ESPE Abstracts

Aim: To highlight the role of in-vivo magnetic resonance spectroscopy (MRS), as a non-invasive tool that can clarify the specific etiology of a sellar tumour in a boy with precocious puberty.Case presentation: A 4-year-old boy was admitted due to repeated episodes of focal seizures with fixed gaze, head turn to the right, and postictal drowsiness. Parents reported episodes of inappropriate laughter ("gelastic seizures") in the pr...

Background: Endothelial dysfunction is a macrovascular complication of type 1 diabetes. Children and adolescents with type 1 diabetes may suffer of endothelial dysfunction, irrespective of chronological age and disease duration.Objective and hypotheses: After evaluating the prevalence of early endothelial dysfunction, as measured by mean of reactive hyperaemia in adolescents with type 1 diabetes, at baseline and after 1-year follow-up, we started a 6-mon...

Background: Skeletal dysplasias are characterised by bone-cartilage involvement and impairment of growth and body proportions. Reports of the benefits of GH treatment are difficult to evaluate for the small number of subjects, short period of treatment, few final height (FH) data in groups with and without GH deficiency (GHD).Objective and hypotheses: The aim of our study was to assess FH and body proportions in pts with skeletal dysplasia and GHD.<p...

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: Elastargene 3C (E3C) is a cream specifically designed to improve lipoatrophy in patients with diabetes. It is made by many ingredients, among whom are elastin, arnica, collagen, caffeine, and L-carnitine.Objective and hypotheses: We started a 6-month, double-blind, randomized trial to test the efficacy of E3C in children with type 1 diabetes (T1D) using insulin pump (CSII), in whom infusion set usually left little withe scars.<...

Introduction: Human growth is a multifactorial process involving genetic, hormonal, nutritional and environmental factors. Genome-wide association studies (GWAS) have shown that >400 genes are associated with adult height. African Baka Pygmies represent an isolated and well-confined small population with short stature of unknown etiology. In previous studies we reported an 8-fold reduced GH receptor gene expression and reduced serum levels of IGF-I and GHB...

Background: Children born small for gestational age (SGA) exhibit wide variations in the activity of growth hormone (GH)/insulin–like growth factor–I (IGF-I) axis and this heterogeneity may result in supra physiological concentrations of IGF-I during GH treatment. The long-term effects of elevated IGF-I levels has been a matter of concern. We explored the variations in total IGF-I and bioactive IGF-I and the associations with growth and glucose metab...

According to current recommendations, children with height SDS <-3.0, normal growth hormone (GH) peak in stimulation tests (stimGH) and severe IGF-I deficiency (IGFD) may be diagnosed with primary IGFD and treated with recombinant IGF-I. The need for direct confirmation of GH insensitivity is a matter of discussion. On the other hand, children born small for gestational age (SGA) with no catch-up growth are qualified to GH therapy despite normal GH secretion. The fact that...

Background: Transient neonatal diabetes (TNDM) is commonly caused by a methylation loss in the 6q24 region, either in isolation or as multiple-loci demethylation due to ZFP57 gene mutation. TNDM is biphasic; usually resolves after 2–3 months but often recurs between age 4 and late adolescence.Case: The boy was born at 38 weeks of gestation (birth weight 3340 g, healthy consanguineous Turkish parents, unremarkable pregnancy). He presented at...

Background: Vitamin D deficiency/insufficiency seems to occur frequently in children and teenagers but it is a matter of debate if limits (<20 ng/ml; <30 ng/ml) are correct. Besides its effect in bone metabolism Vit-D is also supposed to have a positive influence in diabetes mellitus 1 (DM1).Objective and hypotheses: To study 25OHD and iPTH values in a group of patients (pts) (n=57) with DM1 without Vit-D substitution (2011), with 1000 I...