Endocrine Abstracts

Contents

• Speaker Abstracts
• • CME TRAINING DAY
  • • Bone physiology or calcium and phosphate metabolism

      ea0033cme1
    • Vitamin D and rickets

      ea0033cme2
    • Osteoporosis in children and young people

      ea0033cme3
    • Normal and abnormal variations of growth and puberty: how can the new RCPCH specialist childhood and puberty close monitoring charts help us?

      ea0033cme4
    • Puberty in SGA

      ea0033cme5
    • Precocious puberty

      ea0033cme6
  • MAIN SYMPOSIA
  • • Early intervention on type 1 diabetes

      ea0033pl1
  • Symposia 1 Care and controversies: present and future
  • • Preservation of fertility

      ea0033s1.1
    • Cancer treatment late effects on the endocrine system

      ea0033s1.2
    • SAGhe: GH safety and long term concerns

      ea0033s1.3
  • Symposia 2 Recent advances in CAH management
  • • CaHASE: a UK collaborative study on CAH in adults

      ea0033s2.1
    • Paediatric surveillance for CAH: informing newborn screening policy

      ea0033s2.2
  • Symposia 3 Present and future: novelty and goals
  • • Benefits of diabetes networks and beyond

      ea0033s3.1
    • Screening for diabetes related complications

      ea0033s3.2
    • What are the barriers of implementation to BPT

      ea0033s3.3
  • Symposia 4 Debate: Pump vs MDI in all children with DMT1
  • • Pump therapy in all newly diagnosed T1DM

      ea0033s4.1
    • MDI in all newly diagnosed T1DM

      ea0033s4.2
  • Diabetes Professionals Meeting Programme
  • • NPD implications for practice

      ea0033dp1
    • Implementation of structured education

      ea0033dp2
    • Developing the role of diabetes educator in the UK

      ea0033dp3
    • Psychology: narrative theory

      ea0033dp4
    • Kids in control of food: results from the KICk-OFF randomised controlled trial

      ea0033dp5
    • Transition to adult services

      ea0033dp6
    • How does the The National Paediatric Diabetes Audit help improve outcomes for CYP with diabetes?

      ea0033dp7
  • Endocrine Nurse Programme
  • • Ipsen award 2012: managing children with symptomatic vitimin D deficiency; the role of the clinical nurse specialist

      ea0033en1
    • The advanced nurse practitioner in paediatric endocrinology; the journey and the reality

      ea0033en2
    • Multiple endocrine neoplasia (MEN) an overview

      ea0033en3
    • Not another blood test! Parent/patient experience of MEN

      ea0033en4
• Oral Communications
• • Oral Communications 1
  • • GH testing: reducing the need for a second test for the diagnosis of GH deficiency

      ea0033oc1.1
    • A single centre audit of the 2012 UK Newborn Screening Programme Guidelines for pre-term infants

      ea0033oc1.2
    • The utility of AMH for predicting testosterone response to HCG stimulation in children with suspected DSD

      ea0033oc1.3
    • Abnormal glucose homeostasis in survivors of childhood acute lymphoblastic leukaemia treated with bone marrow transplantation and total body irradiation is associated with reduced [beta]-cell reserve and pancreatic volume

      ea0033oc1.4
    • Novel genes affecting the timing of puberty

      ea0033oc1.5
    • Oral bisphosphonates as prophylaxis of steroid-induced osteoporosis in Duchenne muscular dystrophy

      ea0033oc1.6
    • A mutation in thioredoxin reductase 2 is associated with familial glucocorticoid deficiency

      ea0033oc1.7
    • The repressor activity of the Wnt/[beta]-catenin effector Tcf3/TCF7L1 is required for normal hypothalamic-pituitary development

      ea0033oc1.8
    • Genetic characterisation of short children with potential defects of GH action by single gene sequencing

      ea0033oc1.9
  • Oral Communications 2
  • • Whole Exome Sequencing as a diagnostic tool in adrenal insufficiency

      ea0033oc2.1
    • Increased bone area without reduction in volumetric bone mineral density in children treated with glucocorticoids for nephrotic syndrome

      ea0033oc2.2
    • Clinical phenotype of patients with MCM4 mutation suggests pubertal delay in males

      ea0033oc2.3
    • FGF21 causes GH resistance in human chondrocytes through activation of SOCS2 and inhibition of IGF1 expression

