Endocrine Abstracts

Contents

• CME Training Day Abstracts
• • (1)
  • • Induction of puberty

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    • Consultant paediatric endocrinologist, Great North Children's Hospital, Newcastle Upon Tyne

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    • Approach to adrenal insufficiency

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    • DSD - what's new?

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    • Interpretation of dynamic tests

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    • Abstract unavailable

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    • Unusual cases of diabetes mellitus

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• Main Symposia
• • Industry sponsored Satellite Symposium
  • • Complications for Growth Hormone Therapy

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    • Novel insights into pituitary dysfunction - Congenital hypopituitarism: new genes, new phenotypes

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  • Symposia 1 Translational Endocrinology
  • • New approaches to diagnosing short stature

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    • Thyroid - from bench to beside

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    • Pitutiary gigantism

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  • Symposia 2 Bone
  • • New therapies in paediatric bone disease

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    • The diagnostic role of ALP - what the endocrinologist needs to know

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  • Symposia 3 Obesity and Type 2 Diabetes
  • • What have we learnt from the GOOS study?

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    • The complications of childhood obesity - TDM and beyond

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    • Bariatric surgery

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  • Symposia 4 Diabetes
  • • The NICE guidelines for diabetes in children and young people

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    • What should pediatricians be telling adolescent diabetics?

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    • A lifetime of diabetes - what have we learned?

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    • Abstract unavailable

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• Diabetes Professionals Session
• • (1)
  • • Latest developments in monogenic diabetes

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    • Novel method of teaching - Immunology in diabetes

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    • Structured education during transition: WICKED

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    • Emotional resilience and mindfulness for both health care professionals and CYP and families with diabetes

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    • Specialist, advanced and consultant nurse roles: new RCN guidance

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    • Disordered eating

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    • Integrating advanced technologies into patient centred consultations

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    • Abstract unavailable

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• Endocrine Nurse Session
• • (1)
  • • Ipsen awards winner

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    • Bones at ground level

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    • Replacement steroids where do we go from here?

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    • Abstract unavailable

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• ORAL COMMUNICATIONS
• • Oral Communications 1
  • • Gonadotropin-independent precocious puberty of uncertain aetiology

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    • Delayed puberty due to a non-functioning pituitary adenoma

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  • Oral Communications 2
  • • Severe hyponatremia with neurological involvement in a child with adrenal insufficiency

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    • Inguinal hernia repair in a girl, a missed opportunity to diagnose 17[beta]-HSD

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  • Oral Communications 3
  • • Long standing autoimmune hypothyroidism with macro-orchidism and pituitary mass: Van Wyk-Grumbach syndrome

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    • Unmasking of diabetes insipidus in a newborn with hypocortisolaemia after commencing hydrocortisone.

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  • Oral Communications 4
  • • An unusual case of non-type 1 diabetes mellitus, presumed mitochondrial in aetiology, presenting with hyperglycaemia, ketosis and lactic acidosis

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    • Hereditary persistence of foetal haemoglobin in a type 1 diabetic patient impacting glycaemic control and influencing safeguarding issues

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  • Oral Communications 5
  • • Mutations in IGSF10 cause self-limited delayed puberty

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    • Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing

      ea0039oc5.2
    • Dominant negative STAT5B variants in two families with mild GH insensitivity and eczema

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    • White matter integrity and neurocognitive deficits in children with hyperinsulinemic hypoglycaemia and ketotic hypoglycaemia: a comparison study

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    • A novel, missense, mutation (P81R) in the TRH receptor gene in congenital central hypothyroidism

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    • Bone histomorphometry in patients with TMEM38B mutations suggests a novel patho-mechanism leading to increased bone fragility

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    • Prevalence, management, and long-term outcomes of osteonecrosis in young people with acute lymphoblastic leukaemia

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    • Neonatal TSH: is it useful and appropriate as an indicator of iodine insufficiency in the UK?

      ea0039oc5.8
    • Assessing aortic dilatation using aortic sized index is inappropriate in children and adolescents with Turner syndrome

