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...

hrp0084p3-1240 | Turner | ESPE2015

Patients with Turner’s Syndrome Should Have Ophthalmological Examination before Commencing Recombinant GH Treatment

Alsaffar Hussain , Thomason Eleanor , Blair Joanne , Didi Mohammed

Introduction: Turner’s syndrome (TS) is caused by an abnormality of one of the X chromosomes. Short stature or slow growth is one of the first manifestations of TS and it is recommended that GH therapy should be initiated as soon as it becomes apparent that affected girls are not growing normally to optimise final adult height. Idiopathic intracranial hypertension (IIH) is a well-known side effect of GH therapy, and it has also been reported in girls with TS with or witho...

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 ...

hrp0092p1-259 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Disruption of Hypothalamic Regulation of Appetite Associated with Proton Beam Therapy

Sethi Aashish , Didi Mohammed , Mallucci Conor , Thorp Nicola , Hayden James , Pizer Barry , Blair Joanne

Introduction: Proton beam therapy (PBT) is being used increasingly for craniopharyngioma, as it is perceived to be a major benefit. There are some limited data relating to endocrine dysfunction following PBT, but very limited data on hypothalamic disturbance. Here we report two patients who presented with hypothalamic disruption immediately following PBT for craniopharyngioma.Case 1: A 12 year old girl presented with sei...

hrp0092p2-180 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Sudden Death in an Infant Attributed to Arrhythmia Associated with Beckwith-Wiedemann Syndrome due to Hypomethylation of Imprinting Control Region 2 on Chromosome 11p15.5

Petkovic Grace , Sethi Aashish , Apperley Louise , Senniappan Senthil , Blair Joanne , Kokai George , Didi Mohammed

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...

hrp0082p3-d3-655 | Autoimmune Endocrine Disease | ESPE2014

A Conservative Approach to the Management of Endocrine Neoplasia in Carney Complex in an Adolescent Male

Frerichs Carley , Didi Mohammed , Abernethy Laurence , Kenny Simon , Ellis Ian , Blair Joanne

Background: Carney complex (CC) is a rare, dominantly inherited condition due to mutations of the tumour suppressor gene PRKAR1A. Endocrine manifestations include: Cushing’s syndrome (CS) due to primary pigmented nodular adrenocortical disease, pituitary adenomas, testicular neoplasms, thyroid tumours, and ovarian cysts. The management of some of these tumours is controversial.Objective and hypotheses: To describe conservative management of CC.<...

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 &...