ESPE Abstracts

Background: Endogenous Neonatal Cushing's syndrome (CS) is a rare condition with around 100 cases reported worldwide. Pneumocystis Jiroveci pneumonitis (PJP) is a well described, albeit rare, complication of exogenous CS (i.e. CS resulting from external glucocorticoids). The pneumonitis usually occurs following reduction of glucocorticoid dosage and is therefore thought to be triggered by an inappropriate immune reaction evident after glucocorticoids withd...

Background: 11-oxygenated 19-carbon (11oxC19) steroids, 11ketotestosterone (11KT) and 11βhydroxyandrostenedione(11OHA4) are adrenally derived steroids that rise in congenital adrenal hyperplasia (CAH). Increased 11oxC19 concentrations are associated with markers of poor control of CAH. To date, 11oxC19 concentrations have not been measured in patients with Addison’s disease (AD).Methods: Children with primary ...

Introduction: Congenital adrenal hyperplasia (CAH) is associated with long-term health problems. However, little is known about co-morbidities and their onset in children and young persons (CYP).Objective: To establish the health status of CYP with CAH across the United Kingdom.Methods: A multi-centre prospective study recruited 102 patients with 21-hydroxylase deficiency targeting...

Introduction: Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) have specific plasma and urinary steroid patterns, with 11-oxygenatedC19 steroids established as key adrenal-specific androgens. Monitoring glucocorticoid (GC) replacement remains a challenge in the absence of reliable biomarkers.Aim: To reassess the urinary steroid profile of children with CAH in relation to plasma ...

Background: Patients with autoimmune Addison’s disease (AAD) lack production of glucocorticoids (GCs), mineralocorticoids (MCs) and androgens from the adrenal gland, due to autoimmune destruction of its cortex. Patients require replacement of GCs and MCs for the rest of their lives. In some cases, testosterone is supplemented in females. Brain function is sensitive to fluctuations in cortisol and may therefore be affected in AAD due to long-term disturba...

Hypertension is a frequent chronic pathology in young diabetics. The association of diabetes and hypertension represents a high risk of morbidity and premature cardiovascular mortality. The aim of this study was to evaluate the frequency of hypertension in young diabetics and to assess the associated morbid factors.Patients and Methods: 357 diabetics aged 3 to 27 years (mean age: 10 years), were followed at the Children's Hospital o...

Backgrounds: There is a no reliable population-based prevalence data of Down's syndrome (DS) in South Korea. In the present study, we try to estimate the incidence and prevalence of DS and cardiac complications in South Korea using data of National Health Insurance Service (NHIS) data and Rare Diseases Registry.Methods: We collected the data on DS patients who registered in the Rare Diseases Registry (RDR) between 20...

Introduction: There is considerable variation in practice when assessing adrenal function in adrenal insufficiency; duration of glucocorticoid defined to confer risk, early morning cortisol assay (EMC), Synacthen test (ST) - both low dose (LDST) (1microgram) or standard dose (SDST) (36microgram/kg [maximum 250micrograms]) and symptomatology. At our tertiary children’s hospital, even between departments, there is variation in those identified as being at ...

Background: Both genetic and environmental factors serve as the trigger of Hashimoto's thyroiditis (HT), but the exact mechanisms are still not fully understood. Increased intestinal permeability was shown to be a constant and early feature of several autoimmune disorders. Although HT is the most common autoimmune disorder worldwide, the role of intestinal permeability in its pathogenesis had received little attention. Human zonulin modulates intracellular...

A gradual reduction of national median HbA1c levels in England and Wales since 2009 can be attributed to development of a network approach to care supported by the National Paediatric Diabetes Audit (NPDA) and a Best Practice Tariff in England, introduced by the Department of Health in 2012. This delivery of a co-ordinated national programme of support for 173 multi-disciplinary teams distributed across over 140 NHS Trusts and Health Boards, has been at risk of plateauing in r...