ESPE Abstracts

Introduction: Primary growth hormone (GH) insensitivity is an autosomal recessive pathology caused by molecular defects in the GH receptor gene. In Chile there are 3 reported patients.Clinical case: Female patient, newborn of 37 weeks, due to delivery, adequate for gestational age. Son of non-consanguineous parents. Hospitalized at 12 hours of life in the neonatology unit due to persistent tremors, jaundice and septic sy...

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: Paediatric hypertension is increasing and has been associated with obesity and insulin resistance. Recently, cortisol:cortisone ratio and the metalloproteinase 9 (MMP9), which is a marker of vascular remodelling, have been syndicated as new risk factors associated with hypertension.Objective and hypotheses: To analyse the association between paediatric hypertension with clinical, biochemical, inflammation, and vascular remodelling biomarkers<...

Background: Iodine concentrations in Chilean schoolchildren are the highest in South America. This may be related to excessive sodium intake, which is associated with hypertension. However, iodine decreases blood pressure (BP), which would be a cardiovascular protective factor.Objective and hypotheses: The objective of this study is to evaluate the effects of iodine on BP and cardiovascular risk factors, despite salt intake.Method:...

Background: Patients with Prader-Willi-Syndrome (PWS) seem to be a risk-group for COVID-19 infection, due to their syndrome associated clinical features of hyperphagia and obesity, risk for central hypoventilation and obstructive sleep apnoea. Yet, little is known about the severity of infections and the long-term consequences in these patients. Therefore, we studied auxologic parameters and sleep laboratory examinations in PWS patients before and after COVID-...

Background and Aims: MicroRNAs play important regulatory roles in cholesterol homeostasis and endothelial dysfunction. The aim of present study was to characterize the expression of miRNAs in overweight/obese adolescents and to identify the possible correlation with metabolic profile and inflammatory biomarkers.Methods: 79 overweight and obese adolescents aged 13.0±2.0 years and 28 normal weight adolescents aged 13....

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...

Background and hypothesis: Mitochondrial disorders are multisystemic conditions associated with sensorineural hearing loss, encephalomyopathy, lactic acidosis, and non-autoimmune diabetes. The majority of molecular etiologies involve mutations in the genes encoding the oxidative phosphorylation system's components. Superoxide generation is significantly increased and causes oxidative damage in the affected tissues in these disorders. The establishment of ...

Hypophosphatasia (HPP) is a rare, inherited, systemic disease characterized by deficient tissue-nonspecific alkaline phosphatase activity. Common manifestations in children include impaired skeletal mineralization, short stature, and reduced physical function. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients of any age with pediatric-onset HPP. The utility of dual X-ray absorptiometry (DXA) as a diagnostic tool or measure of treatment effective...

Introduction: Cystic fibrosis related diabetes (CFRD) is associated with a poorer nutritional status, respiratory function and an increase in mortality rate. Screening is recommended from age 10; however, prediabetic conditions are diagnosed earlier.Objectives: 1) To characterize the degree of carbohydrate metabolism impairment (CMI) in 50 CF patients. 2) To explore the association with clinical parameters as eventual predictors of these conditions.<...