ESPE Abstracts

Background: The European iNCGS registry aims to collect long-term safety and effectiveness information in paediatric patients receiving NutropinAq® for growth failure.Objective and hypotheses: To report patient baseline characteristics and exposure to NutropinAq® per country.Method: International, multicentre, open-label, non-interventional, post-marketing-surveillance study.Results: As of 31-Dec-20...

Background: Treatment with GH of children born SGA allows an increase in growth velocity (GV) and improves adult height. Increased insulin resistance has been described in these patients, which reverts after interrupting GH administration. However, long-term metabolic consequences are not clearly established.Objective and hypotheses: Describe insulin resistance (HOMA-IR index) and auxological development (GV and height) in SGA children treated with GH fo...

Background: We recently identified loss-of-function mutations in makorin ring finger 3 (MKRN3) as a cause of familial central precocious puberty (CPP). Analysis of Mkrn3 expression in the arcuate nucleus of mice showed high expression levels in juvenile mice, with a marked reduction prior to puberty onset, suggesting that MKRN3 inhibits puberty initiation. The function of MKRN3 is not known but based on its amino acid sequence, it is predicted to act as an ubiquitin l...

Introduction: The results of the phase III clinical trial that evaluated the efficacy and safety of the biosimilar recombinant human GH - rhGH - (Omnitrope®, Sandoz) on the treatment of Spanish children with GH deficiency were published in 2011. At the end of the study those patients that were still growing remained on treatment within the usual clinical practice.Objective: To know the values of adult height of the children who participat...

Background and Aims: MicroRNAs play important regulatory roles in cholesterol homeostasis and endothelial dysfunction. The aim of present study was to characterize the expression of miRNAs in overweight/obese adolescents and to identify the possible correlation with metabolic profile and inflammatory biomarkers.Methods: 79 overweight and obese adolescents aged 13.0±2.0 years and 28 normal weight adolescents aged 13....

Background: Medulloblastoma is the most common malignant pediatric brain tumor. Although survival has improved with oncological therapy, late effects such as endocrine consequences are common, especially growth failure and thyroid dysfunction.Methods: Children diagnosed with medulloblastoma in a pediatric hospital between 2004 and 2014 were studied and followed until 2019. Statistical analysis was performed to estimate t...

Though up to fourteen different MODY subtypes have been so far described, there are no studies in the literature which have determined their actual frequency and prevalence in pediatric patients.Objectives: To identify the underlying molecular basis in a cohort of pediatric patients with a suspected clinical diagnosis of MODY by targeted NGS.Materials/Methods: Cohort of 60 patient fulfilling MODY c...

Introduction: The survival rates for childhood cancer have significantly increased over the past decades but the management of treatment-related complications remains challenging. Thus, the introduction of novel drugs requires careful investigation of potential off-target side effects. The developing skeleton is severely affected by the anticancer treatment which may result in growth retardation and short stature. Venetoclax is a selective Bcl-2 inhibitor whic...

Introduction: Thyroid stimulating hormone (TSH) abnormalities are a frequent laboratory test finding, which may hinder thyroid dysfunction. One of the most accurate laboratory methods for testing thyroid function (TFTs) is the radioimmunoassay (RIA) method. RIA is an immunoassay that uses radiolabelled molecules in a stepwise formation of immune complexes. It is a very sensitive in vitro assay technique used to measure concentration...

Background: Hyperprolactinemia can be physiological or due to a pharmacological/pathological cause. It is relatively rare in childhood and poorly described in the literature.Objective and hypotheses: The aim of this study was to retrospectively evaluate the etiology, clinical findings and management of hyperprolactinemia in children.Method: We reviewed the records of 91 children with hyperprolactinemia (Prolactin level >760 mU/...