ESPE Abstracts

Introduction: Monogenic diabetes (MD) accounts for at least 3% of all pediatric diabetes cases. MD is often misdiagnosed as type 1 or type 2 diabetes, because of its wide phenotypic spectrum. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a broad study to diagnose MD cases. Then, with the gained knowledge, we designed a new diagnostic to...

Background: The EU-IGFD registry was established to monitor the safety and effectiveness of recombinant human IGF-I (rhIGF-I) (mecasermin (rDNA origin) injection; Increlex®) for short stature in children with SPIGFD, including those with Laron syndrome (LS).Objective: To report patient characteristics, effectiveness and safety data in clinically relevant patient subgroups.Methods: Data were compiled from this ongoin...

Background: The EU-IGFD registry comprises data for children with severe primary IGF-I deficiency (SPIGFD) receiving rhIGF-I (mecasermin [rDNA origin] injection; Increlex®) for growth failure.Objective: To report patient characteristics, effectiveness and safety data for children receiving rhIGF-I for SPIGFD and achieving AH.Methods: Patients from this ongoing observational study (NCT00903110) were included in analy...

Background: A thirty-four months old boy was referred for precocious puberty. He was the first child of healthy non-consanguineous parents. His family history was unremarkable. He had no exposure to oestrogenic endocrine-disrupting chemicals. He had presented secondary sexual characteristics for five months: pubic hair, enlarged testicular volume to 6 ml (Tanner stage P2A1G2) and enlarged penile size. He had a deepening voice and aggressive behavior. He had a significant growt...

Background: The post-authorization registry, EU-IGFD, was initiated in Dec-2008 to collect data in children with growth failure receiving Increlex® (Mecasermin [rDNA Origin] Injection).Objective and hypotheses: To report patient characteristics, safety and effectiveness data in poor-responders (i.e. with change in year 1 Height SDS <0.3).Method: European, multicentre, open-label, observational study; eCRF data collection.<...

Background: Diabetes ketoacidosis (DKA) is the most severe complication in type 1 diabetes (T1D) but patient education and ketone monitoring may help decrease its frequency. However, the influence on glucose homeostasis of systematic ketone monitoring and of the nature of monitoring (urine vs blood) is unclear.Objective and hypotheses: To determine whether the use of blood ketone monitoring, as compared to urine ketone testing, decreases the duration of ...

Background: Type 1 insulin-like growth factor receptor (IGF-1R) is the product of a single-copy gene located on chromosome 15 and is ubiquitously expressed in humans. Increased hepatic IGF-1R gene expression is found in hepatocellular carcinoma and in chronic hepatitis C, making parenchymal and non-parenchymal cells more susceptible to the mitogenic effects of IGF-1.Objective and hypotheses: As we have previously demonstrated that IGF-1 and IGF-2 circula...

Background: Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. This condition results from a constant and complex interplay between predisposing genes and environmental factors. To date, the molecular analysis are all focused on reproductive-endocrine disorders such as Kallmann syndrome and hypogonadotropic hypogonadism, while the genetic bases of pubertal timing are still unclear.<p ...

Background: Non alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in childhood, in obese subjects and associated with insulin resistance.FOXO1 is a key regulator in insulin signalling and in intracellular adipogenesis, and is implicated in liver steatosis. We have previously identified that a group of miRNAs are involved in its epigenetic regulation.Objective and hypotheses: We aimed to assess in liver tissue and in serum whe...

Background: Fetuin A is a hepatokine known as a natural inhibitor of the insulin receptor tyrosine kinase and is associated with insulin resistance and nonalcoholic fatty liver disease (NAFLD). Studies on adults provided conflicting results regarding the link between fetuin A and the severity of liver damage in NAFLD. Data on children are limited.Objective: To investigate the relationship between fetuin A, metabolic parameters, and NAFLD in obese childre...