investigations in Boys with a Suspected Disorder of Sex Development

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  • Oral Communications 6- Endocrine
  • • The intra- and inter-user reliability of testicular volume estimation - a simulation study

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    • Systematic trial of Nifedipine in children with Hyperinsulinaemic Hypoglycaemia due to mutations in the ABCC8 gene

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    • Reversible 5[alpha]-reductase 2 deficiency in Hypothyroidism

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    • Impact of intercurrent illness on calcium homeostasis and hypoparathyroidism management

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    • A novel methodology using high resolution thermal imaging to detect vertebral fractures in children with osteogenesis imperfecta

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    • Predictive factors of an underlying genetic defect in children with short stature and suspected growth hormone insensitivity (GHI)

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    • Early treatment with rhGH in patients with Prader-Willi syndrome results in improved height with no respiratory adverse effects

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    • Outcome of hyperthyroidism diagnosed in childhood and adolescence

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    • A single centre experience of Differences/Disorders in Sex Development (DSD) over 20 years

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  • Oral Communications 7- Diabetes
  • • Hypercholesterolaemia screening in type 1 diabetes - a difference of opinion

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    • The development of an e-learning package to support education staff with the management of type 1 diabetes

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    • SEREN, (structured education: Reassuring empowering nurturing); a new structured education programme for diabetes in Wales, UK

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    • Accuracy and patient experience of the novel flash glucose monitoring system in children and young people with type 1 diabetes mellitus

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    • Establishing a paediatric diabetes sports service

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  • Oral Communications 8- Diabetes
  • • Coeliac disease screening in children with type 1 diabetes mellitus: Is it time for a new approach?

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    • The role of DNA hydroxymethylation in non-alcoholic fatty liver disease

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    • Comparison of Insulin sensitivity measures between overweight and obese children and adolescents of South Asian and White Caucasian ethnicity

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    • Effect of weight loss on Resting Energy Expenditure in pre- and post-pubertal obese children

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    • Biomedical outcomes of weight loss associated with intragastric balloon therapy supported by a life style programme in severe adolescent obesity

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    • Is abuse associated with adolescent overweight and obesity?: A population cohort study

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    • Clarifying the natural history of human insulin receptoropathy

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  • Oral Communications 9- Nurses
  • • A review of junior doctors' knowledge of the management of newborn disorders of sexual development

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    • Autonomy, self-injection and adherence in patients on GH treatment

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    • Managing overweight and obese children and young people in a district general hospital in England

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• Poster Presentations
• • Adrenal
  • • Assessment of parental knowledge of the management of acute illness in children on long-term steroids

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    • Assessment of staff knowledge of the management of acute illness in children on long term steroids in a large DGH offered Tertiary Paediatric Endocrine services

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    • Rationalising the number of cortisol assays in our low dose synacthen test

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    • Misleading biochemical picture in infants prior to the confirmatory diagnosis of Congenital Adrenal Hyperplasia (CAH)

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    • Reviewing the protocol for the standard short synacthen test

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  • Bone
  • • Awareness of Vitamin D supplementation guidelines among the junior doctors at University Hospital of Wales, Cardiff

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    • Craniosynostosis in a case of nutritional rickets

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    • Denosumab therapy for hypercalcaemia of malignancy in a young child

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    • The use of Bone Health Index standard deviation score (BHI-SDS) in the analysis of cohorts with constitutional delay of growth (CGP), Growth Hormone deficiency (GHD), Turners syndrome (TS) and congenital adrenal hyperplasia (CAH)

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    • Chubby cheeks: could it be cherubism?

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  • CME
  • • Early administration of asfotase alfa in a newborn with perinatal hypophosphatasia

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  • Diabetes
  • • Identifying the barriers to effective diabetes 'transitional care'. A qualitative study of patient satisfaction and experiences of transition

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    • Practical Elements for Successful Recruitment of Patients and Families with Newly Diagnosed Type 1 Diabetes (T1DM) into a Research Study

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    • Identifying the barriers to diagnosing type 1 diabetes in young people in the primary care setting

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    • Severe acute renal failure requiring dialysis in children with diabetic ketoacidosis

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    • An Audit of the Paediatric Diabetes Out Of Hours Advice Service using the Best Practice Tariff Criteria

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    • Acute surgical abdomen masquerading as diabetic ketoacidosis

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    • Hypoglycaemia - are children carrying the right sugars?

