ESPE Abstracts

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...

Pediatric obesity is constantly increasing and exposes to serious cardiovascular and metabolic risks. The first treatment against obesity is lifestyle change. Actually, any intervention seems to be effective on the evolution of this condition, especially in the long term. For this reason, the interest in non-pharmaceutical compounds is growing. Several studies mentioned the use of zinc and inositol as compounds acting on weight loss and insulin resistance. The aim of this stud...

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...

Background: Bartter syndrome (BS) and Gitelman syndrome (GS) have similar clinical manifestations. It’s hard to be distinguished by the symptoms and laboratory, even though the genetic analysis cannot identify them precisely. The precise diagnoses associate with the right treatment and prognosis. Hypercalciuria usually involved with neonate type Bartter syndrome, and hypomagnesemia with Gitelman syndrome.Objective a...

Background: SRS is a typical epigenetic disease. Approximately 40% of patients can not be detected genetic and epigenetic disturbances.Objective and hypotheses: To analysis whether there is unknown genes or imprinted genes associated with pathogenicity of SRS and to detect the fine mapping SRS hypomethylation position through the Illumina Methylation 450K chip to detect genome-wide methylation differences.Method: To detect genome-w...

Background: We investigate the efficacy and safety of two different treatments which have not been evaluated in peri-puberty boys with HH.Objective and hypotheses: To assess the effectiveness and safety of pulsatile GnRH or hCG treatment in adolescent boys with hypogonadotropic hypogonadodism.Method: 12 patients received 8–10 μg of GnRH, subcutaneously injected every 90 min using a pump. Another 22 patients received hCG, ...

Background: Nearly half of SRS epigenetic etiology is unknown. Effect of GH in SRS is not exact.Objective: To determine novel gene or imprinted gene associated with pathogenicity of Silver–Russell syndrome (SRS) through detection genome-wide methylation differences. To observe GH efficacy in SRS and the relationship between GH and epigenetic changes.Method: To detect genome-wide methylation site through the Illumina 450K methy...

Background: Heterozygous familial hypercholesterolemia (HeFH) is characterized by severely elevated low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease. European guidelines currently support the initiation of statin therapy by age 8-10 years in patients with HeFH to slow the progression of endothelial disfunction and to reduce the risk of cardiovascular disease in adulthood. However, to date, there is lack of data on adheren...