      ea0033oc2.4
    • Continuous s.c. infusion of parathyroid hormone reduces PTH requirement in patient with activating mutation of the calcium sensing receptor

      ea0033oc2.5
    • Review of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing

      ea0033oc2.6
    • Novel lethal form of hypopituitarism associated with the first recessive LHX4 mutation

      ea0033oc2.7
    • Establishing a national audit of paediatric GH prescribing

      ea0033oc2.8
    • A comprehensive next generation sequencing-based strategy for genetic diagnosis in congenital hypothyroidism

      ea0033oc2.9
    • A new approach to the definition and diagnosis of adrenal insufficiency during inhaled corticosteroid therapy for asthma

      ea0033oc2.10
  • Oral Communications 3
  • • Catch up growth and insulin sensitivity in adolescent children born preterm

      ea0033oc3.1
    • GAD and IA2 autoantibody positivity is associated with a requirement for insulin treatment: results of the UK national paediatric Type 2 Diabetes cohort

      ea0033oc3.2
    • Successful treatment of four patients with severe hyperinsulinaemic hypoglycaemia with a novel therapy using mTOR inhibitor

      ea0033oc3.3
    • Successful Use of Long Acting Octreotide in Treatment of Congenital Hyperinsulinism

      ea0033oc3.4
    • Loss of the tumour suppressor micro-RNA 34a, and anti tumour cellular immunity in paediatric obesity - is obesity increasing the future risk of cancer in children?

      ea0033oc3.5
    • A feasibility study of intra-gastric balloons (supported by a lifestyle programme) for the treatment of severe adolescent obesity - the (BOB) Study.

      ea0033oc3.6
  • Oral Communications 4
  • • Risk factors for emergency hospital admission for diabetic ketoacidosis in children and young people: national cross-sectional analysis

      ea0033oc4.1
    • Maturity-onset diabetes of young 5 (MODY5) with Gallbladder duplication cyst: a novel case

      ea0033oc4.2
    • The incentive trial: do financial rewards improve glycaemic control in teenagers with poorly controlled type 1 diabetes?

      ea0033oc4.3
    • Special features of neonatal diabetes in a series of Arab patients from the Gulf region

      ea0033oc4.4
    • Peer Review: A tool to improve Paediatric Diabetes services

      ea0033oc4.5
    • Increased urinary megalin and cubulin excretion in children with type 1 diabetes mellitus: an association with low molecular weight protein loss

      ea0033oc4.6
  • Oral Communications 5
  • • Joint BPSU-CAPSS Surveillance Study of Childhood Gender Identity Disorder

      ea0033oc5.1
    • Clinical, biochemical and neuroradiological characterization of a cohort of patients with septo-optic dysplasia and multiple pituitary hormone deficiencies

      ea0033oc5.2
    • Hypoglycaemia success during the insulin tolerance test: a two centre comparison

      ea0033oc5.3
• Poster Presentations
• • (1)
  • • Plasma cortisol levels and adrenal weight in cases of death in childhood

      ea0033p1
    • A descriptive analysis and prevalence of congenital adrenal hyperplasia in Sri Lankan children

      ea0033p2
    • Diagnosing congenital adrenal hyperplasia. Radiologist rather than biochemist.

      ea0033p3
    • Subnormal Synacthen testing in infants [lt]6 months age: a review of diagnoses and outcomes

      ea0033p4
    • Primary glucocorticoid deficiency presenting as cholestatic jaundice in a neonate

      ea0033p5
    • Severe 21-hydroxylase deficiency congenital adrenal hyperplasia and congenital hypothyroidism due to thyroglobulin mutations in a single family: two distinct genetic disorders with phenotypic variability within a single family

      ea0033p6
    • Audit on the characteristics and management of patients in a large tertiary hospital paediatric adrenal clinic

      ea0033p7
    • Reliability of diagnostic tests for paediatric Cushing's syndrome

      ea0033p8
    • Enzyme-replacement therapy in life-threatening perinatal hypophosphatasia in a premature infant

      ea0033p9
    • Case report: a novel PHEX mutation in a female with X-linked hypo-phosphataemic rickets

      ea0033p10
    • Succesfully modified intermittent i.v. calcium treatment in a patient with hereditary vitamin D resistant rickets with alopecia: presence of nonsense mutation in ligand binding domain of vitamin D receptor

      ea0033p11
    • Brown tumours caused by severe vitamin D deficiency: a report of two cases

