ESPE Abstracts

Background: The genetic etiology of Type 1 Diabetes (T1D) is well recognized, with over 60 loci being identified to date, mainly through genome-wide association studies (GWAS). Most of these genetic associations involve common variants, while a sizable portion of the missing heritability of T1D could be attributed to unidentified rare single nucleotide polymorphisms (SNPs) (minor allele frequency (MAF) < 5%). The recent availability of large human whole genome sequencing d...

Background/Aims: Childhood obesity has increased markedly during the past decades.The aim of the study was to examine the changes in trends of severe obesity and related comorbidities among children and adolescents referred for evaluation at the obesity clinic in a tertiary care center in Israel.Methods: The study included patients aged 2-18 years referred for evaluation due to obesity (BMI > 9...

Context: Delayed TSH elevation (dTSH) is defined as elevated TSH in the second neonatal screen following normal TSH in the initial screen. The clinical outcome of newborns with dTSH is not entirely elucidated, although several studies have suggested a full recovery in most cases.Objective: We aim to elucidate the natural history of dTSH in a group of neonatal intensive care newborns. In addition, we aim to define clinica...

Background: Delayed TSH elevation (dTSH) is defined by normal TSH on the initial neonatal screening followed by elevated TSH on the second screen. Several studies concluded that dTSH is associated with low birth weight (BW) and is mostly transient.Objective and hypotheses: To elucidate clinical characteristics of dTSH in a large cohort of neonatal intensive care unit (NICU) newborns.Method: Clinical data were gathered from a cohort...

Introduction: Patients with Turner syndrome (TS) diagnosed beyond the age of 12 years present a real challenge for therapeutic management. Indeed, compromises must be made between the progressive induction of puberty and an efficient treatment with growth hormone to have the best possible results.Patients and methods: Our study concerns 18 cases of patients followed for ST in endocrinology consultation (CHU Constantine-A...

Background: Insulin treatment in a very low birth weight neonate having persistent hyperglycemia is challenging. The very recently reported novel human genetic cause of neonatal diabetes due to NKX2.2 pancreatic transcription factor mutations is associated with very low birth weight deliveries.Objective and hypotheses: To study the diagnostic process, the molecular genetics, the clinical phenotype, and the significant therapeutic challenges in the manage...

Introduction: Wolman Disease [WD] is a rare, autosomal recessive disease caused by lysosomal acid lipase deficiency and characterized by accumulation of cholesterol-esters and triglycerides primarily in the liver and spleen. Patients present within the first year of life with a rapidly progressive disease.Case: A girl born to consanguineous parents was diagnosed with WD due to characteristic manifestations and family history (genetically confirmed). At t...

Background: The molecular genetics of isolated hypogonadotropic hypogonadism (IHH) has been a subject of interest and recent discoveries. Multiple genetic variants with x-linked and autosomal inheritance are involved in the regulation of the hypothalamic pituitary gonadal axis.Objective and hypotheses: We undertook an extensive genetic evaluation to elucidate a possible genetic aetiology in two brothers with clinical and biochemical evidence of IHH. We h...

Background: Data on the course of puberty and pubertal growth in boys with Type 1 diabetes (T1D) are sparse.Objectives: To study the course of puberty, pubertal growth and final height in boys with T1D as well as possible factors affecting these.Methods: In this retrospective longitudinal study, 68 boys diagnosed with T1D between 1996-2009 who were pre-pubertal at diagnosis and had...

Objective: International Societies for diabetes care are aiming to facilitate and improve the uptake of diabetes technologies. This survey investigated healthcare professional (HCP) evaluation of the role of technology in diabetes care within their centres.Methods: Between April to November 2017, 215 HCPs from six continents (132 Europe, 36 Asia, 23 North and 7 South America, 9 Africa and 8 Australasia) replied to an online survey and provided data for a...