ESPE Abstracts

Background: Research on the impacts of achondroplasia on children's functioning and well-being is limited. The purpose of the study was to investigate the impacts of achondroplasia on children's daily lives to support the development of an impact measure of achondroplasia on children's functioning and well-being.Methods: Individual telephone interviews and one parent focus group were conducted in the United S...

Case Description: We report a case of a 7-month old Vietnamese boy who presented with failure to thrive and a Cushingoid appearance from 1 month old. There was no history of exogenous steroid use. On examination, height and weight were <3rd centile. He was Cushingoid with motor development delay. There were multiple large café-au-lait lesions over the sacral region but no limb asymmetry to suggest fibrous dysplasia.En...

Background/Objective: Smoking during pregnancy is known to influence prenatal/postnatal growth of the offspring. We investigated the impact of smoking in the Swedish reference population for new reference for height, weight and BMI, the GrowUp1990Gothenburg cohort.Material/Methods: The study was based on 1907 healthy children (918girls/989boys) born at term in Sweden with Nordic parents and longitudinal growth measurements. 155girls/180b...

Background: Mauriac's syndrome (MS) may occur in patients with poor controlled type 1 diabetes mellitus (DM1), with often ketoacidosis, episodes of hyperglycemia and hypoglycemia, under the dose insulin. MS characterized growth retardation and puberty delay, Cushingoid obesity, moon facies, protuberant abdomen, hepatomegaly with transaminase elevation, dyslipidemia. Now it is a rare syndrome, firstly described by Mauriac in 1930.<str...

Introduction: Quality of life (QoL) is a complex concept with multiple aspects as cognitive and emotional functioning; psychological well-being; general health; physical functioning; and social well-being and functioning. Stressors that appear with cases of Congenital adrenal Hyperplasia (CAH) vary and can present challenges to shared decision making with healthcare providers. Day-to-day care of a chronically ill child affects family finances and dynamics, as ...

Background: In humans, glucocorticoids (GCs) regulate a broad spectrum of physiologic functions, exerting both genomic and nongenomic actions through their ubiquitously expressed glucocorticoid receptor (hGR). The rapid nongenomic actions of GCs are likely to be mediated by membrane hGRs that transduce the glucocorticoid signal via activation of kinases. S-palmitoylation plays an important role in plasma membrane localization and occurs through a highly conserved nine amino ac...

Background: The Short Synacthen Test (SST) is the most popular test of adrenal insufficiency (AI) worldwide. The current SST protocol at Sheffield Children’s Hospital (SCH), UK, recommends measurement of serum cortisol at baseline, then 30- and 60-minutes post stimulation, with a peak cortisol of >429nmol/l constituting a pass. Our practice has evolved to consider near-pass results as “borderline” and patients may be treated with stress do...

Background and Aims: Children with Down's syndrome (DS) are at increased risk of autoimmune conditions including type 1 diabetes (T1D), coeliac and thyroid disease. We previously examined the clinical and immunogenetic characteristics of these conditions in children with DS. An earlier age-of-onset of diabetes was observed compared with children with T1D from the general population despite having decreased frequencies of the established genetic susceptibil...

Objectives: To investigate changes in levels of autoantibodies(Abs) against 21-hydroxylase(21OH) in APECED patients and in patients with isolated primary autoimmune adrenal insufficiency (AI) over time after manifestation of AI.Methods: 24 patients with APECED with AI and 5 patients with isolated autoimmune AI were recruited. APECED was confirmed by finding at least two major components of the disease and/or two mutation...

Background: Cushing's syndrome (CS) is very rare in children and the most common cause is the high doses of glucocorticoids (GC) administered. It is well known that application of potent GCs cause iatrogenic CS (ICS) due to suppressing hypothalamo-hypophyseal-adrenal (HPA) axis and later even adrenal insufficiency (AI). Other side effects of GCs are also seen in these patients.Objective: The aim of this study is to r...