      ea0033p12
    • In unexplained hypoglycaemia, is the presence of ketones (betahydroxybutyrate) a reliable indicator that insulin is suppressed, excluding hyperinsulinism and avoiding the need to assay insulin directly

      ea0033p13
    • Design and validation of a severity scale for use in congenital hyperinsulinism

      ea0033p14
    • 18F-DOPA PET MRI as a new imaging modality for the precise localisation of focal congenital hyperinsulinism

      ea0033p15
    • Increasing weight in children with congenital hyperinsulinism is linked to KATP channel gene mutations

      ea0033p16
    • Frequency of focal and diffuse congenital hyperinsulinism with paternally inherited mutations in ABCC8 and KCNJ11

      ea0033p17
    • Altered plasma incretin concentrations in patients with non-typical forms of congenital hyperinsulinism

      ea0033p18
    • 6-Mercaptopurine linked with hyperinsulinaemic hypoglycaemia in two children with acute lymphoblastic leukaemia

      ea0033p19
    • 18F-DOPA PET and enhanced CT imaging for congenital hyperinsulinism: Our experience of using oral sedation

      ea0033p20
    • Long-term endocrine and exocrine outcome of medically unresponsive diffuse congenital hyperinsulinism managed with near-total pancreatectomy: 18 years' experience

      ea0033p21
    • Evaluation of Postprandial Hyperinsulinaemic Hypoglycemia in Children

      ea0033p22
    • Can we prevent hypoglycaemic brain injuries in term babies with no risk factors of Hyperinsulinaemic Hypoglycaemia?

      ea0033p23
    • Normoammonaemic Protein Sensitive Hyperinsulinaemic Hypoglycaemia: ? A novel syndrome

      ea0033p24
    • Gene expression profiling reveals possible role of growth factors in beta cell hyperplasia in congenital hyperinsulinism

      ea0033p25
    • Screening for Coeliac disease in children diagnosed with diabetes mellitus

      ea0033p26
    • Are paediatric patients attending their annual diabetic retinopathy screening?

      ea0033p27
    • Resurgence of Lipoatrophy as a complication of treatment with insulin

      ea0033p28
    • Prevalence and screening of thyroid and coeliac disease in type 1 diabetes mellitus

      ea0033p29
    • GAD and IA2 autoantibody positivity is associated with a requirement for insulin treatment: results of the UK national paediatric type 2 diabetes cohort

      ea0033p30
    • Growth and metabolic control in children and adolescents with type 1 diabetes mellitus associated with other autoimmune diseases

      ea0033p31
    • Diabetes mellitus related to Williams syndrome: first report of childhood onset

      ea0033p32
    • Transition of young people with diabetes: 3 years experience in a single centre

      ea0033p33
    • Reduced acute complications, improved glycaemic control and reported quality of life in young diabetic patients on continuous s.c. insulin infusion (CSII)

      ea0033p34
    • Tired, tachycardic, toxaemic, teenagers: fluids in severe DKA

      ea0033p35
    • Insulin pumps for adolescents and young people; main problems observed in Macclesfield: United Kingdom

      ea0033p36
    • Insulin pumps for adolescents and young people improve their quality of life

      ea0033p37
    • Three Families with Diabetes Mellitus and Sensorineural Deafness

      ea0033p38
    • Extreme hyperlipidaemia with poor glycaemic control in type 1 diabetes

      ea0033p39
    • Sensor augmented insulin pump therapy in children with steroid induced diabetes (SID)

      ea0033p40
    • How to manage steroid induced diabetes in children

      ea0033p41
    • 'A retrospective audit to observe the effect of the use of bolus calculators and carbohydrate counting have on blood glucose control in children and young people with type 1 diabetes'

      ea0033p42
    • Challenges in Meeting Best Practice Guidelines at a District General Hospital in Yorkshire: a review of the changes that need to be made and the financial implications

      ea0033p43
    • Mealtime insulin carbohydrate ratios and intensive insulin therapy

      ea0033p44
    • Local factors influencing service improvements in median HbA1c in children and young people with diabetes between 2003 and 2012

      ea0033p45
    • 'Bridging The Gap': improving glycaemic control for children of African descent in London

      ea0033p46
    • Factitious hypoglycaemia due to exogenous insulin 'Don't forget the skin'

      ea0033p47
    • Development of a next generation sequencing panel for disorders of sex development (DSDs)

