Endocrine Abstracts

Contents

• Speaker Abstracts
• • CME Session
  • • Physiology/genetics

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    • Assessment of obesity

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    • Management of obesity

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    • Diabetes in the young: challenges and horizons

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    • Other forms of diabetes

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    • T2DM

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    • Hyperinsulinaemic hypoglycaemia

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  • RCN CYP Diabetes Community Session
  • • A good start does it matter? Intensive diabetes management from diagnosis

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    • Vitamin D and diabetes: emerging evidence

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    • Can peer review provide quality assurance and remove the postcode lottery?

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    • Can peer review provide quality assurance and remove the postcode lottery?

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    • Can technology enhance consultation style

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    • Helping children to learn about and understand their illness: a quick look at theory and its application

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    • The role of the consultant nurse in paediatric diabetes

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    • Diabetes self-management education: can it change diabetes outcomes?

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  • Symposium 1–Update on Adrenal Disorders
  • • Familial glucocorticoid deficiency: an update

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    • Recent advances in our understanding of adrenal development and disease

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    • Health problems in congenital adrenal hyperplasia: a UK perspective

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  • Symposium 2–Pubertal Disorders
  • • Novel insights into hypogonadotrophic hypogonadism

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    • Clinical management of late puberty

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  • Symposium 3–Insulin Resistance and Type 2 Diabetes: Novel Insights
  • • Genetic disorders of insulin signalling

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    • Early intervention in type 2 diabetes mellitus

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  • Plenary Guest Lecture
  • • Advances in our understanding of the genetic causes of obesity

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  • Symposium 4–Novel therapies/management in Diabetes Mellitus
  • • Islet cell transplantation: an update

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    • Immunology and type 1 diabetes mellitus

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    • Update on closed loop systems for the treatment of type 1 diabetes mellitus

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  • Endocrine Nurse Session
  • • Brief overview of pituitary tumours

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    • Craniopharyngioma from a surgeon's perspective

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    • Pre and post op care neurosurgical surgeon's perspective

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    • Craniopharyngioma from a patient's perspective

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    • Hows, whys and wherefores of Endocrine Testing Part 1

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    • Hows, whys and wherefores of Endocrine Testing Part 2

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    • Hows, whys and wherefores o endocrine testing: nurse perspective

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• Oral Communications
• • Oral Communications 1
  • • Surgical treatment of children with hyperparathyroidism: single centre experience

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    • Isolation and characterisation of tumorigenic progenitors/stem cells with a stabilizing mutation in [beta]-catenin, in a mouse model of human adamantinomatous craniopharyngioma

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    • High likelihood of malignancy in patients presenting with a thyroid nodule

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    • Growth retardation and severe constipation due to the first human, dominant negative thyroid hormone receptor [alpha] mutation

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    • Deconvolution analysis of 24 h serum cortisol profiles informs the amount and distribution of hydrocortsione replacement therapy

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    • Twenty novel mutations in nicotinamide nucleotide transhydrogenase (NNT) causing FGD

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    • Mild GH deficiency due to two novel homozygous mutations in the gene encoding GHRH receptor (GHRHR) in a single family

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    • Mutations in PROKR2 but not PROK2 are associated with congenital hypopituitarism and septo-optic dysplasia

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  • Oral Communications 2 (Quick Fire)
  • • Sperm cryopreservation in adolescent minors with cancer: factors predicting pre-treatment semen quality in 79 minors aged 12-18 years over 10 years

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    • The assessment of bone microarchitecture by high resolution magnetic resonance imaging (micro MRI) in young adults with childhood onset disease

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    • MCM4 mutation causes a novel DNA replication disorder associated with short stature and adrenal failure

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    • Short term effects of recombinant IGF1 therapy in children with Laron's syndrome

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    • A selective effect of IGFBP3 on brain volumes in healthy children

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    • What defines vitamin D deficiency biochemically in children?

