Endocrine Abstracts

Contents

• 46th Annual Meeting of the British Society for Paediatric Endocrinology and Diabetes 2018
• • CME Training Day Abstracts
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    • Management of growth and body composition in children with Prader-Willi Syndrome

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    • Approach to a child with recurrent fractures

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    • Structured pathway for management of High HbA1c

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• Main Symposia
• • Endocrine Track 1: Symposium 1
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  • Endocrine Track 1: Symposium 2
  • • Vitamin D - beyond bone

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  • Endocrine Track One: Keynote Speaker
  • • Palaeopathology: diseases and excavations

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  • Diabetes Track 1: Symposium 3
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  • Diabetes Track 1: Symposium 4
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  • Nurses Day for Endocrine Professionals
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• PENS Presentation
• • (1)
  • • Case study - polycystic kidney disease and hyperinsulinaemic hypoglycaemia

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• Diabetes Professionals Sessions
• • Diabetes Professionals Day: Session 1
  • • Empowering type 1 diabetes patients to self-manage by embracing the digital landscape of Diasend

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    • Optimising transition in young adults with diabetes

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  • Diabetes Professionals Day: Session 2
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  • Diabetes Professionals Day: Session 3
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  • Diabetes Professionals Day: Session 4
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• Endocrine Nurse Session
• • (1)
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• Oral Communications
• • Oral Communications 1
  • • Differentiating between SIADH and NSIAD in an infant presenting with hyponatraemia

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    • The complications of a goitre secondary to iodine deficiency

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  • Oral Communications 2
  • • An audit of hypoglycemia screens in paediatric and neonatal patients in two district general hospitals

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    • The relationship of baseline, incremental and peak cortisol following a Short Synacthen Test - single-centre analysis of three years' data

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  • Oral Communications 3
  • • Serial overnight growth hormone profiling in diagnosing growth hormone excess in McCune Albright Syndrome

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    • Haemolytic Uraemic Syndrome (HUS) - a rare cause of diabetes

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  • Oral Communications 4
  • • Hydrocortisone granules in capsules for opening: phase 3 trial in children with adrenal insufficiency and long-term safety data

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    • Gene expression signatures in children with growth hormone deficiency (GHD) and Turner syndrome (TS) predict response to growth hormone

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    • Recommendations for management of paediatric phaeochromocytoma/paraganglioma (PCC/PGL): On behalf of the UK Paediatric PCC/PGL Guideline Development Group

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    • Identification and characterisation of a small-molecule ACTH receptor/Melanocortin-2-receptor antagonist

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    • Delayed or Absent? - use of next generation sequencing diagnostic tools in a UK puberty cohort

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    • Implementation of a novel non-invasive test for monitoring control in individuals with congenital adrenal hyperplasia

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    • Clinical outcomes of focal congenital hyperinsulinism - a UK perspective

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    • Prolactinoma in Childhood and Adolescence - outcomes relating to the size of tumour

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  • Oral Communications 5
  • • Growth outcomes in adolescents and adults with Silver-Russell syndrome and the effects of childhood growth hormone treatment

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    • Screening for co-morbidities in fibrous dysplasia

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    • Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome?

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    • Fourteen years' experience of hydrocortisone pump therapy for cortisol replacement in adrenal insufficiency

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    • New insights into the low dose dexamethasone suppression test in paediatric Cushing's syndrome (CS)

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    • Successes and challenges around cohorted introduction of Burosumab in clinical treatment of X-linked hypophosphataemia (XLH)

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    • A novel GHR pseudoexon mutation causing frameshift and severe postnatal growth failure

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    • Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype

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    • Diazoxide-induced pulmonary hypertension: UK multicentre retrospective study on the risk factors, monitoring approach andmanagement recommendations

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  • Oral Communications 6
  • • A retrospective regional analysis of outcomes during transition of young people with type 1 diabetes

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    • Perceptions of diabetes education: a questionnaire-based survey of 117 patients and families

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    • Has the reduction in maintenance fluid rates following introduction of 2015 BSPED-recommended diabetic ketoacidosis guidelines impacted on complication rates?

