Endocrine Abstracts

Contents

• Speaker Abstracts
• • CME session
  • • Adrenal development, function and failure

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    • Congenital adrenal hyperplasia

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    • Cushing's disease

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    • Physiology and developmental biology

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    • Clinical evaluation of suspected cases of DSD

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    • What is going through the surgeon's mind when he is sitting in the DSD clinic?

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  • RCN CYP diabetes community session
  • • IT barriers and potential solutions

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    • Regional networks and PBR

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    • Child protection and social service challenges

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    • Cultural barriers to effective DM management

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    • Accreditation in paediatric diabetes in the UK and England

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    • A recipe for business success ... and staff motivation

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    • Enabling sustained improvements on CSII: how to fine tune!

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    • First hand experience of diabetes services: challenges and solutions

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  • Symposium 1 – Transition and Therapeutics
  • • GH replacement into adult life

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    • Sex hormone replacement and fertility for adolescents and young adults: who needs it and how should it be done?

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    • Steroid replacement

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  • Symposium 2 – Metabolic Bone Disease
  • • Vitamin D in health and disease

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    • New developments in phosphate metabolism: understanding the mechanisms of hypophosphataemic rickets

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  • Catherine Hall Memorial Lecture
  • • Catherine Hall Memorial Lecture: Congenital hyperinsulinism and DOPA-PET CT

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  • Symposium 3 – The Beta cell
  • • Altered beta-cell signalling and congenital hyperinsulinism of infancy (CHI)

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    • The yin and yang of beta cell genetics

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    • Neonatal diabetes

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  • Plenary guest lecture
  • • Practical use of continuous glucose monitoring

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  • Symposium 4 – Diabetes Care
  • • Corneal confocal microscopy and diabetic neuropathy

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    • Living with diabetes: normal but different, different but normal

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  • Endocrine Nurse session
  • • RCN CYP specialist care forum: endocrine community update

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    • Endocrine Nursing: raising the profile

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    • Survivorship, what it is and where it is going?

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    • Psychological impact of chronic illness for children and families

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• Oral Communications
• • Oral Communications 1
  • • Longitudinal FT4 levels in the first 4 weeks of life are an independent factor affecting brain growth in extreme preterm babies born [lt]28 weeks' gestation

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    • Growth Hormone Deficiency in children is associated with selective cognitive deficits

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    • Semen cryopreservation in adolescent minors with cancer: a 10-year experience

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    • The Growth Hormone Receptor Exon 3 Deleted Polymorphism is Associated with Birth and Placental Weight

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    • Factors affecting changes in insulin sensitivity and insulin secretion during Growth Hormone treatment in children born small for gestational age

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    • Altered Metabolomic Profile in Children Born Small for Gestational Age without Post-Natal Catch-up Growth

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    • Enhancement of the canonical Wnt pathway in Rathke's pouch results in pituitary tumours reminiscent of human adamantinomatous craniopharyngioma

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    • Clinical and Molecular Characterisation of 300 patients with Congenital Hyperinsulinism

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  • Oral Communications 2 (Brief Communications)
  • • Space-time clustering of elevated TSH levels on newborn screening

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    • An unbalanced maternal diet in pregnancy is associated with epigenetic effects in the offspring

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    • The phenotype of late-presenting congenital hyperinsulinism

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    • Morbidity and Mortality of Infants with Salt Wasting Congenital Adrenal Hyperplasia in an Unscreened Population

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    • Correlation of clinical and functional data to predict pubertal outcome in PAIS

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    • Novel TSHR mutations in a large cohort of consanguineous families with congenital non-goitrous hypothyroidism

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    • Wide range of eye abnormalities in patients with hypopituitarism: is this showing a novel genetic aetiology?

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    • Radio-iodine therapy for autoimmune hyperthyroidism. A two centre, retrospective evaluation of practice and outcomes

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  • Oral Communications 3
  • • Altered Expression of HCN Channels in Patients with Congenital Hyperinsulinism of Infancy (CHI)

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    • In vitro recovery of functional KATP channels in congenital hyperinsulinism of infancy (CHI)

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    • Are there practical alternatives to the inpatient mixed meal tolerance test for patients with Type 1 diabetes?

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  • Oral Communications 4 (Brief Communications)
  • • Cyclical variation in the incidence of type 1 diabetes in children from northeast England

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    • Medium term impact of continuous subcutaneous insulin infusion (CSII) on HbA1c levels: A regional meta-analysis of 185 patients

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    • Maintaining optimum glycaemic control in children with diabetes during Day Case Endoscopy

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    • Support for insulin injections in schools -- a survey

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• Oral Presentations (RCN CYP diabetes session)
• • (1)
  • • Insulin pump therapy in children with type 1 diabetes and its effect on growth and metabolism: 4 years experience

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    • An audit of education and knowledge surrounding social aspects of type 1 diabetes in adolescents

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    • Intensive insulin therapy in adolescent type 2 diabetes

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    • Differences in metabolic effects of twice daily versus multiple daily insulin injections in children with type 1 diabetes

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    • Lack of 'Hawthorn Effect' in a diabetes pump clinic

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• Brief Communications (Endocrine Nurse session)
• • (1)
  • • Investigation of premature adrenarche reveals a high incidence of congenital adrenal hyperplasia (CAH)

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    • Knowledge, perceptions and actions of obese paediatric patients

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    • Experience of management of children and adolescents with thyrotoxicosis in the West of Scotland 1987--2009

