hrp0086p1-p22 | Adrenal P1 | ESPE2016

An Assessment of the Hypothalamic–Pituitary–Adrenal Axis in Children with Prader–Willi Syndrome

Kyriakou Andreas , Lewis Sarah , Coveney John , Roche Edna F.

Background: In children with Prader–Willi Syndrome (PWS), hypothalamic dysfunction plays a key role in the development of aberrant energy regulation, sleep-related breathing disorders, hypogonadism and impaired linear growth. Dysfunction of the hypothalamic–pituitary–adrenal (HPA) axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Method: Thirty-one (10M/21...

hrp0086p2-p299 | Diabetes P2 | ESPE2016

Initial Presentation of Subjects with Type 1 Diabetes: A Change in Spectrum

John Mathew , Jagesh Rejitha , Alex Asha , Gopinath Deepa

Background: The classical presentation of type 1 diabetes mellitus is as diabetic ketoacidosis. As health awareness and access to healthcare improves, more subjects with type 1 diabetes are diagnosed early and present with less severe forms of hyperglycaemia. India accounts for most of the children with type 1 diabetes in South East Asia, but studies on the initial presentation is lacking from India.Objective and hypotheses: The aim of the study was to a...

hrp0086p1-p550 | Perinatal Endocrinology P1 | ESPE2016

Persistent Ketotic Hypoglycemia as an Atypical Presentation of Heterozygous HNF4A Mutation

von Oetting Julia , Mitchell John , Cloutier Daphne , Yau Daphne

Background: Heterozygous loss-of-function HNF4A mutations are known to lead to monogenic diabetes, and in infants to macrosomia and hyperinsulinemic hypoglycemia. We are reporting a patient with a heterozygous HNF4A mutation (c.997C>T p.ARG333Cys) presenting with persistent ketotic hypoglycemia.Case report: In a 38 weeks’ gestation infant (birth weight 4.1 kg, pregnancy complicated by insulin-requiring gestational diabetes), hy...

hrp0086p2-p653 | Growth P2 | ESPE2016

Improving the ‘Gold Standard’: The Insulin Tolerance Test Revisited

Daskas Nikolaos , Barton John , Burren Christine , Crowne Elizabeth

Background: The optimal method to assess GH status remains controversial. GH provocation tests are used and the Insulin Tolerance Test (ITT) is regarded as the ‘gold standard’ to diagnose GH deficiency (GHD). The original selection of 0, 20, 30, 60, 90 and 120 min time points is still used in many protocols worldwide, but variations have evolved.Objective and hypotheses: Comparing standard ITT (StdITT) to a revised (RevITT) protocol.<p clas...

hrp0084p2-305 | DSD | ESPE2015

‘www.steroidogenicfactor-1.info’: An Online Database of Variants in Steroidogenic Factor 1 (SF-1, NR5A1) and Resource for Families and Professional Healthcare Providers

Suntharalingham Jenifer , Buonocore Federica , Duncan Andrew , Achermann John

Background: Steroidogenic factor 1 (SF1), encoded by the gene NR5A1, is a member of the orphan nuclear receptor superfamily and important regulator of gonadal and adrenal function. Variations in SF1 lead to a spectrum of conditions including 46,XY DSD, hypospadias, adrenal insufficiency, male factor infertility, and primary ovarian insufficiency. Inheritance patterns can be complicated (e.g. de novo dominant, sex-limited dominant, and autosomal recessive). In...

hrp0094p1-96 | Thyroid A | ESPE2021

Thyroid storm and transient bulbar myopathy in a 22-month-old girl with Graves’ Disease

Sandy Jessica , Brungs Rosemary , Neville Kristen , Lawson John ,

22-month girl presented with 3 days of cough and fevers, 2 weeks of rhinorrhoea and frequent “clearing of throat” and 6 months of diaphoresis and growth spurt. On examination, she was flushed and diaphoretic with a large goitre. She had a low grade fever (T=37.9) with signs of cardiac compromise (bounding pulse sinus tachycardia [HR=200bpm]. She was hypertensive [BP=145/90mmHg] and tachypnoeic [RR=36/min] with respiratory distress and right-sided crepitations. She ha...

hrp0098p2-74 | Diabetes and Insulin | ESPE2024

Incidence and modes of presentation of childhood type 1 diabetes mellitus in Malta between 2012 and 2023

Borg Olivier Jessica , Formosa Nancy , Torpiano John , Calleja Neville

Aim: To assess the incidence and mode of presentation of type 1 diabetes mellitus (T1DM) in children and adolescents younger than 16 years of age between January 2012 and December 2023 in Malta. This was done as a follow up study to a previously published paper describing the incidence of T1DM in Malta between 2006-2010.Methods: A nationwide retrospective study which collected data from newly diagnosed T1DM children who ...

hrp0092fc5.1 | Thyroid | ESPE2019

Randomised Trial of Block and Replace Versus Dose Titration Antithyroid Drug Treatment in Children and Adolescents with Thyrotoxicosis

Wood Claire , Cole Michael , Donaldson Malcolm , Dunger David , Matthews John , Pearce Simon , Cheetham Tim

Background: First line treatment for thyrotoxicosis is thionamide (TA) antithyroid drug therapy. The TA used is usually Carbimazole in the UK. TA can be administered in a relatively large 'blocking' dose that prevents endogenous thyroid hormone synthesis, requiring thyroid hormone replacement (block and replace or BR), or in a smaller dose that renders the patient euthyroid (dose titration or DT). The American Thyroid Association (ATA) recommends DT be...

hrp0092p2-253 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Complexities of Diagnosis in 17-Beta-Hydroxysteroid Dehydrogenase Deficiency and Implementation of Next Generation Sequencing in Guiding Management Decisions – Case Series of Six Patients

Taylor-Miller Tashunka , Barton John S , Burren Christine P , Woodward Mark , Alderson Julie , Crowne Elizabeth C

17-beta-hydroxysteroid dehydrogenase (17-beta-HSD3) deficiency is an autosomal recessive 46XY disorder of sex development (DSD), which results in impaired gonadal androstenedione conversion to testosterone. The phenotype ranges from female to ambiguous genitalia, with wolffian-duct structures and testes. HCG stimulation tests assess testosterone biosynthesis, though biochemical results in confirmed 17-beta-HSD3 deficiency may overlap with gonadal dysgenesis making diagnosis ch...

hrp0089fc14.5 | Multisystem Endocrine Disorders | ESPE2018

Pubertal Females Produce an Enhanced Interferon-Alpha, Anti-viral Response Compared to Males, Which is Associated with X Chromosome Number, and Not Sex Hormones

Webb Kate , Butler Gary , Ciurtin Coziana , Peckham Hannah , Radziszewska Anna , Wedderburn Lucy R , Ioannou John

Introduction: Very little is known about the development of the immune system during puberty. Autoimmune diseases, like juvenile onset systemic lupus erythematosus (jSLE), have an unexplained female bias and a higher incidence after puberty. IFN alpha (IFNα) is a potent antiviral cytokine, and jSLE has a strong IFNα transcriptional signature. Toll like receptors 7 and 9 (TLR7/9) sense viral RNA and DNA respectively, and trigger plasmacytoid dendritic cells (pDC) to p...