ESPE Abstracts

Background: The Phosphoglucomutase 1 (PGM1) enzyme plays a central role in glucose homeostasis by catalyzing the inter-conversion of glucose 1-phosphate and glucose 6-phosphate. Recently, PGM1 deficiency was recognized to cause the congenital disorders of glycosylation (CDGs). PGM1 deficiency is a rare, autosomal recessive inherited disease which can cause the extreme variability of clinical symptoms multi-organ dysfunction, including ketotic hypoglycemia, dilated cardiomyopat...

Background: Noonan syndrome (NS) is generally considered an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. The latest research confirmed the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1. In this study, we diagnosed 55 Chinese NS Children via targeted sequencing or whole exome sequencing (TS/WES).<p ...

Background: Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. 45,X/46,XY mosaicism results in a large clinical spectrum of DSD including from female patients with Turner’s syndrome to normal appearing males.Objective and hypotheses: The main aim of this study is to review the clinical and gonad histological findings in a cohort of chromosomal DSD patients f...

Iodide (I−) transport defect (ITD) is an autosomal recessive disorder caused by the inability of the thyroid follicular cell to actively accumulate iodide. Active I− accumulation is mediated by the Na+/I− symporter (NIS), an integral plasma membrane glycoprotein located on the basolateral surface of thyrocytes. The diagnostic criteria for ITD include a variable degree of hypothyroidism and goiter, low to absent thyr...

Introduction: Small-for-gestionational-age newborns (SGA-NB) may present subsequent comorbidities affecting their metabolism, growth, and development. Analysis of changes in serum proteome profile expression in SGA-NB may provide physiopathological information and help to identify postnatal biomarkers.Aim: To compare serum proteome profiles in SGA vs AGA newborns, stratified by gestational age.Study population and method: The study...

Background: Infantile obesity is nowadays a pandemic disease and needs a paediatrician interventional attitude. Since 1990 until 2010 it has trebled and the World Health Organization recommends prevention ‘as soon as possible’ even during the first year of life. A Spanish study (Aladino 2011) stimated the prevalence of overweight in boys as a 26.3% and in girls a 25.9% and the prevalence of obesity as a 22% and a 16.2% respectively. Our aim was to set up a new score ...

Background: Small-for-gestational-age (SGA) newborn infants (NB) may present long-term comorbidities influencing their metabolism, growth and/or development. Although their serum proteome is unknown, altered expression of the proteome profile may provide information on their physiopathology and lead to the discovery of biomarkers for postnatal complications.Aim: To detect changes in the serum proteome in SGA-NB vs adequate-for-gestational-age (AGA) newbo...

Background: CHRYSTAL (Costs and Health Related qualitY of life Study for Type 1 diAbetes mellitus pediatric patients in Spain) is an observational study conducted in 2014 on a representative sample of 275 patients aged 1-17 years with Type 1 Diabetes Mellitus (T1DM) in Spain.Objective and hypotheses: One of the objectives of the study was to describe the adherence to diabetes care using the Self Care Inventory (SCI), and to compare results by HbA1c level...

Background: Costs and health related quality of life study for type 1 diabetes mellitus (CHRYSTAL) pediatric patients in Spain is an observational study conducted in 2014 on a representative sample of 275 patients aged 1–17 years with type 1 diabetes mellitus (T1DM) in Spain. The study collects diabetes specific health related quality of life (HRQoL) using the Diabetes Module of the Pediatric Quality of Life Inventory (PedsQL). This scale has been identified to be one of ...

Background: The incidence rate of maturity onset diabetes of the young (MODY) and the proportion of different types of MODY will be different in different countries and races. GCK, HNF1A, and HNF4A are the three most common types of MODY, but the occurrence of other rare MODY subtypes in Chinese children is unknown. Therefore, studying the case group of MODY in Chinese children can help deepen understanding of MODY, early identification, and precise treatment....