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    • Selective reduction in trabecular bone mineral density during treatment for childhood acute lymphoblastic leukaemia

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    • Novel SOX2 mutation: from clinical phenotype to identification of new molecular mechanisms of SOX2 action and interactions

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  • Oral Communications 3
  • • The impact of GH deficiency (GHD) and GH treatment (GHTx) on cardiovascular risk in survivors of bone marrow transplantation with total body irradiation (BMT/TBI) in childhood

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    • Clinical, genetic, histological and radiological heterogeneity of focal forms of congenital hyperinsulinism

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    • Laparoscopic near total pancreatectomy for medically unresponsive diffuse congenital hyperinsulinism

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    • The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation

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  • Oral Communications 4
  • • Ethnicity rather than deprivation impacts on diabetes control and use of treatment regimen

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    • White UK children are older, more obese and more insulin resistant than non-White UK children at diagnosis of type 2 diabetes: baseline results of the UK national type 2 diabetes cohort

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    • Non-linear dynamic analysis of glucose regulation in subjects with type 2 diabetes and controls: observed variability and lability (OVAL)

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    • Natural history of background retinopathy in children and young people with diabetes

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  • Oral Communications (RCN CYP Diabetes Session)
  • • Continuous subcutaneous insulin infusion (CSII) at diagnosis

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    • Investigating vitamin D status as a determinant of HbA1C% in type 1 diabetic paediatric population

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    • Use of Peer review to help individual units and networks improve standards of care

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    • A network delivered 'out of hours' specialist telephone support service for young people and families with type 1 diabetes

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    • Group education facilitation skills for the multidiscplinary team

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  • Oral Communications (Endocrine Nurse Session)
  • • A service evaluation of children with congenital adrenal hyperplasia (CAH) across South Wales in 2010

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    • An analysis of the clinical and cost effectiveness of GH replacement therapy before and during puberty: should we increase the dose?

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    • Paediatric endocrine nurse specialists: roles, education and aspirations

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• Poster Presentations
• • (1)
  • • The vitamin D status of Irish children

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    • Vitamin D supplementation for chronically ill patients: where are we?

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    • Vitamin D deficiency in obese Irish children

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    • Breaking bones or breaking the bank? A study of vitamin D insufficiency

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    • The usefulness of vitamin D measurements in a busy General Paediatric Unit

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    • Vitamin D status of children and adolescents attending an Endocrinology Clinic

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    • Effect of patient choice and hospital tracking on short term growth in children treated with GH therapy

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    • Audit of diagnostic criteria and growth outcomes over 2 years in children with congenital hypothyroidism

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    • A survey of patient/carer opinions and preferences on choice of GH injection device

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    • A longitudinal study of pubertal growth in inflammatory bowel disease

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    • Audit of use of transdermal oestradiol for pubertal induction in girls

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    • The European DSD register: a platform for International Collaborative Research

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    • The dihydrotestosterone assay for identifying 5[alpha]-reductase deficiency: a five-year audit from a UK tertiary Paediatric Centre

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    • Height outcome in children with testotoxicosis

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    • LIN28 in human ovary development and as a candidate gene for primary ovarian insufficiency

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    • GH stimulation testing: how discrepant are its diagnostic tests?

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    • GH stimulation tests before and after the introduction of a new GH assay; are we finding a similar proportion of abnormal results ?

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    • Novel KAL1 mutations associated with septo-optic dysplasia in three female patients

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    • Mutations in the Sonic Hedgehog signalling pathway in patients with congenital hypopituitarism

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    • Diabetes insipidus, immunodeficiency and colitis in infancy

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    • Lessons learnt from the management of atypical Cushing's disease

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    • What does prolactin measurement add to the evaluation of pituitary hormone function?

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    • CHARGE syndrome: experience of a tertiary Endocrine Centre

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    • A case of familial isolated hypogonadotrophic hypogonadism due to FGFR1 G687R mutation

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    • Limbic encephalitis: a novel presentation of Hashimoto's thyroiditis in children

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    • Thyroid isotope scans: can it predict transient or permanent hypothyroidism in babies with borderline TSH values on screening test?

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    • Referral of presumptive cases of congenital hypothyroidism from the newborn screening programme: plain sailing or a choppy ride?

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    • Prophylactic thyroidectomy in children with MEN2 in the United Kingdom

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    • Audit on initial management of congenital hypothyroidism

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    • Phenotypic variability of 17[alpha]-hydroxylase (CYP17A1) deficiency

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    • Oxidative stress in the pathogenesis of Triple A syndrome

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    • Steroid dose, age and gender affect adrenal responses to a low dose short Synacthen test in children with asthma

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    • Towards a non-invasive short Synacthen test

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    • All Wales steroid card: the way forward

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    • Extreme hyponatraemia with intact neurological outcome in a young child with Addison's disease

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    • Recurrent hypoglycaemia with hyponatraemia during illness: what lies beneath?

