ESPE Abstracts

Background: Thyroid dysgenesis has been considered a sporadic disease, but recent observations suggested a possible genetic basis.Objective and hypotheses: The aim of our report is to evaluate the incidence of hormonal and ultrasound thyroid anomalies in siblings of CH patients with thyroid dysgenesis.Method: In Emilia-Romagna Region (Italy) 328 CH infants were diagnosed by neonatal screening between January 2000 and December 2012....

Background: Pancreatic epithelial cells represent an attractive cell source for replacement therapy of type 1 diabetes. Previously, we designed a protocol for expansion of human pancreatic duct-derived cells (HDDCs) and showed their β-cell engineering potential.Objective and hypotheses: In this study, we reprogrammed HDDCs into β-cell-like lineage by over-expressing mRNAs of key pancreatic transcription factors (TFs).Meth...

Background: Human GH is a heterogeneous protein hormone consisting of several isoforms, the most abundant being 22 kDa- and 20 kDa-GH. The availability of analytical methods to measure these GH isoforms might represent a valuable diagnostic tool to investigate GH secretion in short stature.Objective and hypotheses: Aim of the present study was to measure circulating levels of 22 kDa- and 20 kDa-GH in children with different diagnosis of short stature suc...

Objective and hypotheses: We studied the prevalence of deficiency in the short stature homeobox containing gene (SHOX) in short-statured children and analysed clinical and radiological signs.Method: A total of 162 children aged 1–17 years (53% females, 67% prepubertal, median age 6.6 years, median height SDS −1.7) presenting with short stature between 2008 and 2014, were analysed for SHOX mutations by direct sequencing and multiplex ligation p...

Background: The effects of recombinant GH therapy on development of oxidative stress and insulin resistance in girls with Turner syndrome (TS) were observed.Objective and hypotheses: The aim of this study is to examine the longitudinal relationships of oxidative stress markers with the development of insulin resistance during GH treatment in girls with TS.Method: Ten prepubertal girls (aged 12–14 years; median 13.0 years) with...

Introduction: Type 1 Narcolepsy is a rare pediatric condition characterized by central hypersomnia secondary to hypocretin deficiency. It can also involve the neuroendocrine axis, in particular determining obesity and central precocious puberty (CPP).Objectives: The primary aim of this study is the evaluation of endocrine and auxological aspects at diagnosis and during follow-up in children affected with T1N, in treatmen...

Introduction: Children born small for gestational age (SGA) represent a heterogeneous population, displaying different phenotypes for both growth and metabolic status. Low birth length and/or weight increases the risks for not only growth impairment but also for metabolic derangements (cardiovascular disease, hypertension and type 2 diabetes), the latter with an even amplified risk in children with rapid postnatal weight gain. Variability in metabolic paramete...

Background: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder affecting 1:3000 individuals. Endocrine comorbidities have been reported in 1%-3% of all NF1 patients. In children, central precocious puberty (CPP) is the most frequent endocrinopathy (3%). Other endocrinological problems associated with this condition are short stature, growth hormone (GH) deficiency/excess, calcium-phosphate metabolism derangement and decreased bone mineral density...

Background: Next generation sequencing (NGS) has recently been proposed as a primary diagnostic tool in the work-up of children with idiopathic short stature (ISS) and born small for gestational age (SGA). The main limitation of a multi-gene approach is represented by the difficulty in the interpretation of VUS clinical significance.Aim: To identify and characterize genetic variants in a cohort of children born SGA and I...

Background: Managing glucose control in young children with Type 1 Diabetes (T1D) is challenging due to variable insulin needs, sensitivity, and unpredictable eating and activity behaviours. Despite their effectiveness, the majority of the Advanced Hybrid Closed Loop (AHCL) systems is not approved for children under six in many countries of Europe.Aim: To assess and compare the effectiveness of Multiple Daily Injection (...