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: Insulin deficiency inhibits protein synthesis and stimulates protein degradation, and then amino acids metabolism could be altered in diabetes mellitus.Objective: The aim of this study is to analyze amino acid plasma profile in a group of children with type 1 diabetes, and to evaluate its potential application as markers of metabolic control of the disease.Subjects/Methods: A clinical assessment and metabolic study (ami...

Adrenocortical tumours are a rare disease in the paediatric population, with a higher prevalence in children under 5 years. The aetiology is partially known; in some cases it is related to mutations in the tumour suppressor gene p53 (TP 53). The classical symptoms of the Cushing syndrome are not usually present in children, so we should suspect this disease in children and teenagers with obesity or with slow growth velocity.Methods: We report a case of a...

Background: The incidence of childhood T1DM is rising worldwide. The incidence varies based upon geography, age, gender, genetic susceptibility, ethnicity, environmental risk factors or differences in features and quality registers, ranging from 0.1 to 65 per 100 000 children younger than the age of 15 years. In Spain, the incidence is high (20.6) but fluctuates among Autonomous Communities.Objective and hypotheses: Study the epidemiological data in pati...

Background: Turner syndrome (TS) involves a partial or complete loss of an X chromosome. TS patients have an increased susceptibility to various disorders.Objective and hypotheses: To describe the clinical presentation, genotype and follow-up of TS patients controlled in the Pediatric endocrinology department of our hospital.Method: Retrospective study of patients diagnosed with TS at the ‘Navarra Hospital’ between 1980&#...

The incidence of TIDM varies greatly between different countries and regions. In Navarre, located in the north of Spain, at the western end of the Pyrenees, there has been a clear increase in the incidence of TIDM, from 13,5 cases per 100000 in the decade 1990-2000 to 20,1 cases per 100000 between 2006-2011. We wonder if this upward trend has continued in recent years. Our hospital is a reference center for Pediatric Endocrinology in Navarre.Obje...

Introduction: it has been widely demonstrated that high physical activity (PA) levels prevent obesity development. The practice of moderate, regular PA reduces abdominal obesity, hypertension, insulin resistance, dyslipidemia and improves risk factors for obesity-related comorbidities (e.g. diabetes or cardiovascular diseases) independently of weight loss. However, in the childhood population, where sedentary behavior has increased in recent decades, few studi...

Aim: to evaluate sleep quality by accelerometry and its association with anthropometry and biochemical parameters in children and adolescents after a multidisciplinary interventionSubjects Materials and Methods: One hundred and twenty-two children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a multidisciplinary intervention study to lose weight. Abdominal obesity was diagnosed using the waist circumference...

Objectives: -To determine children diagnosed with central congenital hypothyroidism (CCH) by a screening program using TSH and total T4 between May 2016 and January 2019.-To analyze the characteristics of the disease in these children.Material and Methods: During the time of the study, 14.743 newborns have been screened. Cut-off points are used for TSH ≥10MU/ml and T4 6 and 20 mg/dl as lower ...

Background: Ovarian function in young females with cancer can be damaged due to chemo-radiotherapy. One option to preserve fertility in these patients is the cryopreservation of ovarian tissue, but this is still experimental.Objective and hypotheses: Evaluate our experience with cryopreservation (indications, complications, and reimplantation). Through surveys, understand patient perspectives.Method: A total of 63 women were diagno...