      ea0033p48
    • Precious puberty in an infant is not normal

      ea0033p49
    • Early puberty in two girls with Prader-Willi syndrome

      ea0033p50
    • NR5A1 Mutation - A Rare Cause of Pubertal Androgenisation

      ea0033p51
    • 46,XX pure gonadal dysgenesis with tall stature due to an Xq21.2 deletion

      ea0033p52
    • Rapid molecular genetic diagnosis aiding personalised treatment of 5-[alpha]; reductase type 2 deficiency

      ea0033p53
    • Causes of precocious puberty in children referred to an Endocrine Unit in the Northwest of Turkey

      ea0033p54
    • Diagnostic spectrum of female pubertal delay

      ea0033p55
    • Review of the service for Turner syndrome patients at University Hospital of North Staffordshire

      ea0033p56
    • Middle ear disease in Turner syndrome: prevalence and risk factors

      ea0033p57
    • Exploring the culture of listening amongst children's nurses in an outpatient department: A mini-ethnographic study

      ea0033p58
    • Screening log data can be used to inform protocol modifications, increasing patient recrutiment to a challanging clinical trial

      ea0033p59
    • Dumping syndrome an often unrecognised problem following post nissen fundoplication, gastrostomy in infants

      ea0033p60
    • Disease- and treatment-related factors implicated in late neuroendocrine morbidity after paediatric optic pathway gliomas: a multivariate analysis of 166 patients over 30 years

      ea0033p61
    • Audit of obesity management in a tertiary endocrine centre

      ea0033p62
    • Serial 'body composition' measurements will help resolve the continued weight gain dilemma in children with PWS

      ea0033p63
    • Immune cell dysregulation - contributing to the risk of development of metabolic disease in childhood obesity

      ea0033p64
    • Modulation of mesenchymal stem cell differentiation by alterations in GH action and cell-matrix interaction

      ea0033p65
    • Chronic kidney disease: an uncommon cause of galactorrhoea in an adolescent

      ea0033p66
    • Effect of latitude, summer daylight exposure and genetic background on growth response to recombinant human GH in GH deficient patients

      ea0033p67
    • Multiple pituitary hormone deficiencies in two patients with arthrogryposis multiplex congenita

      ea0033p68
    • Congenital nasal pyriform aperture stenosis and pituitary abnormalities: case series of 20 patients and a management guideline for early identification of pituitary insufficiency

      ea0033p69
    • Growth hormone device change-over; is it beneficial?

      ea0033p70
    • GH neurosecretory dysfunction may be associated with structural abnormalities of the hypothalamic-pituitary axis

      ea0033p71
    • Assessment of cortisol and thyroid hormone levels in neonates with myelomeningocele

      ea0033p72
    • Stopping desmopressin treatment in a child with hypopituitarism and epilepsy

      ea0033p73
    • Comparison of Glucagon vs Clonidine stimulation test to diagnose growth hormone deficiency

      ea0033p74
    • How late is too late to treat with Growth Hormone? A case study

      ea0033p75
    • Abstract unavailable

      ea0033p76
    • Urinary gonadotrophins: role in assessment and management of disorders of puberty

      ea0033p77
    • How to improve the

      ea0033p78
    • Use of prolactin concentrations in disorders of pituitary function and optic nerve hypoplasia

      ea0033p79
    • Endocrine manifestations of CHARGE syndrome

      ea0033p80
    • The role of GH in early postnatal life in mice

      ea0033p81
    • The use of Radioactive Iodine in the treatment of childhood and adolescent hyperthyroidism

      ea0033p82
    • BSPED National thyrotoxicosis study: patient characteristics and initial response to antithyroid drug therapy

      ea0033p83
    • Incidence and clinical characteristics of dual thyroid ectopia in congenital hypothyroidism

      ea0033p84
    • Kocher-Debre-Semelaigne syndrome: a report of three cases

      ea0033p85
    • PTEN hamartoma syndrome: unravelling the complexities of childhood screening

      ea0033p86
    • Review of presentation and management of juvenile thyrotoxicosis at a single-centre between 2000 and 2010

      ea0033p87
    • An unexpected diagnosis of follicular-variant papillary thyroid carcinoma in an 11-year-old male

      ea0033p88
    • Low remission rates and high failure rate for medical treatment of thyrotoxicosis in childhood and adolescence: strategic implications for stopping antithyroid drugs

      ea0033p89