ESPE Abstracts

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. The association between T2D and non-alcoholic fatty liver disease (NAFLD) has been described; this increases the risk of coronary heart disease (CHD). Recent evidence suggests that sizes and composition of HDL may be more important that HDL-C levels in predicting CHD. There is not data regarding the HDL subclasses distribution and composition in T2D youths with hepatic steatosis (HE).<p c...

Background: Turner Syndrome (TS) with a 45,X phenotype is generally more severe than TS with mosaicism, but the potential role of the degree of mosaicism in modulating TS phenotype has never been investigated. We assessed the impact of various degrees of 45,X/ 46,XX mosaicism on phenotypic features in a cohort of TS patients.Method: We analysed a cohort of TS with 45,X/ 46,XX mosaicism (percentage mosaicism from peripheral blood lymphocytes, known in <em...

Background: Somavaratan, a novel long-acting rhGH fusion protein with t1/2>100 h, previously demonstrated clinically meaningful improvements in height velocity (HV) and IGF-I in prepubertal GHD children (Moore JCEM 2016).Objective and hypotheses: To evaluate maintenance of somavaratan treatment effects in the 2nd treatment year.Method: After subcutaneous pediatric doses were evaluated in a single dose PK/PD study (<e...

Background: In a recent report we have identified multinodular goiter (MNG) as a condition with an increased risk for thyroid malignancy in children and adolescents.Objective and hypotheses: To report the prevalence and characterization of a prospectively and uniformly followed cohort of pediatric patients with MNG and to retrospectively analyze differences between benign and malignant MNG before surgery in order to identify malignancy predictors.<p ...

Background: The interrelationships between body weight and thyroid status are complex. Serum TSH is typically increased in obese compared with lean individuals. Several mechanisms leading to hyperthyrotropinemia have been hypothesized.Objective and hypotheses: To compare thyroid function and autoimmunity in normal, overweight and obese healthy children and adolescents in our population. To analyse any metabolic risk factor related to hyperthyrotropinemia...

Background: Genomic imprinting causes genes to be expressed or repressed depending on their parental origin. The 1-Mb DLK1-DIO3 imprinted domain is located on human chromosome 14. Gene expression along this cluster is regulated by an intergenic differentially methylated imprinting control region (‘IG-DMR’). In mice, altered gene dosage within this cluster is associated with alterations in embryonic and placental growth.Objective and hy...

Background: VRS-317, a novel fusion protein of rhGH exhibiting delayed clearance, serum half-life generally >100 h, and potential for once monthly dosing, was previously evaluated in a 6-month phase 1b/2a study of weekly, twice monthly or monthly dosing (5.0 mg/kg per month) in prepubertal GHD children (n=64).Objective and hypotheses: We evaluated whether increased VRS-317 dose from 12 to 18 months can offset the decrease in height velocitie...

Introduction: Gliomas are the most common solid tumours during childhood. In children with neurofibromatosis Type 1 (NF1) and optic pathway glioma (OPG), growth hormone excess has been described. However, this phenomenon has not been reported in children with OPG without NF1. We aimed to describe the growth and IGFs/IGFBP3 levels in a large cohort of paediatric patients with non-NF1- associated central nervous system (CNS) tumours.Method...

Background and Aims: Central Precocious Puberty (CPP) caused by the early activation of the hypothalamic-pituitary-gonadal axis is a rare affection that occurs in 0.2% in girls. Clinical signs are suggestive and LHRH-test could be sometimes difficult to use and not always contributive. Gonadotropin assay in twenty-four hours-urinary collection could be an interesting option. The present work intended to evaluate the diagnostic interest of 24-hour urinary gonad...

Introduction: Indonesia, an archipelago with approximately 17,000 islands and 34 provinces has around 4.8 million babies born annually, yet only 2-3% undergo newborn screening (NBS) resulting in high preventable disease burdens. Currently, the country only has 1 newborn screening project which will be relaunched and aimed to cover 30-40% of babies. Health policy plays a huge role in determining the day-to-day lives of children, families, and health professiona...