ESPE Abstracts

Background: Obesity is a disease (2) which is associated with increased morbidity and mortality rate (3) and needs extensive preventive procedures and effective interferences. Children with obese parent are in danger of becoming obese in their adolescence and adulthood even when trying to keep their weight stable.Objective and hypotheses: We aimed to investigate whether parental obesity can trigger obesity in children or not.Method...

Background: Obesity is a disease which is associated with increased morbidity and mortality rate and needs extensive preventive procedures and effective interferences. Children with obese parent are in danger of becoming obese in their adolescence and adulthood even when trying to keep their weight stable.Objective and hypotheses: We aimed to investigate whether parental obesity can trigger obesity in children or not.Method: This i...

Background: Birth weight (BW) is often used as a proxy for gestational age (GA) by studies on preterm birth. Recent data indicate that the terms very-low-birth-weight (VLBW; BW <1500 g) and very preterm (VP; GA <32 weeks) birth are not equivalent with regard to perinatal outcomes and postnatal growth up until final height. It is unknown whether the differences between these terms could be extended to long-term neurodevelopmental outcomes.Objectiv...

Background: Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome, associated with tumors such as pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumors (SLCT), multinodular goiter (MNG), cystic nephroma (CN), embryonal rhabdomyosarcoma (ERMS) or primitive neuroectodermic tumor. DICER1 is involved in the generation of microRNAs (miRNAs), short, double-stranded, non-coding RNAs that modulate gene expression at ...

Background: Hyperthyroidism due to Grave’s disease (GD) in children has a peak incidence between 10 and 15 years of age. It is a rare but serious disorder that if uncontrolled can have serious adverse outcomes on growth and development as well as health. The incidence of GD is believed to be between 0.1 and 3 per 100 000 children in the general population with a prevalence of 1/10 000 children in the US. GD is rare under the age of 5 years.Objective...

Background: Clinical observations of children and adolescents with differentiated thyroid cancer (DTC) patients led us to investigate quality of life and anxiety. Although adult DTC survivors have similar or slightly worse quality of life (QOL), this has not been evaluated in the pediatric population.Objective and Hypotheses: In this cross-sectional pilot study, our objective was to compare QOL and anxiety in adolescents with DTC to patients with acquire...

Background: Genetic defects in the insulin receptor (INSR) are rare. Precise prevalence is unknown and significant clinical heterogeneity exists. Over 120 allelic variants have been described to date, spread throughout the receptor, and few geographical founder effects have been described. In this case series we identify a novel missense mutation in the tyrosine kinase domain of the INSR in three independently ascertained Irish families.Objective and Hyp...

Background: Patients affected by pseudohypoparathyroidism type 1b (PHPI-b) develop resistance to PTH leading to hypocalcemia and hyperphosphoremia, which is often associated with resistance to TSH. PHP-Ib is associated with methylation changes at one or several differentially methylated regions (DMRs) within the GNAS complex locus, located at 20q13.2–13.3. This locus gives rise to several different transcripts (NESP55, XL, A/B), with varying patterns of imprinted expressi...

Introduction: Maturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseases in the pancreatic β–cell that impair insulin secreation. It mostly caused by heterozygous mutations in one of 11 different genes associated with β–cell function. The aim of this study is detection of the distribution of both known and novel point mutations of these genes in Turkish population.Pati...

Background: Although metabolically obese normal weight (MONW) adults are at increased risk of type 2 diabetes and cardiovascular disease (CVD), little is known regarding MONW children.Objective and hypotheses: To characterize lifestyle habits and insulin dynamics of MONW children.Method: Caucasian youth (n=630) aged 8–10 years, with at least one obese biological parent, were studied (QUALITY cohort). We defined MONW c...