ESPE Abstracts

Background: Fertility Preservation (FP) in children and adolescents poses unique challenges as efficacy is unproven.Objective and hypotheses: To describe characteristics and evidence for potential fertility in ovarian and testicular tissue cryopreservation specimens (OTCP and TTCP respectively) taken from paediatric and adolescent patients, stratified by age, and prior chemotherapy.Method: Retrospective review of gonadal biopsies a...

Background: TV-1106 (Teva Pharmaceuticals Ltd) is a genetically fused recombinant GH (rhGH) and human serum albumin in development as a once weekly treatment of GH deficiency (GHD) in children and adults. TV-1106 has an extended duration of action compared to daily rhGH treatment, reducing the frequency of injections.Objective and hypotheses: The pharmacokinetics and pharmacodynamics of TV-1106 were evaluated in phase 2 study using non-compartmental anal...

Background: A large percentage of pediatric patients with type 1 diabetes (T1D) do not achieve their glycaemic targets. The most impactful benefit can be achieved by improving the implementation of novel technologies developed to manage diabetes.Objective and hypotheses: Two novel technologies were introduced to help patients with T1D achieve glycaemic control: continuous subcutaneous insulin infusion (CSII) and continuous glucose monitoring (CGM). They ...

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...

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...