Endocrine Abstracts

Contents

• Speaker Abstracts
• • (1)
  • • What the new UK-WHO growth charts mean to you

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    • New UK preterm growth charts

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    • Current approaches to understanding the pubertal growth spurt

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    • Investigating peripubertal growth problems

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    • Achieving the best growth at puberty in Turner syndrome

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    • Insulin therapy at school

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    • Cystic fibrosis related diabetes (CFRD) in childhood and adolescents

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    • Sport for teenagers with diabetes

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    • Child protection issues in children and young people with diabetes

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• Oral Communications
• • Oral Communications 1
  • • Cholesterol and apolipoprotein levels in a cohort of girls with Turner syndrome, and the effect of GH therapy

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    • Altered GH/IGF1 signalling in children born small for gestational age without catch up growth

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    • IGF1R gene expression in patients with idiopathic short stature according to GH and IGF1 status

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    • A multisystem disorder associated with defective selenoprotein synthesis and a thyroid signature

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    • The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor obscurin-like 1

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    • Influence of JAK2 and PI3 kinase genotypes on growth response to GH therapy

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  • Oral Communications 2
  • • Final height in Turner syndrome after Oxandrolone and delayed pubertal induction: results of a UK randomised, double-blind, placebo-controlled trial

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    • Recombinant human GH improves linear growth in children with inflammatory bowel disease: results of a randomised controlled trial

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  • Oral Communications 3
  • • Accuracy of 2.5 mg hydrocortisone doses from quatered 10 mg tablets

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    • Adrenal function in children and adolescents with Prader-Willi syndrome attending a single centre from 1991 to 2009

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    • Mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter-3 protein (hENT3) is associated with pigmentary hypertrichosis; insulin dependent diabetes mellitus (PHID); short stature and hypogonadism

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    • Severe midline abnormalities result in a distinct spectrum of endocrinopathies: implications for genetic diagnosis and follow-up

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    • Pituitary function at least 4 years after traumatic brain injury in childhood

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    • Melatonin secretion in children with sleep disturbance and septo-optic dysplasia

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    • Heterogeneous tissue in the thyroid fossa on ultrasound in infants with proven thyroid ectopia on isotope scan: a diagnostic trap

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    • Determinants of remission and relapse in a cohort of children with thyrotoxicosis treated with dose titration of carbimazole

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  • Oral Communications 4
  • • Parahippocampal aberrations in children with GH deficiency: a diffusion tensor imaging study

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    • First report of a de novo heterozygous SOX2 deletion associated with a large hypothalamo-pituitary tumour gives further insights into the role of SOX2 in pituitary development

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    • Pituitary adenomas presenting in children and young people: a single centre experience

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  • Oral Communications 5
  • • Specialist nurse delivered emergency telephone service for children with type 1 diabetes

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    • Survey on facilities in the local schools for children with type I diabetes (T1D)

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    • Young persons' weight management service: a service users' evaluation

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    • Diabetes mellitus and hyperinsulinaemic hypoglycaemia (HH) due to dominant ABCC8/KCNJ11 mutations

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    • Point of care blood ketone level: a useful tool to diagnose DKA?

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    • Ongoing benefit of CSII in the improvement of HbAlc and BMI in a cohort of children with type I diabetes

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  • Oral Communications 6
  • • Rising incidence of type 1 diabetes mellitus in children and adolescents under 15 years in the Republic of Ireland in 2008 (Preliminary figures)

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    • Microalbuminuria screening on type 1 diabetes

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    • Audit of paediatric diabetic eye screening

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• Poster Presentations
• • (1)
  • • Lipoatrophy with insulin analogues in four children with type 1 diabetes

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    • Scopes and Barriers for management of childhood obesity

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    • Abstract unavailable

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    • Use of clinic proforma as a tool has been shown to improve diabetic reviews

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    • Hyponatremia in Type 1 Diabetes: Pseudohyponatremia or presentation of autoimmune Adrenal Dysfunction

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    • Growth, Final Height and Endocrine Sequelae post Bone Marrow Transplantation in a UK population of patients with Hurler Syndrome (MPS 1H)

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    • Increased Hypothalamic-pituitary-adrenal axis (HPAA) activity after childhood bone marrow transplantation (BMT) with total body irradiation (TBI) results in chronic hypercortisolaemia associated with obesity

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    • The Current UK Experience of Recombinant IGF1 For Cases of Severe Primary IGF1 Deficiency

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    • Improvement in growth of children with crohn's disease following anti-TNF[alpha] therapy can be independent of pubertal progress and glucocorticoid reduction

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    • Defining Criteria for Poor Responders to Growth Hormone (GH) in Short Children Born Small for Gestational Age (SGA)

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    • Evaluation of an automated bone age scoring program against a single observer, using the TW3 scoring system

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    • The IGF system during acute hypoxia in children

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    • Reduced growth hormone secretion in children and young adults following total body irradiation (TBI) for bone marrow transplantation (BMT) in childhood

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    • Growth restriction with insufficient growth hormone production in a child with variant Miller-Dieker syndrome

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    • Growth hormone therapy in the treatment of short stature in cardio-facio-cutaneous syndrome

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    • Two novel missense mutations in MRAP (p.Y59D and p.V26A) that lead to late onset Familial Glucocorticoid Deficiency (FGD) type 2

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    • Severe glucorticoid deficiency in 17-hydroxylase deficiency - novel mutation in the CYP17A1 gene

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    • Current use of the Synacthen Test: A questionnaire survey of British Paediatric Endocrinologists

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    • Congenital adrenal hyperplasia: incidence, prevalence and rationale for inclusion on the newborn screening programme in the Republic of Ireland

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    • Synacthen tests in children with asthma on high dose inhaled corticosteroids

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    • Adrenal hypoplasia congenita presenting as sudden death in the newborn: how should we manage subsequent siblings?

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    • Nepalese StAR

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    • The Androgen Status Of Young Women With Premature Ovarian Failure Depends On The Female Sex Steroid Replacement Regimen

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    • Age at menarche and pubertal education in the London Borough of Islington

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    • Diagnostic Challenges in Androgen Insensitivity Syndrome [amp] 5 Alpha Reductase Deficiency

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    • Prevalence of congenital malformation in Scottish children with true congenital hypothyroidism 1979[ndash]2009

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    • Factors that influence the decision to perform a karyotype in suspected disorders of sex development: lessons from the Scottish Genital Anomaly Network Register

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    • 46 XY girls [ndash] the importance of careful newborn examination

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    • 46, XY DSD: A case of clinical and biochemical conflict

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    • Congenital hypothyroidism - A thirty year audit of the National Newborn Screening Programme in the Republic of Ireland

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    • Prophylactic Thyroidectomy in Children with Multiple Endocrine Neoplasia Type 2

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    • Has the change in Guthrie TSH cut off point made an impact in early detection [amm] management of congenital hypothyroidism?

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    • Is There A High Incidence Of Graves' Disease In Doncaster And What Are The Potential Causes? A Retrospective Study

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    • What skills do young people attending paediatric endocrine clinics feel they need before transfer to adult services?

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    • Point of care glucose monitoring on the Neonatal Unit: An audit project

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    • What do young people think about seeing the doctor alone in paediatric endocrine clinics?

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    • Pitfalls of the four hour wait: keeping alert to potential endocrine presentations in Accident and Emergency

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    • Management of central diabetes insipidus in a paediatric intensive care unit

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