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    • Pegvisomant treatment for X-linked acrogigantism syndrome

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  • Oral Communications 6
  • • Somatostatin-expressing cells contribute to the pathobiology of atypical congenital hyperinsulinism in infancy

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    • Mutations in BRAF are associated with septo-optic dysplasia and cardiofaciocutaneous syndrome

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    • Skeletal changes in pre-pubertal children with loss of function mutations in the melanocortin-4 receptor

      ea0039oc6.3
    • Associated renal anomalies in children with Turner syndrome: 43-year experience from a single-centre

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    • The measurement of urinary gonadotrophins for assessment and management of pubertal disorders

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    • An assessment of auditory function in infants with congenital hypothyroidism

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    • Standard and modified release hydrocortisone formulations: cortisol levels and patient preference

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    • An interstitial deletion within GATA3 in association with abnormal pituitary structure and function

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    • The impact of intragastric balloon placement suppported by a lifestyle intervention programme on cortical and trabecular microstructure and strength in severely obese adolescents

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    • Neuroradiological features in a cohort of 53 children with Thickened Pituitary Stalk (TPS) and/or idiopathic central diabetes insipidus

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  • Oral Communications 7
  • • Wolfram syndrome: natural history and genotype-phenotype correlation based on EURO-WABB registry show gender differences in disease severity

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    • Insulin and glucose profiles following an oral glucose tolerance test in patients with cystic fibrosis and classification tree modelling of insulin:glucose profiles as a tool to predict changes in lung function

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    • Safety and efficacy of atorvastatin treatment in children with familial hypercholesterolaemia

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    • The cost-effectiveness of the KIds in control of food structured education programme for adolescents with type 1 diabetes

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    • Investigating the impact of post-translational modification of Type 1 diabetes auto-antigens by tissue transglutaminase.

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    • The evolving phenotype of transient neonatal diabetes 1: findings from the international register

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  • Oral Communications 8
  • • 4 year outcome of combined 'en bloc' liver-pancreas transplant in two adolescents with cystic fibrosis

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    • Using WhatsApp messaging to improve engagement of young adolescents with type 1 diabetes mellitus

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    • Frequent patient contact to improve HbA1C- face-to-face or 'Virtual'?

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    • Predictors of insulin resistance and the effect of Metformin treatment in obese paediatric patients

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    • In children with T1DM already achieving target HbA1c levels, those with HbA1c <48 mmol/mol have no increase in hypoglycaemia.

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  • Oral Communications 9
  • • Steroid sick day rules: an audit of caregiver education and confidence levels

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    • Identifying critical periods for maintaining weight loss in obese children

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    • National audit of transition in endocrinology: joint between society for endocrinology and the british society for paediatric endocrinology & diabetes

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• Poster Presentations
• • (1)
  • • Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH)

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    • Islet cell proliferation is inappropriately maintained in the pancreas of children with congenital hyperinsulinism in infancy

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    • The relationship between catch up growth and adipokine profile in adolescent children born preterm

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    • Use of long acting somatostatin analogue (Lanreotide) in CHI - its pharmacokinetics and long-term follow-up study

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    • Junior KICk-OFF (kids in control of food)-developing structured education for primary school age children

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    • Growth and metabolic phenotypes in patients with srs: a multi-centre cross-sectional observational study

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    • An assessment of the hypothalamic-pituitary-adrenal axis in children with prader-willi syndrome (PWS)

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• e-Posters
• • Adrenal
  • • Variation in absorption and half-life of hydrocortisone: a need to consider plasma terminal half-life in dosing schedules

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    • Between patient and inter-time point variability in salivary cortisone: cortisol ratios

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    • Cortisol responses to the insulin tolerance test and glucagon stimulation tests in children with idiopathic short stature and idiopathic isolated growth hormone deficiency

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    • Discordance between the cortisol dose for replacement and that required for suppression of androstenedione (A4) and 17 hydroxyprogesterone (17OHP) in congenital adrenal hyperplasia

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    • Current dilution methods cause large variations and inaccuracies when making up 1mcg Synacthen dose

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    • Not always CAH: urine steroid profiling in the investigation and diagnosis of adrenal causes of neonatal hyponatraemia and failure to thrive

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    • Improving patient safety: evaluating the introduction of the Annual Steroid Review and Emergency Alert Systems

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    • Intravenous Etomidate in the management of hypercortisolaemia due to ectopic ACTH producing thymic neuroendocrine tumor

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    • Slow progressing puberty and a secreting adrenocortical tumour in a teenager.

