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...

hrp0094p2-35 | 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...

hrp0095rfc5.3 | Adrenals and HPA Axis | ESPE2022

Towards understanding the metabolic phenotype of glucocorticoid deficiency in 21-hydroxylase deficiency

Bacila Irina , Li Nan , Eachus Helen , Storbeck Karl-Heinz , T Cunliffe Vincent , P Krone Nils

Background: Steroid 21-hydroxylase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia. Patients present with cortisol and aldosterone deficiency as well as with hyperandrogenism, leading to virilisation in females and early adrenarche in both sexes. Requiring life-long glucocorticoid (GC) replacement, patients frequently experience daily fluctuations between GC overexposure and deficiency. Increased prevalence of metabolic disease con...

hrp0095p1-20 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Report of the first paediatric case of hypercalciuric hypocalcaemia managed with simultaneous parathyroid and kidney transplantation

Oprea Alina , Jones Helen , Buck Jackie , Kessaris Nicos , D. Sinha Manish , Ware Nick , Cheung Moira

Background:Calcium-sensing receptors (CaSR) located on parathyroid glands and kidneys act to regulate serum calcium levels. Inherited hypocalciuric hypercalcaemia and autosomal dominant hypercalciuric hypocalcaemia are due to inactivating and activating CaSR mutations respectively. We present the immediate and medium term postoperative clinical course of the first paediatric patient with hypercalciuric hypocalcaemia managed with a simultaneous parathyroid and ...

hrp0095p1-46 | Diabetes and Insulin | ESPE2022

The incidence of Type 1 diabetes mellitus has stopped falling and is rising again in Ireland – a preliminary report from the Irish Childhood Diabetes National Register

Roche Edna , McKenna Amanda , Ryder Kerry , Fitzgerald Helen , Hoey Hilary , O'Regan Myra

Introduction and Aim: The Incidence of Type 1 diabetes mellitus (T1DM) varies markedly between populations and over time. Recently a number of high incidence countries, including Ireland, have reported a stabilisation and/or reduction in their T1DM incidence rate (IR) in childhood. Ireland, a high incidence country for T1DM, experienced a dramatic increase in T1DM incidence between 1997 and 2008, a stabilisation in incidence between 2014 and 2018 followed by a...

hrp0095p1-267 | Fat, Metabolism and Obesity | ESPE2022

Feasibility of integrating an mHealth intervention to increase exercise and physical activity adherence into a weight management service for adolescents with severe obesity: MOTIVATE-WMA

Davies Andrew , Hesketh Katie , Clarke Ellie , Apperley Louise , Sprung Victoria , Jones Helen , Senniappan Senthil , Cocks Matthew

Introduction: The Royal College of Paediatrics and Child Health state that adolescents with significant obesity require access to evidence-based weight management services (WMS). Due to the known benefits of exercise and physical activity (PA) on physiological and psychological outcomes increasing exercise and PA should form a cornerstone of any WMS for adolescents living with obesity. However, supervised exercise interventions face challenges within a clinica...

hrp0095p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Diagnostic and management practices of girls presenting with polycystic ovary syndrome (PCOS)-like symptoms to a tertiary paediatric endocrine clinic.

Solanas Martín Blanca , R. Howard Sasha , R. Hughes Claire , L. Storr Helen , H. Willemsen Ruben

Background: Polycystic ovary syndrome (PCOS) continues to be a diagnostic challenge in adolescent girls. Symptoms like oligomenorrhea and acne, and polycystic ovarian morphology on ultrasound can be normal variants in adolescents. In addition to diagnostic difficulties, there is lack of randomized controlled trials for PCOS treatments specific to adolescents. Current guidelines for diagnosis and management of PCOS in adolescents have large variations and rely ...

hrp0095p2-122 | Fat, Metabolism and Obesity | ESPE2022

Pediatric Endocrine evaluation of Marfan syndrome: A case report

Koutaki Diamanto , Vourdoumpa Aikaterini , Bacopoulou Ioanna , Fryssira Helen , Charmandari Evangelia , Paltoglou George

Background: Endocrine disorders associated with tall stature in childhood are frequently evaluated by Pediatric Endocrinologists. The most common non-endocrine genetic cause of tall stature, Marfan syndrome, is a rare autosomal dominant genetic condition of the connective tissue, which presents with specific dysmorphic features, including thin physique, long extremities and normal growth rate. Little is known regarding the association of Marfan syndrome with o...

hrp0092p1-9 | Adrenals and HPA Axis | ESPE2019

A Simulation-based Intervention Teaching Illness Management Skills to Caregivers of Children with Adrenal Insufficiency: a Randomised Controlled Study

Virtanen Heidi , Pyra Eileen , Schawrz Wendy , Catena Helen , Cripps Amy , Grant Vincent , Cheng Adam , Perry Rebecca

Background: Permanent adrenal insufficiency (AI) is an uncommon but potentially life-threatening condition in children. Patients are at particular risk during times of stress. Thus, caregivers should have good illness management skills. Despite frequent teaching and seemingly good knowledge of illness management we still see a reluctance of caregivers to administer intramuscular (IM) hydrocortisone at home when indicated, preferring instead to drive themselves...

hrp0092p1-352 | Fat, Metabolism and Obesity (2) | ESPE2019

Paediatric Patients with Type 1 Diabetes Mellitus Exhibit Reduced Brown Adipose Tissue Heat Signature Following Cold Stimulation

Law James , Morris David E. , Robinson Lindsay , Randell Tabitha , Denvir Louise , Symonds Michael E. , Budge Helen

Brown adipose tissue (BAT) is a key component of the body's defence against cold challenge and possesses the ability to convert large amounts of chemical energy to heat, conferred by a unique protein, uncoupling protein (UCP)-1, diverting mitochondrial respiration from the production of adenosine triphosphate. In humans, the largest BAT depot is in the supraclavicular region. Sympathetic nervous system stimulation induces glucose uptake into brown adipose tissue, as does i...