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  • Oral Communications 7
  • • DeAPP (Diabetes Education APP): using flipped learning to deliver structured education in newly diagnosed type 1 diabetes patients

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    • Provision of psychology services for children and young people with diabetes: a national survey

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    • The determinants of skeletal morbidity and fractures in children with type 1 diabetes

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    • Parental language proficiency and glycaemic control in children with type 1 diabetes

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    • Diabetes control is worse in children and young people with type 1 diabetes requiring interpreter support

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    • Type A Insulin Resistance Syndrome due to an INSR mutation Presenting with diabetes mellitus evolving to hyperandrogenism and PCOS

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    • Knowledge and confidence of paediatric middle grade doctors in managing out of hours diabetes advice calls

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    • Continuous glucose monitoring with regular clinical review of glycaemic control in children with type 1 diabetes experiencing frequent unpredictable hypoglycaemia

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  • Oral Communications 8
  • • Five year outcomes in a cohort with hypoglycaemia due to congenital hyperinsulinism

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    • The effect of GnRHa treatment on bone density in young adolescents with gender dysphoria: findings from a large national cohort

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    • Attitudes toward fertility and reproductive health among transgender adolescents

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• Poster Presentations
• • Adrenal
  • • A Cochrane Review of glucocorticoid replacement regimens in the treatment of 21-hydroxylase deficiency congenital adrenal hyperplasia

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    • Borderline peak plasma cortisol following Synacthen stimulation - single-centre analysis of three years' data

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    • Differences in hydrocortisone absorption during the 24 hour period in patients with adrenal insufficiency

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    • Adrenocortical function in infants admitted to PICU

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    • Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction

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    • Questionnaire survey identifies timing of last dose of hydrocortisone as important determinant of side effects

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  • Bone
  • • Impact of type 1 diabetes mellitus on skeletal integrity and strength assessed by HRpQCT

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    • Incidental morphological findings on bone age radiographs: their importance in clinical diagnosis

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    • A case of persistent hypercalcaemia, following accidental denosumab administration

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    • Changes in bone mineral density from age 10 to 30 years in individuals with cystic fibrosis

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    • Congenital hyperinsulism of infancy in a child with autosomal dominant hypocalcaemia type1 due to an activiting calcium sensing receptor mutation

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    • An unusual case of an infant presenting with Tetany and seizures secondary to phosphate supplementation

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  • Gonadal
  • • Pubertal induction among girls with turner syndrome: an audit of practice from 2008-2017

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    • Turners syndrome - clinical presentation, genetics, investigation and management: a 10 year review

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    • A review of region-wide consultant knowledge of the management of disorders of sexual development (DSD)

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    • Paediatric doctors' experience and knowledge of the initial management of neonatal ambiguous genitalia

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    • XY-DSD due to haematological chimerism in twin pregnancy

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    • Adolescents with HH: what outcome do they want from the gonadotropin stimulation process?

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  • Growth
  • • The challenges of managing pituitary gigantism

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    • Adherence and long-term outcomes of growth hormone therapy in patients from the UK: the easypod connect observational study (ECOS)

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    • You are what you eat: gonadotrophin independent precocious puberty

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    • Optimising diagnostic performance of IGF-I and IGFBP-3 measurement: importance of reference range and cut-off value

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    • Genotype-phenotype correlation in patients with homozygous GHR pseudoexon (6Ψ) mutation

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    • The phenotype and cardio-metabolic associations of Silver-Russell syndrome in an older cohort and the effects of childhood growth hormone treatment

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  • Miscellaneous Endocrinology
  • • Using a testicular simulation model as an educational tool to improve testicular volume estimations

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    • Audit of transition pathway to adult services for girls/young women with turner syndrome

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    • A 10 year experience of the management of severe hypocalcaemia associated with thymus transplantation in a United Kingdom tertiary centre

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    • Using CRISPR/Cas9gene editing to study the molecular genetics of congenital hyperinsulinism

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    • Fertility preservation for transgender adolescents: The parent's view

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    • Gonadotropins and free testosterone in obese adolescent males: relationships to depressive symptoms

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    • Are caucasian children at risk of sub-optimal vitamin D levels?

