ESPE Abstracts

Introduction: Childhood obesity is an international pandemic which affects 13% of Canadian youth, and is the leading cause of cardiovascular disease (CVD) in children. While the optimal approach to treat pediatric obesity remains elusive, comprehensive and intensive behavioral interventions which leverage the child’s living environment in order to promote improvements in healthy lifestyles appear promising. The CIRCUIT program (Centre Pédiatrique d’Intervent...

Introduction: The phosphatase and tensin homolog (PTEN) hamartoma tumour syndrome (PHTS) groups related multi-system genetic disorders linked to germline mutations in the PTEN gene. There is an increased risk of thyroid cancer in PHTS, with some cases arising in childhood. Annual surveillance for thyroid cancer by ultrasound is recommended.Case report: A 15 year old female was referred to Paediatric Endocrinology by Clinical Genetics fo...

Introduction: Action4Diabetes (A4D) is a non-profit UK organisation formed in 2016 that is making sustainable and scalable progress to provide quality Type 1 diabetes (T1D) healthcare in Southeast Asia (SEA). A4D provides comprehensive partnership programmes through a Memorandum of Understanding (MOU) signed with the governments in SEA that guarantees ongoing supplies of free insulin, blood glucose testing, HbA1c tests and hospital emergency funds in low-middl...

Introduction: Hypomethylation at the imprinting control region 2 (IC2) on chromosome 11p15.5 is the commonest identifiable cause of Beckwith-Wiedemann Syndrome (BWS). IC2 is located in KCNQ1 intron 10 and is associated with Long QT syndrome (LQTS). A recent consensus statement on BWS1 recommends annual cardiac evaluation with electrocardiogram (ECG) in these patients. The natural history of LQTS secondary to hypomethylation at IC2 in BWS is...

Background: Assessment of care and outcomes in children with diabetes requires on-going monitoring to ensure improvement.Objective and hypotheses: To assess the current quality of care and outcomes for children and young people with diabetes in England and Wales.Method: The National Paediatric Diabetes Audit (NPDA) collates data on the demographic characteristics, care processes and outcomes of all children and young people with di...

Background: BMI in childhood is an indicator of future health.Objective and hypotheses: To assess BMI distribution among children and young people with type 1 diabetes.Method: The National Paediatric Diabetes Audit (NPDA) collates height and weight data on children and young people with diabetes in England and Wales. BMI centiles were calculated using the UK 1990 reference population. Underweight was defined as <5th centile, ov...

Background: GH treatment has been used for the last 30 years for children with short stature with varying individual responses.Objective: Analysis of final height SDS (standard deviation score) and the factors influencing it in children treated with growth hormone.Material and methods: Subjects across Wales who received GH treatment, part supervised by tertiary center staff and reached final height while on treatment, were identifi...

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...

Introduction: We report two siblings presenting with pre-pubertal gynaecomastia and macro-orchidism, who were later diagnosed with Peutz-Jeghers Syndrome (PJS) secondary to a STK11 gene variant. Importantly neither child fulfilled the clinical criteria for diagnosis at presentation, with no muco-cutaneous pigmentation nor gastrointestinal symptoms.Case report: Sibling 1 was referred to Paediatric Endocrinology aged 4 years with ...

A gradual reduction of national median HbA1c levels in England and Wales since 2009 can be attributed to development of a network approach to care supported by the National Paediatric Diabetes Audit (NPDA) and a Best Practice Tariff in England, introduced by the Department of Health in 2012. This delivery of a co-ordinated national programme of support for 173 multi-disciplinary teams distributed across over 140 NHS Trusts and Health Boards, has been at risk of plateauing in r...