hrp0084p3-963 | GH & IGF | ESPE2015

The Easypod™ Connect Observational Study: Comparison of Results from Interim Analyses

Davies Peter , Nicolino Marc , Norgren Svante , Stoyanov George , Koledova Ekaterina , VanderMeulen John

Background: The Easypod Connect Observational Study (ECOS) observational study follows children with GHD, SGA and Turner syndrome receiving r-hGH therapy for up to 5 years, with interim analyses each year. The easypod electromechanical auto-injector device enables accurate, real-world digital records of patientsÂ’ adherence to rhGH to be collected for evaluation.Objective and hypotheses: The primary objective of ECOS is to evaluate the level of adher...

hrp0092s7.2 | Adrenal Insufficiency: New Mechanisms, New Therapies | ESPE2019

Novel Insights into the Pathophysiology of Adrenal Insufficiency Syndromes

Achermann John

Primary adrenal insufficiency (PAI) is an important diagnosis to make as it is potentially life-threatening and requires urgent treatment. Although most paediatric endocrinologists have experience of more common conditions such as congenital adrenal hyperplasia (CAH) and autoimmune adrenal insufficiency, more than 30 other genetics causes of PAI exist, as well as physical causes such as haemorrhage. Reaching a specific diagnosis for some of these rarer conditions can have impo...

hrp0082s5.1 | Novel Insights into Hypoadrenalism | ESPE2014

Aetiology of Congenital Hypoadrenalism

Achermann John

Congenital adrenal insufficiency is a potentially life-threatening condition that can present soon after birth in many different ways. The classic presentation is a salt-losing crisis due to mineralocorticoid insufficiency, often between a week and two of life, but babies with predominant glucocorticoid insufficiency can present with other features such as prolonged jaundice, hypoglycaemia and hyperpigmentation. Most children with congenital adrenal insufficiency present to em...

hrp0082wg3.1 | DSD | ESPE2014

Genetic Variation in Human SF-1 (NR5A1): Clinical Consequences for Individuals, Families and Populations

Achermann John

Steroidogenic factor-1 (SF-1, NR5A1) is a key regulator of adrenal and gonad development, and controls transcription of many genes in these endocrine axes. A role for SF-1/NR5A1 in human endocrine conditions was first established 15 years ago when rare individuals with adrenal hypoplasia and 46,XY DSD (testicular dysgenesis, Müllerian structures) were reported. Although it was felt that adrenal failure would be a key feature of SF-1 disruption, in the pa...

hrp0084p3-737 | Diabetes | ESPE2015

Audit Assessing Glycaemic Control in Children Aged Less than 16 Years with Type 1 Diabetes in Malta Over the Period 2013–2014

Formosa Nancy , Torpiano John

Background: Suboptimal glycaemic control in type 1 diabetes, measured by HbA1c, increases the risk for long-term complications.Aims and objectives: To calculate and compare glycaemic control in children with Type 1 Diabetes in Malta in 2013 and 2014. To identify any need to change the way services are structured and delivered.Methods: Almost all diabetic children less than 16 years of age in Malta fall under the same paediatric dia...

hrp0089p3-p222 | Growth & Syndromes P3 | ESPE2018

Development of an Online Learn-pro Module to Support Health Care Professionals Knowledge about Growth and Puberty

Wardhaugh Barbara , Shaikh Mohamad Guftat , Schulga John

Background: The Scottish Paediatric Endocrine Managed Clinical Network is committed to providing equity of care and education across Scotland. A key role is the education of health care professionals and how this is delivered. An extensive survey using a Learning Needs Analysis Tool was completed to ascertain learning needs and their delivery across Scotland. This highlighted the desire to have online learning available to health professionals.Objective:...

hrp0084p3-1098 | Perinatal | ESPE2015

Case Presentation; a Neonate Presenting to a District General Hospital with Isolated Cranial Diabetes Insipidus Evolving to Partial Hypopituitarism

Keelty Gemma , Weerasinghe Kamal , Gregory John

Background: Hypernatraemia in a neonate can be common, and is usually due to high rates of insensible water loss and high urine output and subsequent dehydration. This is commonly resolved with supplementation of feeds.Case presentation: We present a preterm baby born at 35 weeks gestation who was born in good condition, did not require ventilation or intensive care support. The only support required was for feeding and thermoregulation. In the second we...

hrp0084p3-1122 | Pituitary | ESPE2015

Case Series; Central Diabetes Insipidus Presenting to a District General Hospital

Keelty Gemma , Weerasinghe Kamal , Gregory John

Background: In a paediatric setting polydipsia can be a commonly reported symptom which is usually innocent and habitual in nature. Diabetes Insipidus is a rare cause of pathological polydipsia. A high index of suspicion must be used in patients who exhibit other symptoms alongside polydipsia and investigations considered.Case presentation: We present three patients who have presented to a district general hospital within a short period of time with subs...

hrp0095p2-102 | Fat, Metabolism and Obesity | ESPE2022

Long term effect of metformin therapy in children and young people with obesity - A single center experience

Suntharesan Jananie , Pickles Rosanna , John Reed , Apperley Louise , Senniappan Senthil

Introduction: The prevalence of childhood obesity is increasing worldwide, and the management remains a challenge. The mainstay of management is lifestyle modification but if this is not successful, pharmacological agents are considered although the options in children and young people are quite limited. Metformin has been used as an adjunct therapy alongside lifestyle modification in children and young people with obesity. Some studies have shown it to be eff...

hrp0089rfc7.2 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Outcomes of a Quality Improvement Project Integrating Continuous Glucose Monitoring Systems into the Routine Management of Neonatal Hypoglycaemia

McGlacken-Byrne Sinead , Jenkinson Allan , O'Neill Roisin , Murphy John

Introduction: Empirical research studies suggest that continuous glucose monitoring systems (CGMS) are safe and could optimize neonatal hypoglycaemia management. However, they need to be tested within resource-limited, time-constrained clinical practice. CGMS was piloted in our Level 3 Neonatal Intensive Care Unit (NICU) in June 2017. Five key barriers to its effective implementation were identified: i) Lack of NICU staff confidence in device usage ii) Infant discomfort during...