hrp0098ee1.3 | Section | ESPE2024

Genetic testing in rare forms of primary adrenal insufficiency

Achermann John

Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that usually needs urgent diagnosis and treatment. Whilst autoimmune adrenal insufficiency (Addison disease) and other destructive causes are common in teenage years and adulthood, rare genetic forms of PAI are more common in infancy and childhood. Aside from congenital adrenal hyperplasia (CAH) (usually 21-hydroxylase deficiency, 1:10,000-15,000), other causes of early-onset PAI include developmen...

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...

hrp0089p2-p255 | Growth & Syndromes P2 | ESPE2018

Clinical and Cost-Effectiveness of GH Treatment for Children in Wales

Pop Raluca-Monica , Warner Justin T. , Gregory John W.

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...

hrp0089p2-p294 | Multisystem Endocrine Disorders P2 | ESPE2018

British Society for Paediatric Endocrinology and Diabetes Peer Review of Specialised Paediatric Endocrinology Services in the UK - Evaluation of the Process

Schulga John , Mitchell Heather , Musson Pauline , Shaw Nick , Patel Leena

Introduction: The BSPED Peer review programme was developed to provide a regular cycle of independent impartial professional assessment, against agreed quality standards for Specialised Paediatric Endocrine Services (SPES) in the UK.1 The aim is to continuously promote best quality of care for children and young people with endocrine disorders requiring National Health Service treatment at a SPES. We present here an evaluation of the process during this first revie...

hrp0086fc11.6 | Thyroid | ESPE2016

Too many TFTs? A Change in Neonatal Thyroid Function Testing in a Peripheral Hospital in Ireland

Collins Aedin , Geoghegan Aisling , Johnston Niall , Carroll Aoife , Fitzsimons John

Background: Thyroid disorders in the neonatal period can have serious consequences for growth and development. Neonatal bloodspot screening identifies congenital hypothyroidism. Current guidelines both internationally and in tertiary centres in Ireland have moved towards checking thyroid function tests (TFTs) solely in infants of mothers with hyperthyroidism and those identified on neonatal bloodspot screening. The practice in OLOLH, Ireland was that all infants of mothers wit...