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    • Lessons from Klinefelter syndrome (47,XXY): a common DSD but with significant variation in presentation

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    • Exploration of the perceived information needs of girls with Turner Syndrome and their parents

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• Poster Presentations
• • (1)
  • • Adverse drug reactions and corticosteroids in acute paediatric admissions

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    • Optimization of treatment in children with 21-hydroxylase deficiency using cortisol profiling

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    • Pseudohypoaldosteronism Type 1 in Infants: A UK Experience

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    • Neonatal adrenal suppression from maternal steroid use: A retrospective case note study

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    • A 30 years review of congenital adrenal hyperplasia in Northern Ireland

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    • Adrenal responses to a simplified low dose short synacthen test (LDSST) in children with asthma

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    • Glucocorticoid hypofunction in Myotonic Dystrophy

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    • Comparison of the low dose synacthen and glucagon stimulation tests in the assessment of adrenal function in children with short stature

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    • Classical CAH due to a rare compound heterozygote mutation masquerading as pubarche in a 3 years old girl

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    • Transient hypocortisolemia in post-operative cardiac patients: is it a cause for concern?

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    • Investigating children of glucocorticoid remediable aldosteronism patients' -- early testing is beneficial

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    • A family kindred with persistent Mullerian duct syndrome secondary to AMH deficiency

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    • The European DSD register -- the start of an international DSD network

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    • Evaluation of terminology used to describe disorders of sex development

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    • Clitoral and penile sizes in healthy newborn babies in Ibadan, Nigeria

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    • IGF-2 deficiency in the growth disorder 3-M syndrome

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    • Feasibility of follow-up in short, small for gestational age (SGA) infants at 2 years -- interim report

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    • The effect of pubertal timing on later adult obesity

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    • Outcome of rhGH treatment in patients with achondroplasia and skeletal dysplasias

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    • Retrospective analysis of patients with paediatric diagnosis of isolated growth hormone deficiency in a single centre from 1970-2000

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    • Endocrine, hypothalamic and neuro-developmental outcomes following treatment for craniopharyngiomas

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    • GHT does not improve QOL in all conditions

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    • The impact of inflammatory bowel disease on pubertal growth is most marked in boys with Crohn's disease

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    • Short stature with deletion of chromosome 15q and duplication of 16q (q26.3:q23.1)

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    • Leucine sensitive hyperinsulinaemic hypoglycaemia in patients with 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH)

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    • Stem cell lines derived from patients with congenital hyperinsulinism

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    • Feeding problems and their associated predictive factors in congenital hyperinsulinism of infancy (CHI)

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    • Properties of a pancreatic side-population stem cell lines from a patient with congenital hyperinsulinism

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    • Cardiac abnormalities in children with congenital hyperinsulinism (CHI)

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    • Pigmentary hypertrichosis and non autoimmune insulin dependent diabetes mellitus (PHID) syndrome is associated with chronic inflammation and elevated serum amyloid A protein

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    • An unusual case of diabetes complicated by massive insulin oedema following onset of insulin therapy

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    • Is point-of-care glucose testing sufficiently accurate to be reliably used for clinical decision-making?

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    • Audit comparing the body-mass index (BMI) of children, with type 1 diabetes, in Nottingham, with current and historical background populations in the UK

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    • Undefined diabetes unfolds

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    • NAFLD in type 1 DM: a report of 2 cases

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    • MCADD and IDDM-A rare combination

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    • Type 2 diabetes in childhood: building a platform for interventions to prevent the progression to cardiovascular disease

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    • Insulin oedema in children with type 1 diabetes mellitus

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    • Case series: is thiamine responsive megaloblastic anaemia and diabetes associated with cardiac anomalies

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    • An audit on the process of transition from the paediatric diabetes service to the adult service at the University Hospital of Wales

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    • It's not just Coeliac disease: gastroenterology referrals from a paediatric diabetes clinic

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    • Molecular genetic testing for hypophosphatemic rickets

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    • Vitamin D status in paediatric oncology patients compared to control subjects: grounds for targeted supplementation

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    • A lifetime of aches, pains and hypocalcaemia

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    • Metabolic bone disease of prematurity

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    • Trends in clinical activity of a paediatric bone densitometry service

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    • Prevalence of congenital hypothyroidism (CHT) in infants presenting with prolonged jaundice

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    • A rare complication of Hashimoto's thyroiditis

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    • Timing of the first Guthrie test in preterm infants (32 weeks gestation or less) in Scotland and the efficiency of rescreening

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    • Why the confusion in Hashimoto's encephalopathy?

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    • Birth weight, thyroid function, calcitonin levels and growth in children with congenital hypothyroidism

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    • UK trends in the treatment of young patients with thyrotoxicosis using radioiodine

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    • A novel disorder of increased energy expenditure with severe failure to gain weight and increased brown fat

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    • Association of malaria in pregnancy with maternal metabolic biomarkers, cord blood IGF-I and birth size in Nigerian infants: 'The Ibadan Growth and Vascular Health Study'

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    • A review of the endocrine transition service over the last 10 years

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    • Hyperandrogensim secondary to topical testosterone exposure

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    • Retrospective audit of endocrine late effects in survivors of childhood cancer

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    • Persistent hypernatremia in infants...think diabetes insipidus

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    • An unusual spectrum of phenotype in autoimmune polyendocrinopathy syndrome type 1: a case series of 5 patients within a single centre

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