ESPE Abstracts

Background: The inheritable component of familial Papillary Thyroid Cancer (fPTC) was recently attributed to monogenic defects in a reduced number of genes including DICER1. DICER1 codes for a ribonuclease of the RNaseIII family essential for the biogenesis of microRNAs.Objective and hypotheses: We aimed to identify germline and/or somatic mutations in DICER1 in a familial pedigree with PTC, multinodular goiter (MNG) and other ...

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by hyperphosphatemia and abnormal deposit of phosphate and calcium most often around the hips, shoulders and elbows and rarely in the brain.Case presentation: A four-year-old-girl from Arabian origin was referred to the regional paediatric endocrine clinic from the Orthopedics Team due to: recurrent calcinosis of the right calcaneus and incipient left wrist pain...

Background: Waist circumference (WC) reflects the fat distribution and the degree of central adiposity in children, which is specifically associated with cardiovascular risk factors and useful as a component of metabolic syndrome definition in children.Objective and hypotheses: To evaluate the distribution of WC measures among preschool children aged 3.5–5.5 years from six European countries.Method: Cross-sectional study of a ...

Background: Childhood obesity is a serious health problem, related to an increased risk of adult morbidity and mortality. Evidence indicates that central adiposity increases this risk to a higher degree compared to the general obesity indices.Objective and hypotheses: To evaluate the distribution of anthropometric obesity indices among preschool children aged 3.5–5.5 years, from six European countries, and to examine their associations with certain ...

Background: In a Phase 3 trial in participants with obesity due to Bardet-Biedl syndrome (BBS) and Alström syndrome, setmelanotide was associated with significant reduction from baseline in body weight and hunger at Week 52 (primary endpoint), with outcomes driven by responses in individuals with BBS.Methods: In the same trial (NCT03746522), individuals with BBS or Alström syndrome were randomized and received ...

Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue non-specific alkaline phosphatase (TNSALP). In children, HPP has a heterogeneous clinical presentation, frequently with nonspecific musculoskeletal and systemic manifestations, often leading to misdiagnoses and substantial delays in diagnosis. Data from 323 children with confirmed HPP diagnosis (aged <18 years, ALP activity below the reference range and/or ALPL mut...

Background: The human growth pattern varies from intrauterine to extrauterine life, with the GH-IGF axis being immature at birth and IGF-I assuming an important role in promoting postnatal growth. The actions of IGF-I are modulated by its interactions with IGFBPs, with this interaction being regulated by pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2), and thus modifying the amount of free IGF-I.Objective:</strong...

Introduction: Autoimmune thyroid diseases (ATD) are the most common autoimmune disorders associated with type 1 diabetes (T1D). Most patients present hypothyroidism. Although hyperthyroidism is less frequent, severe forms of thyrotoxicosis coexisting with diabetic ketoacidosis (DK) have been described in children with either preexisting diabetes, thyroid disease, or both. Celiac disease (CD) incidence is higher and ranges from 0.6-16.4%....

Background: The imbalance between oxidant-antioxidant status plays an essential role in the pathogenesis of many autoimmune diseases, including autoimmune thyroid disease (AITD). Studies have described that children with AITD have reduced superoxide dismutase (SOD), glutathione peroxidase (GPx), and significantly low zinc levels. This study assessed the effect of daily zinc supplementation for 12 weeks on thyroid auto-antibodies - thyroid peroxidase antibody (...

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...