ESPE Abstracts

Background: Most congenital adrenal hyperplasia (CAH) patients carry mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations varying according to ethnicity. A good genotype-phenotype correlation is observed, allowing the use of molecular analysis in clinical practice.Objective and hypotheses: To review the molecular diagnosis in a large cohort of CAH patients in order to create a diagnostic panel in our po...

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...

Background: Monitoring of thyroid function in neonates born from mothers affected by autoinmune thyroid disease is not perfectly established. The influence of etiology of maternal disease, maternal thyroid peroxidase antibodies (TPOAb) and l-thyroxine therapy during pregnancy on neonatal thyroid function were also investigated.Method: 194 term neonates were tested for thyroid function by measurement of free thyroxine (FT4</s...

Background: AuxoLog is a validated computer program that evaluates auxologic parameters comparing them with the Spanish growth charts. It also allocates subjects to the corresponding pubertal development group.Objective: To assess the evolution of auxological parameters in GH deficient (GHD) pre pubertal children treated with Omnitrope for a minimum of 2 years prior to puberty.Method: This study is non-interventional, retrospective...

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: Heterozygous GHR gene variants were found in 5–8% of idiopathic short stature (ISS) children. Frequent polymorphisms within GHR coding regions, but not intronic SNPs, have been investigated in ISS.Objectives: To characterize GHR gene variants in ISS children, and to test their influence on height and the peripheral GH/IGF1/IGFBPs system.Methods: GHR gene (coding/intronic flanking...

Background: The GH/IGF1 axis has important roles in growth, metabolism, lipid profile and body composition. GH receptor disrupted mice (GHRKO mice) are resistant to the action of GH, thereby, GHRKO mice are dwarf, hypoinsulinemic, hypoglycemic and obese. Consumption of a high fat diet (HFD) induces inflammatory processes in a multitude of peripheral tissues, including hypothalamus.Objective and hypotheses: Our aim was to evaluate the effect of HFD intake...

Background: Children born small-for-gestational-age (SGA) have a birth weight below 2,500 g at a gestational age over 37 weeks or a birth weight or length below the 3-rd percentile for gestational age. They usually recover growth during the first 6–12 months of life, but if not so, it is unlikely the recovery to happen after the age of two unless GH replacement therapy is initiated.Objective: The aim of this study was to evaluate the 1-st year growt...

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...

Background: Some IGFALS variants have been reported in more than one ALS-deficient family raising the question whether they originated from a single common ancestor allele (founder effect) or alternatively, as independent mutational events (hot spot). Since c.103dupG (p.E35Gfs*17) is located in a stretch of five consecutive guanine residues, where both G-duplication and deletion have been described in several families, we speculate that this region could be a hot spot...