Endocrine Abstracts

Contents

• Speaker Abstracts
• • (1)
  • • National surveillance of congenital adrenal hyperplasia in children

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    • Antenatal screening for congenital adrenal hyperplasia: clinical practice or research?

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    • The calcium-sensing receptor: one receptor but many lessons

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    • Modern day therapies for childhood cancer: storing up problems for the future

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    • Body composition in survivors of childhood malignancy

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    • Long-term quality of life after cancer therapy in childhood

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    • Obesity in childhood: where we are now, and where we are going

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    • Diabetic nephropathy-bleak prospects or bright future

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    • Is a mean clinic HbA1C[lt]7.5% achievable in the United Kingdom?

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    • Educational strategies for type 1 diabetes management

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    • Diabetes care: first steps in crossing the quality chasm

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• Oral Communications
• • Endocrinology 1
  • • Functional and structural analysis of three novel mutations (A174E, V178D, L465P) in the CYP17A1 gene causing steroid 17-hydroxylase deficiency

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    • Persistent AVP production and hyponatraemia in a male infant with an activating mutation of the AVPR2 and his heterozygous mother: new insights into NSAID

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    • Pituitary function after childhood traumatic brain injury

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    • Childhood obesity limits gain in total body and lumbar bone size and radial bone mass. A longitudinal study

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  • Endocrinology 2
  • • Changes in the polyalanine tract in SOX3 is a rare cause of hypopituitarism

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    • A common polymorphism of the growth hormone receptor (GHR) and response to GH: a report of 97 cases (Manchester) and literature meta-analysis

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  • Late effects
  • • Differential effects of prednisolone and dexamethasone on body composition in survivors of childhood acute lymphoblastic leukaemia

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    • Body composition, aerobic fitness, cardiac ECHOs and lung function tests in survivors of bone marrow transplantation (BMT) in childhood on growth hormone treatment (GHTx)

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    • Possible mechanisms for osteonecrosis during treatment for childhood acute lymphoblastic leukaemia: effects of chemotherapy and lipopolysaccharide on osteocytes

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    • Bone morbidity in children receiving chemotherapy for acute lymphoblastic leukaemia in the UK

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  • Diabetes 1
  • • The influence of paediatric diabetic specialist nurses (PDSN) on glycaemic control (HbA1c) in children with Type 1 diabetes in Wales

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    • HbA1c league tables? How to get promoted and avoid relegation!

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    • Children with Type 1 diabetes should be screened for lipid abnormalities at annual review

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    • The Right Start: age matched algorithms for starting continuous sub-cutaneous insulin infusion therapy (CSII)

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  • Diabetes 2
  • • Extreme insulin resistance due to an insulin receptor mutation presenting as premature adrenarche evolving to polycystic ovarian syndrome in a non-obese girl

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    • Surgical outcomes in congenital hyperinsulinism of infancy (CHI) pre and post the introduction of diagnostic 18Fluoro (F)-DOPA positron emission tomography (PET)-CT scanning

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    • The genotype-phenotype relationship in congenital hyperinsulinism of infancy (CHI): the Northern Congenital Hyperinsulinism (NORCHI) Service 2 year experience

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    • Biallelic INS mutations are the commonest cause of permanent neonatal diabetes in consanguineous pedigrees

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• Poster Presentations
• • (1)
  • • Comparisons of patients with septo optic dysplasia, multiple pituitary hormone deficiency and isolated GH deficiency

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    • Optic nerve hypoplasia in patients with septo optic dysplasia (SOD) and isolated optic nerve hypoplasia (ONH)

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    • Novel Cullin 7 mutations in 3-M syndrome and exclusion of Fbxw8 mutations in non-CUL7 3M syndrome

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    • Effect of the orexin-A on the reproductive axis and on pubertal development

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    • Mutations in TBCE are associated with hypoplasia of the anterior pituitary and corpus callosum in children with hypoparathyroidism-retardation-dysmorphism syndrome

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    • Suboptimal linear growth despite entry into puberty in children with inflammatory bowel disease

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    • Growth monitoring following traumatic brain injury

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    • Lack of short-term catch up growth in children with Crohn's disease treated with infliximab

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    • Opportunistic growth measurement in children attending hospital is undertaken infrequently

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    • Genotropin (recombinant GH) for the treatment of growth failure in children: a systematic review of randomised controlled trials

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    • GH treatment and quality of life: the practicalities of running a multi-centre research study

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    • Turner Syndrome in young adults: where are they now?