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    • Reducing the risk of adrenal crisis: a service improvement project assessing education on adrenal insufficiency

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    • A case of acute muscular weakness from Ectopic ACTH secreting Neuroendocrine Tumour of the Thymus

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    • A case of a rare adrenocortical tumour mimicking neuroblastoma

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  • Bone
  • • Influence of skin colour, ethnicity, and genotype on the response to vitamin D treatment

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    • Increase in lean mass may augment gains in bone mass and size in patients with osteogenesis imperfecta treated with bisphosphonates

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    • The precision of partial image analysis of trabecular bone microarchitecture by high-resolution magnetic resonance imaging in people with childhood-onset bone abnormalities

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    • Metformin regulates the differentiation of murine mesenchymal stem cells via AMPK-independent suppression of p70s6-kinase

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    • The prevalence of fragility fractures in children with cerebral palsy in Manchester: a cross-sectional survey

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    • Trends of use of bisphosphonates in children with secondary osteoporosis

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    • Rickets due to dietary calcium deficiency in Manchester

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    • Early onset cataract in an infant with activating calcium-sensing receptor mutation

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    • Safe prescribing: vitamin D toxicity as a result of inadvertent overdose

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  • Diabetes
  • • Higher glycaemic response after British breakfast cereals in comparison to European breakfasts

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    • Methods used in glycaemic monitoring in children and young people with diabetes in England and Wales

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    • A National survey of annual screening in diabetes clinics in the UK

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    • Using co-production and graphic facilitation to improve patient experience in type 1 diabetes mellitus

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    • Ethnic variation in the correlation between waist-to-height ratio and total daily insulin requirement in children with type 1 diabetes: a cross-sectional study

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    • Junior KICk-OFF - teaching and health care profession working in partnership to develop diabetes education

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    • Is the glycaemic control in type 1 diabetes mellitus affected by Vitamin D status?

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    • Factors influencing type 1 diabetes control in children - a detailed local analysis of an NPDA dataset

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    • Establishing a 'Pump School' in a large children's hospital

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    • Comparison of current trends in obesity in patients with type 1 diabetes in Nottingham with a historical cohort and 2013-2014 national child measurement programme data in the UK

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    • Diabetes distress in transitional age evaluated by 'problem areas in diabetes' in type 1 diabetic patients from Marrakech.

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    • Is the glycaemic control in type i diabetes mellitus affected by Vitamin D status?

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    • Heterozygous glucokinase splicing mutation - identical genotype with variable phenotype in a single family

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    • Retrospective baseline services audit regarding the nature of emergency department attendances by registered diabetic children

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    • Quantity of patient contact with a paediatric diabetes service - is there correlation with HbA1c?

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    • Service evaluation of the 'Ready Steady Go' transition programme in type 1 diabetes in Southampton

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    • Continuous glucose monitoring: effects on metabolic control, fear and frequency of hypoglycaemic episodes

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    • Young people with type 1 diabetes of non-white ethnicity and lower socioeconomic status have poorer glycaemic control in England and Wales - a national population-based study

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    • Pancreatitis, adrenal insufficiency and autoimmune diabetes mellitus in a girl with probable sarcoidosis

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    • Variation in 24-h basal insulin requirements with age in children and young people with type 1 diabetes mellitus

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    • Challenges in diabetic care - the effect of implementing a New Patient Education Programme

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    • The effects of CSII on glycaemic control, hypoglycaemia, DKA and BMI in paediatric T1D patients.

