hrp0092p1-246 | Multisystem Endocrine Disorders | ESPE2019

Knowledge of the Natural History of Paediatric MEN1 is Required to Inform Decision Making for Predictive Testing in Childhood

Park Julie , Collingwood Catherine , Weber Astrid , Blair Joanne

Background: Multiple Endocrine Neoplasia type 1 (MEN1) is a dominantly inherited syndrome characterised by parathyroid hyperplasia, pancreatic neuroendocrine tumours (PNET) and pituitary adenomas, although >20 tumours are described. Clinical guidelines1 recommend annual biochemical surveillance and abdominal imaging from <10yrs and pituitary imaging every 3yrs. Age at start of surveillance is derived from the youngest reported patient with a...

hrp0094p1-10 | Adrenal A | ESPE2021

Glucose regulation in children with primary adrenal insufficiency: preliminary data.

Park Julie , Hawcutt Daniel , Shantsila Helen , Lip Gregory , Blair Joanne

Background: During treatment of adrenal insufficiency (AI) with hydrocortisone (HC), cortisol concentrations are supra-physiological following doses, and low before doses. We speculated that this cortisol profile may result in periods of hyperglycaemia and hypoglycaemia. We describe glucose profiles in the first 18 children recruited to a study of metabolic and cardiovascular profiles in AI. Methods: Children with primar...

hrp0094p2-22 | Adrenals and HPA Axis | ESPE2021

Prevalence of adrenal insufficiency (AI) requiring treatment with hydrocortisone in children tested with the LDSST

Park Julie , Selvarajah Bhavana , Titman Andrew , Blair Joanne ,

Synacthen tests are used widely in paediatric practice for diagnosis of AI. The standard dose test may be more specific and low dose test (LDSST), more sensitive. The LDSST requires dilution of commercially available Synacthen, which may result in unreliable dosing and over diagnosis of AI.Aim: To determine the prevalence of AI requiring treatment with hydrocortisone (a) daily (peak cortisol <350nmol/l) (b) on sick days only (peak co...

hrp0094p2-35 | Adrenals and HPA Axis | ESPE2021

Assessment of blood pressure and carotid intima media thickness (CIMT) in children with primary adrenal insufficiency

Park Julie , Shantsila Helen , Hawcutt Daniel , Lip Gregory , Blair Joanne ,

Background: Increased risk of cardiovascular disease and increased subclinical atherosclerosis have been reported in children with primary adrenal insufficiency (AI), including those with congenital adrenal hyperplasia (CAH), when compared to healthy children. Carotid intima media thickness (CIMT) can be used as an early marker of cardiovascular risk. The severity of adverse metabolic profile has been related to the total hydrocortisone dose and duration of tr...

hrp0095p1-402 | Adrenals and HPA Axis | ESPE2022

Glucose regulation and cardiovascular health in children and young people with primary adrenal insufficiency

Park Julie , Hawcutt Daniel , Shantsila Alena , Lip Gregory , Blair Joanne

Background: Hypoglycaemia and poor cardiovascular outcomes are described in children and young people (CYP) with primary adrenal insufficiency (PAI). In this study, we described cortisol exposure during hydrocortisone replacement therapy, glucose regulation by continuous glucose monitoring (CGM) and cardiovascular function. Here, we present the final study data.Methods: CYP with PAI underwent CGM for 7 days using Dexcom ...

hrp0084p1-104 | Perinatal | ESPE2015

Diazoxide Responsive Congenital Hyperinsulinism in a Patient with Dual Genetic Aetiology (HNF4A and ABCC8 Mutation)

Giri Dinesh , Flanagan Sarah E , Park Julie , Ellard Sian , Didi Mo , Sennaippan Senthil

Background: Congenital hyperinsulinism (CHI) results from unregulated insulin secretion from pancreatic β-cells, which leads to persistent hypoglycaemia. Mutations in nine different genes are reported and phenotypic variability exists both within and between the genetic subgroups. Variable penetrance has been described in some families with the same mutation; for example HNF4A mutations cause neonatal hypoglycaemia and/or maturity onset diabetes of the young (MODY).<p...

hrp0084p2-495 | Hypo | ESPE2015

Rapid Biochemical Evaluation Aids Timely Management of Congenital Hyperinsulinism

Swain Georgia , Park Julie , Stirrup Kelly , Yung Zoe , Senniappan Senthil , Didi Mohammed

Background: Congenital Hyperinsulinism (CHI) is the commonest cause of persistent neonatal hypoglycaemia and is characterised by inappropriately detectable plasma insulin during hypoglycaemia. Management depends on the timely analysis of biochemical parameters, which would help initiate appropriate management and avoid potential neurological compromise. The technical difficulties in sending the appropriate sample and the delay in processing the sample in the lab sometimes cont...

hrp0094fc4.4 | Diabetes | ESPE2021

Effect of newer CFTR modulator therapy on glycaemic control in adolescents with CFRD

Park Julie , Walsh Anna , Kerr Sue , Woodland Clare , Southward Suzanne , Deakin Mark , Thursfield Rebecca , Senniappan Senthil ,

Background: Cystic fibrosis related diabetes (CFRD) affects 40-50% of adults with Cystic Fibrosis (CF) and significantly decreases pulmonary function and affects life expectancy. Previous data highlighted that CFRD may be preventable or curable with the use of CFTR modulators, namely Ivakaftor. Kaftrio (Ivakaftor, tezacaftor and elexacaftor) has recently been licensed for use in CF. To our knowledge, its effect on glucose regulation in children and young peopl...

hrp0095p1-10 | Adrenals and HPA Axis | ESPE2022

Outcomes of the low dose short Synacthen test in infancy

Park Julie , Jones Lily , Dharmaraj Poonam , Senniappan Senthil , Morgan Colin , Hawcutt Daniel , Blair Joanne

Background: The hypothalamic-pituitary-adrenal (HPA) axis may be suppressed at birth. In most infants this is tolerated well. HPA testing in infancy often generates ‘abnormal’ results although abnormalities of the HPA may not be identified and cortisol measurements often ‘normalise’ over time.[1]Aim: To contribute to the evidence base on neonatal HPA activity by reporting outcomes of infants age &...