ESPE Abstracts

Background: Automimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an extremely rare autoimmune condition caused by AIRE (autoimmune regulator) gene mutations and characterised by a classic triad of 1) chronic mucocutaneous candidiasis, 2) hypoparathyroidism and 3) adrenal insufficiency. APECED can involve any endocrine or non-endocrine organ. Consequently, clinicians need to be mindful of the great variability in presentation. Although ad...

Objective: Clustering of rare diseases and private founder mutations is a common phenomenon in many founder populations such as Romani. Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by mutations in the CYP21A2 gene. The aim of the study was to estimate the prevalence of 21-OHD and the frequency of particular CYP21A2 gene mutations in the Croatian Romani population. Methods. Data f...

Background: Worldwide, the COVID 19 pandemic has influenced pediatric endocrine care, with quick implementation of telemedicine services, but at the same time suboptimal chronic disease management and delayed presentation/diagnosis. In Romania strict measures imposed between March and May 2020 led to ensuring only outpatient care in this period with telemedicine services reimbursed, but with no specific infrastructure developed for it.<s...

Keywords: pediatric obesity, metabolic syndrome, dyslipidemia, abdominal obesity, cardiovascular risk.Introduction: The prevalence of pediatric obesity is rising globally as well as in Romania and so are the complications of obesity. Dyslipidemia is one of the most frequent complications and is associated with cardiovascular risk even in children or teenagers. Evaluating the degree of obesity and the correlations between...

Background: Alagille syndrome (ALGS) is an autosomal dominant genetic disorder, with highly variable phenotype affecting multiple organs. Commonly presents in infancy or early childhood as cholestasis. Mutations in the notch signaling pathway ligand (JAG1) or its receptor (NOTCH2) lead to ALGS. This pathway is important for the pancreatic development. However,no cases of ALGS with Congenital Hyperinsulinism (CHI) have been reported to date.<p class="abste...

Introduction: Controversy still exists about the effect of GH treatment on linear growth and weight gain (WG) in children with ISS.Aim: To study linear growth and weight gain in children with ISS treated with GH vs those not treated in comparison with treated children with GHD.Methodology: We conducted a longitudinal controlled study on 78 children presented to a pediatric clinic with short stature...

Introduction: A multicenter clinical trial in the US showed that underweight small for gestation (SGA) children responded to GH treatment like non-underweight SGA children. However, data on GH response in short underweight children with the normal birth size is not studied well.Aim: To measure growth response to GH therapy in underweight children versus short normal-weight children with idiopathic short stature (ISS) bor...

ISS is a condition in which the height of the individual is more than 2SD below the corresponding mean height for a given age, sex, and population, in whom no identifiable disorder is present. At presentation, some of these children have relatively low IGF-I levels which theoretically can affect their response to GH therapy. The question is: does GH treatment of these children improve their linear growth compared to no treatment?Aim: We ...

Background/aims: Primary IGF1 deficiency (IGFD)’ is defined by low levels of IGF1 without a concomitant impairment in GH secretion in the absence of secondary cause. The aims of this study were to evaluate the prevalence of non-GH deficient IGFD in prepubertal children with isolated short stature (SS) and to describe their response to GH therapy.Methods: This retrospective study included all children with isolated S...

In ISS is a condition with a height is >2SD below the corresponding mean for age, sex, and population. Thyroid abnormalities reported during GH therapy in GH deficient (GHD) children but not well studied in ISS children on GH therapy.Aim: To investigate effects of GH therapy on TF in a group of euthyroid children with ISS in comparison with ISS group not receiving GH therapy and GHD group on GH therapy.Material...