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    • Increased insulin requirement may contribute to higher BMI in children and young people with type 1 diabetes mellitus

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    • Decorticate posturing in newly diagnosed case of diabetes ketoacidosis

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    • Evaluation of a novel tool to adjust insulin boluses based on continuous glucose monitoring trend arrows and insulin sensitivity (trend arrow adjustment tool) in children and adolescents with type 1 diabetes using insulin pump therapy

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    • Characteristics of newly diagnosed children with type 1 diabetes - DKA vs Non- DKA presentation

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    • Use of U200 insulin degludec (Tresiba) and metformin in an adolescent with Type-1 diabetes-mellitus

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    • HbA1c: is it a reliable measure of glycaemic control in all patients with type 1 diabetes mellitus?

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    • Monitoring HbA1C in patients on continuous subcutaneous insulin infusion for the treatment of type 1 diabetes

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    • High ferritin and glucose metabolism in diabetes - a case report.

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    • Multi factorial challenges in managing a patient with neonatal diabetes

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    • Too sweet for too long?

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    • A case of a retained needle from insulin pump therapy

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    • Acute kidney injury as a severe complication of diabetic ketoacidosis

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    • Delayed referral of children with new onset type 1 diabetes

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    • Impact of best practice tariff (BPT) for accessing psychological service by diabetic children and young people

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    • Acute hyperglycaemia in cystic fibrosis related diabetes: the role of insulin pumps

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    • Clinical examination of lipohypertrophy: best practice recommendations

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    • To pump or not to pump; paediatric insulin pump efficacy

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    • CYPWMDN diabetes awareness education for schools - regional study day

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    • Frequency of Hypoglycaemia in Children and Young People's Diabetes Clinic

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    • Paediatric type 1 diabetes mellitus in The Gambia, West Africa - presentation and outcome

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    • Audit of DKA admission rates in children and young adults 2010-2015

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    • CASE REPORT-chromosome 9p trisomy with insulin dependent diabetes

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    • Just a little prick; the effect blood glucose monitoring on diabetic control

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    • Severity of presentation with diabetic ketoacidosis at diagnosis of diabetes; India versus the UK

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    • Non-adherence to treatment in teenagers with diabetes: how can we help?

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  • Gonadal, DSD and reproduction
  • • Changes in body composition during late puberty. The effect of sudden sex hormone withdrawal

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    • Chromosomal variations in children and adolescents with gender dysphoria: is routine karyotyping indicated?

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    • Standard GnRH analogue doses do not adequately suppress puberty in adolescent patients

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    • The role of a next generation sequencing panel in the diagnostic pathway in disorders of sex development

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    • Inter and intra-rater reliability of accuracy of testicular volume evaluation: a simulation study

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    • Mode of clinical presentation and delayed diagnosis of turner syndrome

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    • Intravaginal foreign body should be excluded in prepubertal cyclical vaginal bleeding without other evidence of precocious puberty

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

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  • Late effects of cancer treatment
  • • Impact of haematopoietic stem cell transplantation with total body irradiation on apparent bone mineral density in childhood leukaemia survivors

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    • Endocrine sequelae beyond 10 years in survivors of medulloblastoma: comparison of three major treatment regimens

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  • Miscellaneous/other
  • • The not so sweet truth of paediatric hypoglycaemia

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    • Volumetric changes in the hippocampus and relationship to memory indices in children with hyperinsulinaemic hypoglycaemia and ketotic hypoglycaemia

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    • Pilot study on the utility and acceptability of video animation as a delivery method for educational materials for families and carers of patients with congenital hyperinsulinism in infancy

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    • Development of a feasible intervention to support communication with young people

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    • Determination of pancreatic hormones in children with different forms of hyperinsulinaemic hypoglycaemia

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    • Congenital hyperinsulinism due to SUR1 (ABCC8) mutation in newborn twins: improvement of clinical outcome after eight years follow-up

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    • Digenic mutation resulting in a rare form of diazoxide responsive congenital hyperinsulinism