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    • It's all about the HbA1cs but don't forget the LFTs…

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    • Acute mononeuropathy as a first presentation of Type 1 Diabetes Mellitus

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    • Efficacy and uptake of an education clinic integrated into an MDT clinic for children with type 1 diabetes

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    • Structured education and competency in adolescents and families with type 1 diabetes mellitus (T1DM)

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    • Unusual presentation of a rare netabolic disorder in an adolescent with T1D with recurrent DKA and steatohepatitis

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    • A case of Mauriac Syndrome

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    • Management of Paediatric Diabetic Ketoacidosis: An Audit

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    • Ensuring complete data for the national paediatric diabetes Audit - An Approach Using Python

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    • Audit of screening investigations and delay in referral for children with newly diagnosed type I diabetes

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    • Lessons learnt from a case of childhood obesity with Hyperosmolar Hyperglycaemic state (HHS) and severe acidosis

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    • Audit on metabolic effect of insulin pump therapy vs. pen for children with Type 1 Diabetes

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    • A case of neonatal Diabetes: Diagnostic and management challenges

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    • Introducing Dedicated Annual Review Clinics for Children with Type I Diabetes Mellitus in Gloucestershire: Results from a two-year service improvement and evaluation

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    • Emergency advice for families of children with diabetes - the story of a helpline

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    • Does increase in funding and service provision improve outcomes of patients with diabetes? An evaluation of HbA1c in paediatric patients with diabetes at Peterborough City Hospital

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    • Continuous Subcutaneous Insulin Infusion results in better glycaemic control and reduced insulin requirements in CFRD: Report of 2 cases in children

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    • Assessing the impact of a youth worker on diabetes care in adolescents with type 1 diabetes

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    • A critical review of type 1 diabetes new patient education programme at a single tertiary centre

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    • The highs and the lows: Glycaemic control and socio-economic factors in paediatric patients with type 1 Diabetes in Blantyre, Malawi

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    • Introduction of an intensive outpatient education programme is acceptable to parents of children, and young people with newly diagnosed type 1 Diabetes

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    • Management of diabetes in a refugee child- the challenges

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    • High HBA1c pathway for children and young people with poor glycaemic control: process and outcomes

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    • The seven wonders of diabetes: An audit of the NICE key age specific care processes

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    • An audit on the outcomes of care in paediatric diabetes

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  • Gonadal, DSD and reproduction
  • • Extending the clinical utility of urinary gonadotrophin estimation in turner syndrome

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    • Co-existence of congenital adrenal hyperplasia and bartter's syndrome due to maternal uniparental isodisomy of HSD3B2 and CLCNKB mutations

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    • 5-alpha reductase deficiency: insights into the diagnosis and management of a rare condition

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  • Miscellaneous/other
  • • Blood pressure monitoring and management in young girls with turner syndrome

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    • Longitudinal changes in bone density and body composition in post-pubertal adolescents treated with GnRH analogues in a Gender Identity Development Service

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    • Ketotic hypoglycaemia in children with transient congenital hyperinsulinism of infancy

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    • Vitamin D status of healthy, low-income, kurdish children in Sulaimani city and Kalar district of Iraqi Kurdistan

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    • Hyperinsulinaemia: Demographics of cases in a district general hospital over a 5 year period

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    • Altered islet architecture in congenital hyperinsulinism in infancy

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    • Enhanced islet cell neogenesis and endocrine cell differentiation are pathognomonic with congenital hyperinsulinism in infancy

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    • Vineland adaptive behaviour scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI)

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    • The profiles of insulin secretory granules are markedly different in [beta]-cells of patients with either focal or diffuse Congenital Hyperinsulinism in Infancy (CHI)

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    • Flash glucose monitoring in children with congenital hyperinsulinism; first report on accuracy and patient experience

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    • Doubtful efficacy of Sirolimus in the treatment of patients with severe congenital hyperinsulinism

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    • New histological characterisation of focal lesions and clinical implications

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    • Assessing impact of the provision of accessible information to families with Congenital Hyperinsulinism (CHI)

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    • Generalised lipodystrophy as a rare presentation of a hypothalamic tumour

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  • Obesity
  • • Association between waist circumference and family history of cardiovascular disease in a group of overweight/obese children and adolescents

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  • Pituitary and growth
  • • Clinical characteristics of Cornelia de Lange Syndrome due to an HDAC8 mutation

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    • To treat, or not to treat? - Growth Hormone (GH) deficiency in a 12 year-old boy

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    • Novel compound heterozygous mutation in ASXL3 causing bainbridge-ropers syndrome and primary IGF1 deficiency: Expanding phenotype

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    • Trends in growth hormone prescription in the UK: Results from the 3 year National Growth Hormone Audit

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    • Normal final height in late presenting girls with Turner Syndrome (TS)

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    • Changes in Height and IGF-I SDS in the first year of GH treatment are related to BMI SDS

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    • A mutation in eukaryotic translation initiation factor 2 subunit 3 (EIF2S3) associated with a novel syndrome of X-linked hypopituitarism and glucose dysregulation

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  • Thyroid
  • • Thyrotoxicosis: A rare paediatric endocrine manifestation of chromosome 2q37 deletion

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    • Congenital hypothyroidism in vein of galen malformation patients

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    • Levothyroxine therapy associated with idiopathic intracranial hypertension (IIH)

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