ESPE Abstracts

To attain sexual competence, all mammalian species go through puberty, a maturational period during which body growth and development of secondary sexual characteristics occurs. Puberty begins with the reawakening of the gonadotropin-releasing hormone (GnRH) pulse generator. Reduction in inhibitory transsynaptic inputs combined with increased transsynaptic and glial excitatory inputs to the GnRH neuronal network are responsible for pubertal activation of GnRH neuro-secretion. ...

Introduction: To date, there are no clear indications for surgical treatment of nodular goiter in children. Current scheme of diagnostic evaluation thyroid nodules in children is not always justified. A number of patients either go to the removal of thyroid remnants when a carcinoma is found in the histological examination and the need for radioiodine therapy, or are at risk of surgery if the results of the final histology show that the disease is benign.<p class="abstext"...

Circulating Exosomal miRNAs involved in the Pathogenesis of Children Nonalcoholic Steatohepatitis.Background: The incidence of children non-alcoholic fatty liver disease (NAFLD) increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver, there are still a small part of them will progress to nonalcoholic steatohepatitis (NASH), fibrosis and cirrhosis. However, the diagnosis of NASH is b...

Background: Genetic females with congenital adrenal hyperplasia (CAH) from severe 21-hydroxylase deficiency may be declared at birth as cryptorchid boys. Neonatal salt wasting leads to early reassignment but in its absence, the condition may go unrecognized.Case presentation: A term newborn with non-palpable gonads but a penile urethra was declared as boy. At 4.8 years, the child presented with sexual precocity. Height was +2.3 S.D., penil...

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: Constitutional Delay of Growth and Puberty (CDGP) is a transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed bone age and pubertal delay. CDGP can cause significant psychological stress and anxiety in adolescent boys. Although testosterone usage in this group has not been shown to affect the final adult height, the effect on the first year height velocity is not widely reported.Obj...

Background: Over 90% children grow normally, and attain final height within their genetic target. Up to 10% of all children do not spontaneously catch-up by the age 3 years, besides some cases of TS are diagnosed late, and others with SGA go undiagnosed and unattended.Objectives & Hypothesis: Early screening of growth patterns in children attending Child Protection Visits (PMI, France) in Dreux district. Our objective was the evaluation of prevalence...

Background: Elevated blood pressure (BP) may occur from childhood, increasing the risk for hypertension in adulthood.Aim: To investigate the effect of anthropometric characteristics and lifestyle habits in children’s and adolescents’ BP.Methods: 949 children (<12 years old) from Lakonia, 178 teenagers (12–18 years old) from Athens and 372 from Kalamata, Greece, had participated during 2011–2014. A specially ...

Background: Lowe syndrome or oculocerebrorenal syndrome is a very rare condition (1:50 000) caused by mutations in the OCRL1 gene. It is an x-linked disorder characterized by congenital cataracts, renal tubular dysfunction, neurological defects (generalized hypotonia and mental retardation) and growth disorders. Growth pattern in Lowe syndrome has not been described in population-based studies so far.Objective: Descriptive multicenter international study...

Background: Transition is a difficult period for adolescents with type 1 diabetes. The non-linear development of the adolescent brain along with increasing insulin resistance, increasing autonomy and risk of psychopathology means that adolescents are vulnerable to poor mental and physical health and ensuing deterioration in metabolic control. It is also during this period of turmoil that adolescents often transfer from paediatric to adult services.Object...