ESPE Abstracts

Background: IGF1 is essential for pre and postnatal growth. Mutations in IGF1 receptor (IGF1R) gene have been described in patients with intrauterine growth retardation and other anomalies.Objective and hypotheses: To study IGF1R gene in small for gestational age (SGA) patients with short stature and correlate the results with clinical presentation and response to rhGH treatment.Method: Longitudinal retrospective study of 69 SGA pa...

Introduction: GH deficiency (GHD) in adults is associated with impaired cardiac function, contributing to increased mortality due to cardiovascular disease. Research has shown that adults with GHD have high levels of brain natriuretic peptide as a measure of cardiac function. GH replacement therapy can improve cardiac function and lower BNP levels. The scarce research carried out in children appears to show that GHD is linked to decreased left-ventricle size and reduced left-v...

Background: Mexico is globally ranked as one of the countries with the highest incidence of congenital hypothyroidism. There are few studies that have searched for germinal mutations of candidate genes, such as NKX2-1, in patients with congenital hypothyroidism.Objective and hypotheses: i) To search for NKX2-1 mutations in blood samples of patients with confirmatory diagnosis of congenital hypothyroidism (CH) due to thyroid dysgenesis (...

Introduction: PseudoCushing is an unusual pathology. Among adults several cases have been published, however, in paediatrics it is unusual.Objective: Description of a PseudoCushing case from a patient admitted in a hospital and results from a study to discard secondary hypercortisolism due to stress.Patients and methods: 13 years old patient that it is admitted in hospital due to v...

Anorexia nervosa (AN) is a multifaceted and debilitating illness characterized by self-induced starvation, persistent anxiety about weight gain, preoccupation with body image, and maladaptive food choices. It is characterized by the disruption in homeostatic energy balance mechanisms and the persistence of homeostatic hunger is overridden by dysfunctional self-regulatory and reward pathways that drive food aversion and severely restrict food intake. Epidemiological studies hav...

Relevance: Evaluation of bone metabolism is a new scientific direction in the study of the long-term effects of childhood obesity.Objective: To study markers of bone metabolism in children and adolescents with obesity.Materials and Methods: 74 children with overweight and obesity in accordance with the WHO criteria and 25 healthy children with an average age of 15.4[11.6;19.2] year...

Background: MEN1 is an autosomal dominant disorder that is due to mutations in the tumor suppressor gene MEN1, which encodes a 610-amino acid protein, menin. MEN1 is characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. The prognosis for MEN1 patients might be improved by presymptomatic tumor detection and undertaking treatment specific for MEN1 tumors.Objective and Hypotheses: Genetics is increasingly becoming ...

Background: Adequate vitamin D level is essential for optimal child’s growth. Small for Gestational Age (SGA) is a common cause of short stature in childhood. Being born SGA is associated with a risk of developing insulin resistance.Objective and hypotheses: The aim of the study was to evaluate serum vitamin D levels in short children born SGA and appropriate for gestational age (AGA) and to assess their relationship with insulin sensitivity.<p ...

The pathogenesis of altered bone metabolism leading to bone mass loss and fractures in patients with cystic fibrosis (CF) is complex, and can involve malnutrition, malabsorption, lack of physical activity, vitamin D and K insufficiency, systemic inflammation, respiratory failure, liver disease, hypogonadism, and treatment with glucocorticosteroids. Many studies reported osteopenia, osteoporosis and fractures in adults with CF, with bone loss starting at an earlier age than in ...

Background: Obesity is an increasing problem among children and adolescents in recent decades however official statistics are contradictory.Objective and hypotheses: The purpose of this epidemiological study was to determine the prevalence of obesity in children and adolescents in the Udmurt Republic – the region in European part of the Russian Federation with a child population of 300 thousand people.Method: According to the ...