ESPE Abstracts

Background: HABP2 is an extra-cellular matrix protein involved in cell proliferation. Recently, HABP2 was proposed as responsible for the familial clustering of Differentiated Thyroid Carcinoma (FDTC). However, its involvement was questioned by subsequent studies revealing high prevalence HAPB2 polymorphisms (SNPs) in the general population, leaving its pathogenic role uncertain.Objective and hypotheses: To identify genetic HABP2</e...

Background: Genetic defects in NKX2.1 (chromosome 14q13) are associated with hypothyroidism, choreo-athetotic movements and respiratory distress, known as the “Brain-Lung-Thyroid syndrome”.Objective and hypotheses: To identify the genetic basis of a disorder compatible with the “NKX2.1 syndrome” and extra features outside the typical triad.Patients and methods: 10-year old girl with congenital ...

Background: Liver steatosis (LS) is diagnosed in obesity at very early ages, not exclusively related to overweight severity.Objective and hypotheses: To investigate the features of patients diagnosed with obesity associated LS (ultrasonography).Method: We retrospectively studied 88 obese (BMI>+2 SDS) children with LS (LS-OB) and 88 age, gender, race and puberty matched obese children without LS (no-LS-OB). BMI-SDS, body composi...

Introduction: Growth without growth hormone (GWGH) is a rare phenomenon described in patients with hypothalamic structural pathology who present a normal growth rate in spite of growth hormone (GH) deficiency and low concentrations of insulin-like growth factor-1 (IGF-1). Possible aetiologies involve hyperinsulinaemia, hyperprolactinaemia or hyperleptinaemia; however, the exact mechanism is still unknown.Objective: We ai...

Introduction: Continuous Glucose Monitoring (CGM) devices have introduced new metrics to assess metabolic situation of patients with type 1 diabetes mellitus (T1DM). Among them, the glucose management indicator (GMI) provides a proxy to HbA1c, however, these measures do not always match.Purposes: To evaluate the concordance between GMI and HbA1c, and determinate in which scenarios GMI could replace HbA1c.Subjects a...

Background: Liver steatosis (LS) results from ectopic fat deposition and can be present in obesity even at early ages. Similar to insulin resistance, the onset of LS does not seem to depend exclusively upon the severity of obesity and shows a large interindividual variability.Objective: Our objective was to develop a predictive normogram for LS in children and adolescents with obesity ba...

Introduction: The influence of sex chromosomes and sex hormones on early human brain development is still poorly understood. Expression of Y chromosome genes may influence aspects of brain maturation in the 46,XY fetus, but the contribution of different Y genes is unknown. Furthermore, a marked increase in testicular testosterone biosynthesis/release from the testis occurs at around 8 weeks post conception (wpc) in the 46,XY fetus, but it is unclear whether te...

Introduction: Noonan syndrome (NS) is one of a group of diseases known as rasopathies, which share a common molecular substrate: alterations in the RAS-MAPK signaling pathway. NS is characterized by clinical and genetic heterogeneity. Up to 50% of cases are caused by variants in the PTPN11 gene, although more than 10 genes have been identified as involved in the pathogenesis of this disease with marked clinical overlap.Objectives...

Introduction: Diabetes insipidus (DI) is a rare disease in children. In most cases it is acquired and central in origin (CDI). The most frequent cause of acquired CDI is brain tumor and idiopathic forms represent between 20-50% of cases, depending on the series. Autoimmune hypophysitis is a rare cause of DI and is a presumptive diagnosis with a suggestive brain MRI and ACTH and TSH deficiencies as the most common hormonal involvement, although it can manifest ...

Introduction: Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the presence of pancreatic-autoantibodies, which are diagnostic biomarkers. The detection of autoantibodies in first-degree relatives of patients with T1D is considered a risk factor for developing the disease; however, there is little information on how long it takes from the detection of autoimmunity to the clinical onset of T1D.Objectives:</st...