ESPE Abstracts

Background: The pathogenesis of type 1 diabetes (T1D) is multifactorial, caused by interaction of genetic, epigenetic and environmental factors that lead to the production of antibodies early on life and a gradual loss of insulin secretory capacity of the pancreas. The genetics and immunological characteristics of our T1D population have not been precisely identified.Objective and hypotheses: To compare biochemical, genetic and immunological features of ...

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: Thyroid nodules (TN) are rare in children but often show more aggressive features than in adults. Irradiated childhood cancer survivors (CCS) are at risk for malignant thyroid nodules.Objective and hypotheses: To retrospectively compare the incidence of differentiated thyroid cancer (DTC), the clinical onset and the medium-term follow-up in a pediatric population (EC <18 years), with and without risk factors examined for TN, among 1990 an...

Background: The isodicentric Y (idic Y) is one of the most common aberrations of the Y chromosome. Most patients (pts) are chromosomal mosaics, including 45,X cell line.Objective and hypotheses: Our aim is to describe clinical and molecular features of our 45,X/46,Xidic(Y) cases.Method: We retrospectively evaluate the clinical description of nine cases (six females, one male, two with ambiguous genitalia) with mosaic karyotype 45,X...

Background: Neonatal diabetes (ND) is a rare condition (1:160.000-260.000 live births) associated with diabetes onset within the first 6 months of life. It can be permanent (PNDM) or transient (TNDM), and several genes can be implicated in both, namely KCNJ11. Clinical phenotypes usually correlate to the causal gene. KCNJ11 mutations are usually associated with PNDM whilst the most frequent cause of TNDM is disordered imprinting in the 6q24 locus.Objecti...

Background: GH revolutionised treatment of children with GH deficiency, conditioning an improvement in height outcome but also an increase of lean body mass and reduction of fat mass.Objective and hypotheses: The authors aimed to evaluate the growth and weight response in children with GH deficiency and identify potential factors affecting the outcome of these patients.Method: The growth and weight data of 58 children (33 boys and ...

The pathogenetic role of genetic factors in congenital hypothyroidism (CH) is now widely known. The constant evolution of diagnostic methods in the field of medical genetics provides the opportunity to obtain an etiological diagnosis in CH patients with genetic defects in candidate genes. We performed genetic analysis by Next Generation Sequencing (NGS) of 18 candidate genes (DUOX2, DUOXA2, FOXE1, GLIS3, IGSF1, IYD, NKX2-1, NKX2-5, PAX8, SLC16A2, SLC26A4, SLC5A5, TG, THRA,...

Introduction: Type 1 diabetes mellitus (T1DM) is associated with significantly higher cardiovascular disease mortality compared to the general population, even when glycated hemoglobin (HbA1c) is less than 7.0%. Inadequate body composition may increase the risk.Aim and Methods: To evaluate body composition of a group of pediatric patients with T1DM, from Portuguese Pediatric Endocrinology/Diabetic Clinic, using the bioim...

Objectives: Among adverse effects of GH, a particular attention should be given to glucose homeostasis. The aim of the study was evaluate the effect of GH therapy on glucose homeostasis in children with GHD after 10 years of treatment.Methods: 30 patients (8 M/22 F, age 7.00 &pm; 2.61 years) with GHD at diagnosis and 30 healthy children comparable to patients for age, sex and BMI were enrolled. Glucose, insulin, HOMA-IR ...

We report and discuss a case of a girl who at birth underwent surgery for Hirschsprung Disease (HD). To closely investigate her condition, we used a Next Generation Sequencing (NGS) panel to carry out a study of some of the genes known as being associated with congenital megacolon (PHOX-2B, RET, EDN3, GDNF, ASCL1 and BDNF). This analysis showed a maternally inherited heterozygous variant in the RET protooncogene (c.734T>A, p.Val245Glu), which is not described in the scienti...