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    • Short-term height gain in boys with constitutional delay of growth and puberty treated with testosterone esters or enantate

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    • Growth and pubertal status following pubertal induction in boys with IBD

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    • BSPED audit of patient choice in GH therapy

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    • Treatment of children with GH: an audit of adherence to NICE guidelines

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    • Linear growth patterns in a group of children with cerebral palsy (CP) and other motor disorders

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    • A case of primary Leydig cell hyperplasia presenting as unilateral testicular enlargement and peripheral precocious puberty in a 7-year-old male child

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    • Results of a UK survey of oestrogen replacement in patients with Turner syndrome

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    • Clinical and biochemical features of exaggerated adrenarche in a Scottish cohort: what investigations are justified?

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    • Premature sexual maturation: incidence and aetiology

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    • Use of aromatase inhibitor in a boy with short stature and advanced bone age

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    • Prepubertal Cushing's disease: diagnosis and therapeutic outcome

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    • Characterisation of seven novel 11[beta]-hydroxylase (CYP11B1) gene mutations: three severe and four mild mutations

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    • Androstenedione as a marker of disease activity in primary pigmented nodular adrenal dysplasia (PPNAD)

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    • The solution for salt Wasters: should we take it with a pinch of salt?

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    • Long-term outcome of autosomal recessive pseudohypoaldosteronism

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    • A diagnosis of pseudohypoaldosteronism wrongly given to cousins who were later diagnosed as having Bartters Syndrome and found to have a de novo mutation for the ROMK gene

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    • Outcome in Scottish adults with permanent congenital hypothyroidism born between 1979 and 1991

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    • Diagnostic accuracy of four modalities: venous thyroid function tests, thyroglobulin, ultrasound and 99mpertechnetate scanning (Quattro mode): in the investigation of newborns referred with TSH elevation

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    • A review of childhood thyroidectomies

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    • TRIAC and carbimazole combination therapy in pituitary thyroid hormone resistance

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    • Pseudohypoparathyroidism: an evolving clinical and biochemical picture

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    • Hereditary vitamin D resistant rickets (HVDRR), diagnostic and therapeutic challenges

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    • Maternal uniparental disomy of chromosome 14 and Silver--Russell syndrome: a new genetic association

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    • Outcomes of screening protocol in children at risk of Von-Hippel Lindau syndrome

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    • Increased incidence of low birthweight, prematurity and antenatal complications in Prader Willi syndrome

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    • An exploratory investigation into the cognitive profile of children with congenital hyperinsulinism of infancy (CHI)

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    • Hyperinsulinism--hyperammonaemia (HI/HA) syndrome: novel mutations in the GLUD1 gene and genotype phenotype correlations

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    • Hypoglycaemia screens: are they worth it?

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    • Abstract unavailable

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    • Body composition and cardiovascular risk factors in survivors of bone marrow transplantation (BMT) in childhood

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    • The phenotypic variation of inactivating and activating mutations of the calcium sensing receptor (CaSR)

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    • Clinical challenges in children with Type I diabetes mellitus aged less than 6 years old in a UK region

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    • Parental diabetes knowledge and glycaemic control of their children: a questionnaire study

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    • Comparison of insulin glargine and insulin detemir in children and adolescents with type 1 diabetes using multiple daily injections

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    • Pilot study to improve attendance rates at paediatric diabetes clinics

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    • DIASEND[reg]: one device to read them all and in the clinic guide them

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    • Type 1 diabetes: what do parents want to know at diagnosis? A pilot study

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    • Influence of body mass index and inherited insulin sensitivity on the age of diagnosis and autoantibody status in childhood Type 1 diabetes

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    • 3D animation for the education of young (4-8 years old) children with type 1 diabetes mellitus and their families

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    • Comparison of twice daily insulin and multiple daily insulin regimens in children and adolescents newly diagnosed with type 1 diabetes

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    • Social factors and glycaemic control in children with type 1 diabetes mellitus

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    • Seasonality of disease onset and of birth in type 1 diabetes mellitus

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    • Physical fitness of seven-year old children

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    • Implementing the RCN competency framework for paediatric endocrine nurses

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