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    • Second primary tumours in young adult survivors of childhood posterior fossa brain tumours and prior therapeutic protocol

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    • Endocrine, cognitive and visual outcomes following treatment for Craniopharyngioma at a single institution: a prospective observational study

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    • Treatment strategies and outcomes of paediatric Craniopharyngioma since 2005: a single centre experience

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    • Gonadal failure in children with acute lymphoblastic leukaemia treated by bone marrow transplantation: prevalence and risk factors

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    • Vitamin D deficiency in young survivors of childhood cancer

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    • Bone density in children with acute lymphoblastic leukaemia at a regional centre and comparison to children at risk of low bone density

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    • Chemotherapy treatment for medulloblastoma is associated with increased risk of impaired gonadal function

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    • The use of continuous s.c. insulin infusion therapy to optimize glycaemic control in children with type 1 diabetes mellitus

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    • Uptake of BSPED revised guidelines for paediatric DKA management in Scotland

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    • The use of glucose meter downloads in monitoring childhood diabetes mellitus

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    • Audit of paediatric patients with IDDM on CSII (pump) therapy in a District General Hospital

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    • The lived experiences of children and parents using continuous s.c. insulin infusion or insulin pump

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    • Frequency of blood glucose testing correlates poorly with HbA1c values in children with type 1 diabetes mellitus

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    • Using self-monitoring of blood glucose to improve understanding and self-management of diabetes in children and young people with type 1 diabetes in a routine clinical setting

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    • Continuing variation in DKA guidelines despite national guidelines

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    • Educating children in continuous subcutaneous insulin infusion (CSII) therapy; are we improving diabetes control?

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    • An unusual case of type 1 diabetes mellitus and autoimmune limbic encephalitis

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    • Confounding factors and variations in HbA1c collection methods have not shown different HbA1c results as compared to the National Paediatric Diabetes Audit Results

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    • A case of non ketotic hyperglycaemic hyperosmolar coma in a child precipitated by pancreatitis

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    • Pigmented hypertrichosis and insulin dependent diabetes mellitus (PHID) syndrome is associated with chronic inflammation and involves the NF-kB response pathway of inflammation

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    • Quality of life in children with type 1 diabetes in Kuwait

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    • Effect of diagnosing coeliac disease and instituting a gluten-free-diet on glycaemic control in asymptomatic children with type 1 diabetes mellitus

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    • Permanent neonatal diabetes mellitus due to a homozygous R397L (Glucokinase) mutation managed with CSII therapy

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    • Reducing the risk of serious infections for children with diabetes mellitus: an audit of immunisation practice

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    • Young people have a limited knowledge about diabetes research

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    • Care of newly diagnosed children with diabetes: survey of general practitioners

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    • Audit of structured educational programme for carbohydrate counting for children with type 1 diabetes

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    • Internet-based information resources for young patients and families with diabetes mellitus: a user preference survey

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    • Assessment of standards of care in children's diabetes services across Yorkshire and Humber SHA

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    • Audit on psychology/psychotherapy support in children with diabetes

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    • Clinic appointment reminders and their effect on 'did not attend' (DNA) rates and HbA1C, in a paediatric diabetes clinic

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    • Survey of management of diabetes in schools

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    • Experiences and attitudes towards clinics among pre-transitional and transitional adolescents with type 1 diabetes, a clinical attitudes survey

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    • Evaluation of the Lothian Diabetes Service for adolescents with type I diabetes mellitus

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    • Type 2 diabetes in young adults in East London: an alarming increase

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    • Which test to use for screening glucose intolerance in overweight/obese children?

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    • Syndromic obesity

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    • Age at onset of inappropriate weight gain in Prader-Willi syndrome; an opportunity for obesity prevention

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    • Orlistat prescribing in children in Scotland

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    • Impact of community based weight management programmes on hospital based dietetic activity

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    • Octreotide treatment for congenital hyperinsulinism can cause hepatitis

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    • Audit of Endocrine Adolescent Transition Clinic, RHSC Glasgow, 2008-2010

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    • Clinical characterisation of hyperinsulinaemic hypoglycaemia associated with intra-uterine growth restriction

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    • Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene

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    • An audit of diazoxide prescriptions in children with congenital hyperinsulinism: preliminary recommendations

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    • (Pseudo)hyperkalaemia caused by stomatin deficient cryohydrocytosis due to GLUT1 deficiency

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    • Galactokinase deficiency in a patient with congenital hyperinsulinism: the cautionary tale of using bedside blood glucose monitors

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    • Mevalonic aciduria in a pedigree with presumed GH-insensitivity

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