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    • Novel HNF1Avariant associated with congenital hyperinsulinism in infancy and maturity onset diabetes of young (MODY 3) in later life

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    • Hypoglycaemia in paediatrics - a quality improvement project

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    • Use of recombinant human growth hormone in a neonate with Prader Willi Syndrome to improve respiratory status

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    • Outcomes of a quality improvement project integrating continuous glucose monitoring systems into the routine management of neonatal hypoglycaemia

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    • PTRF novel mutation causing congenital generalized lypodistrophy type 4

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  • Thyroid
  • • Long-term outcomes of thyroid function in babies with Down syndrome and congenital or early hypothyroidism

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    • Isolated central congenital hypothyroidism (CCH) due to (Immunoglobulin SuperFamily member 1) IGSF-1 gene deficiency

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    • MEN2B and MTC: the challenge of early diagnosis

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    • Single UK tertiary centre experience of newly presenting thyrotoxicosis in childhood and adolescence (2013-2018)

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    • Impact of iodine deficiency on thyroid function in vegan siblings

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    • Audit of management of neonates born to mothers with thyroid disorders

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  • Diabetes
  • • A rare and unexpected cause of diabetes in a teenager

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    • Coming off the insulin pump- outcomes from a single centre

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    • Audit on the recognition and response to hypertension in young people with type 1 diabetes mellitus

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    • Diabetic retinopathy in childhood - patient profiles

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    • Use of diluted insulin in the management of very young children with type 1 diabetes: case report and literature review

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    • A survey of the use of medical identification in children and young people with diabetes at a large children's hospital

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    • Audit to look at the effectiveness of sensor augmented pump in managing type 1 diabetes mellitus

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    • Improved inpatient hypoglycaemia management following implementation of a multipronged strategy

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    • Using quality improvement [QI] in diabetes care to drive better outcomes for newly diagnosed patients - experience of RCPCH QI Programme

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    • Network-wide audit of 'hypo supplies' availability in children and adolescents with type 1 diabetes mellitus - interim results

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    • RCPCH QI diabetes collaborative: improving the clinic experience

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    • Paediatric diabetes education and empowerment quality improvement project

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    • Type 1 diabetes cohort with HbA1c ≤ 48 mmols/mol April 2017 - March 2018 - what have we learnt?

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    • Can Download Clinics' improve diabetes metabolic control?

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    • Experience of FreeStyleLibreuse in the management of an asymptomatic child in the pre-diabetes state

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    • Co-designing purpose between three hospital diabetes teams within the same trust

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    • Moving on: a review on the diabetes transfer care of young people

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    • KISS Advanced Bolus System for managing the post-prandial glycemic effect of fat and protein in young people with T1D

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    • An annual review questionnaire in children and young people with type 1 diabetes

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    • A case of HHS mixed with DKA and severe hypernatraemia

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    • Audit of management of diabetic ketoacidosis in children and young people at the Children's Hospital for Wales

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    • Are we getting it right? An evaluation of diabetes transitional service at a district general hospital

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    • Pump Vs MDI: Which is the superior treatment option for the management of type 1 diabetes in the paediatric population?

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    • Characteristics of pre-school children diagnosed with type 1 diabetes at University Hospital of Leicester

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    • Annual lipid checks in children and young people with Type 1 Diabetes: Just statin the obvious

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    • Additional appointments for children and young people with high HbA1c: Does it work?

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    • Standardising the management of hypoglycaemia in paediatric patients with type 1 diabetes mellitus

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    • A diabetes transition programme: outcomes and scope for improvement

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    • Psychological spectrum in DM1

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    • Deaths within the first year of handover from transition diabetes clinic

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    • Case series of monogenic diabetes due to HNF1B mutation

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    • Feeding and autoimmunity in down's syndrome evaluation study (FADES)

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    • Audit of HbA1c improvement in newly diagnosed type 1 diabetes paediatric patients in Gloucestershire Hospitals NHS Foundation Trust

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    • Our experience in the use and effect of insulin dugludec in children with diabetes in a secondary care setting

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    • Maturity onset diabetes of the young (MODY): A report of 7 related and unrelated cases in a university hospital

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    • Optimal use of resources and teamwork improves glycaemic control in a multi-ethnic population-Evidence from the National Paediatric Diabetes Audit (NPDA)

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    • Introduction of carbohydrate counting from diagnosis is associated with significant reduction in HbA1c in children with type 1 diabetes

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    • An alternative approach to beating the September school rush!

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    • A review of the freestyle libre's use in a paediatric clinic over 3 months

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    • Impact of transition on diabetes related outcomes

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