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    • The use of glucagon in the treatment of hypoglycaemia due to congenital hyperinsulinism

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    • An incidental finding of an abdominopelvic macrocystic lymphangioma in a girl with Turners syndrome

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    • Usefulness of bedside ketone testing in the evaluation of children with hypoglycaemia

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    • Isolated postprandial hyperinsulinaemic hypoglycaemia in children

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    • Case of raised creatinine in a newborn with congenital hyperinsulinism: diazoxide induced acute kidney injury

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  • Obesity
  • • Leptin replacement improves central ventilation in a patient with congenital leptin deficiency: first report in childhood

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    • Psychological sequelae in obese paediatric patients and predictors for weight loss

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    • Obesity: a diagnostic dilemma

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    • A modified macronutrient diet for children with Prader-Willi syndrome does work

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  • Other
  • • Effect of dietetic management on weight in children with Bardet-Biedl syndrome

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    • A distinct population of islet cells defines diffuse congenital hyperinsulinism in infancy but not other forms of the disease

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    • Body surface area estimation in girls with Turner syndrome: implications for interpretation of aortic sized index

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    • Cardiovascular assessment in Turner syndrome: current practice in the UK

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    • Positive thyroid peroxidase antibodies at diagnosis of type 1 diabetes mellitus is associated with earlier onset of thyroid disorders

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    • Hypomagnesaemia due to lead poisoning in the context of a heterozygous CLDN-16 mutation

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  • Pituitary and growth
  • • Case series evaluating phenotypical and radiological signs of patients with SHOX mutation

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    • Final adult height and childhood growth trajectories in a cohort of preterm infants

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    • Does better adherence to GH treatment using jet rather than needle delivery translate into improved growth outcomes?

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    • Overcoming the need for a second test: an evaluation of anthropometric, biochemical, and radiological parameters in the diagnosis of GH deficiency

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    • Childhood somatotroph pituitary adenomas due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations

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    • Acid-labile subunit deficiency: a case report

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    • Manifestations of overt diabetes on GH treatment

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    • Achieving a consensus on managing idiopathic thickening of the pituitary stalk through a national multidisciplinary forum, meeting virtually

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    • A rare case of congenital hyperinsulinism associated with hypopituitarism due to pituitary stalk interruption syndrome

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    • Radiolucent hand outline: a simple intervention to improve quality of bone age X-rays

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    • Cost feasibility study: performing GH stimulation test only not full anterior pituitary function tests for simple short stature

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    • Skeletal disproportion in Turner syndrome

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    • Endocrine outcomes in hypothalamic hamartoma: a single-centre study

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    • Growth monitoring in girls attending a tertiary paediatric ENT service with middle ear disease

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    • Growth monitoring and use of growth hormone in children with renal failure

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    • GH deficiency and phenotypic features in four cases of 22q11.2 deletion syndrome

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    • Brain or the kidneys? Nephrogenic Diabetes Insipidus with loss of Pituitary brightness on MRI.

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    • Mosaic form of Turner's can be associated with normal stature and spontaneous puberty: a case report.

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  • Thyroid
  • • Auditing the congenital hypothyroidism (CHT) screening programme in the North East and Cumbria region

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    • Combined hypothyroidism and hypoparathyroidism in an infant following maternal administration of Iodine131 in early pregnancy

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    • Massive pericardial effusion secondary to undiagnosed severe hypothyroidism in a child with neurodisability

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    • Scottish mothers and babies at Yorkhill (MABY) thyroid health study - preliminary report

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    • Apraxia of eyelid and hypothyroidism

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    • Hypothyroidism presenting as child psychosis. A rare finding.

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    • Clinical review of the identification and management of infants born to mothers with thyroid disease - is there a role for routine testing of maternal TRAB in the current practice?

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    • Neonatal thyrotoxicosis - a single centre case series

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    • Combination T₃/T₄ therapy in paediatric patients with autoimmune hypothyroidism unresponsive to T₄ therapy alone

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    • Audit on CH diagnosis and management in UHNM

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