ESPE Abstracts

Background: The growth pattern of normal children was inappropriately used to evaluate those who with DSD.Objective: To understand growth and development of the 46, XY disorders of sex development (DSD) children, drawing height, weight and BMI curve of children with 46, XY DSD at the age of 0–16.Method: The registration database was used in this study. Non- CAH 0-16 years old 46, XY DSDs were collected. Growth curves were fitt...

Background: The effects of GH deficiency (GHD) and GH replacement therapy (GHRT) on body composition and functional measures of physical fitness are largely unknown particularly in children.Study aim: To evaluate body composition, muscular strength and flexibility, and exercise tolerance in GHD children at baseline and after one-year GHRT.Patients and methods: We enrolled 19 children and adolescents with untreated ...

Cystic Fibrosis (CF), is due to CF-transmembrane-conductance-regulator (CFTR) loss-of-function. Significant heterogeneity exists between patients, suggesting potential epigenetic regulation, and comorbidities develop with time. MiRNAs are non-coding RNAs that act as epigenetic regulators. Although many studies have focused on the role for miRNAs in regulating CFTR gene expression, little attention has been given to how CFTR influences their expression and how this affects grow...

The growth response in patients undergoing GH treatment is variable depending both on the patient's basal conditions and on personal innate sensitivity to therapy. MicroRNAs (miRNAs) are epigenetic regulators of gene expression, and are recognised as important regulators of biological and metabolic processes. It is unknown at present whether miRNAs could be early biomarkers of response to GH treatment in a perspective of individualised medicine, and whether they could disc...

HMGB1 is a small-protein which reflects both inflammation and insulin-sensitivity. Inflammation and insulin-resistance are features of PCOS. IL-6 is important for ovarian function and can contribute to insulin-resistance. IGFBP-2 behaves like an acute-phase protein and is increased in chronic inflammation. It is also involved in the glucose-metabolism regulation and IGFBP-2 overexpression plays a protective role against insulin-resistance. Insulin functions as a co-gonadotropi...

Background: MicroRNAs (miRNA) are small non coding RNA molecules, key regulators of metabolic pathways. Obesity is characterised by many metabolic changes. NAFLD is seen as a complication of obesity. FOXO-1, key regulator in insulin signalling, has been shown to be implicated in NAFLD. We previously identified miRNAs regulators of the FOXO-1 gene.Objective and hypotheses: To assess in serum whether the regulation of miR-146a and miR-486-5p, FOXO1 gene re...

Primary hyperparathyroidism is a condition characterized by one or more hyperfunctioning parathyroids leading to hypercalcemia and inappropriately normal or elevated levels of parathyroid hormone (PTH). Clinically it can occur asymptomatically or manifests with osteopenia, increased risk of pathological fractures, nephrolithiasis, gastrointestinal symptoms (vomiting, constipation, abdominal pain) or asthenia. We report the case of A.L.M, a 15-year-old female who went to the Em...

Introduction: Septo-optic dysplasia (SOD) is an uncommon, highly heterogeneous entity of multifactorial etiology, consisting in the association of 2 or more of the following characteristics: ophthalmological abnormalities [most frequently optic nerve hypoplasia (ONH)], midline brain abnormalities [such as aplasia/hypoplasia of the septum pellucidum (SP) and/or corpus callosum (CC)] and variable degree of hypotalamo-pituitary insufficiency (HPI)<p class="ab...

Wolf-Hirschhorn syndrome is a genomic disorder caused by 4p16.3 deletion with facial dysmorphology, growth retardation, developmental/intellectual delay and seizures. After 165 kb critical region encompassing NSD2 was identified, most recently, three NSD2 loss of function variants was uncovered in patients with overlapping phenotype with Wolf-Hirschhorn syndrome. In our study, a NSD2 variant, c.1577dupG (p.Asn527fs*14) was identified in two patie...

Objective and hypotheses: The purpose of this research is to establish reference intervals for the steroid hormones of 6 to14 year-old normal male children using LC-MS method; study the variation pattern of steroid hormones in terms of different ages and Tanner stages of puberty.Method: A total of 1175 male children from 6 to 14 years old from Shunyi District, Beijing, have participated in this research, with 820 children determined as normal-weight. Pre...