ESPE Abstracts

Introduction: Identifying the nutritional diagnosis of adolescents is crucial for developing public health strategies that promote the adequate development of this population.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2021.Methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The preval...

Objectives: Osteogenesis imperfecta (OI) is an extremely heterogeneous connective tissue disorder characterized by low bone mass, which together with altered bone matrix properties leads to skeletal fragility. Due to the wide range of symptoms, the pathophysiology of the OI is not fully understood. Null mutations in SERPINF1, encoding the potent antiangiogenic factor PEDF, cause type VI OI with excessive osteoid formation, abnormal osteoblast-osteocyt...

Background: CHRYSTAL (Costs and Health Related qualitY of life Study for Type 1 diAbetes mellitus pediatric patients in Spain) is an observational study conducted in 2014 on a representative sample of 275 patients aged 1-17 years with Type 1 Diabetes Mellitus (T1DM) in Spain.Objective and hypotheses: One of the objectives of the study was to describe the adherence to diabetes care using the Self Care Inventory (SCI), and to compare results by HbA1c level...

Background: Costs and health related quality of life study for type 1 diabetes mellitus (CHRYSTAL) pediatric patients in Spain is an observational study conducted in 2014 on a representative sample of 275 patients aged 1–17 years with type 1 diabetes mellitus (T1DM) in Spain. The study collects diabetes specific health related quality of life (HRQoL) using the Diabetes Module of the Pediatric Quality of Life Inventory (PedsQL). This scale has been identified to be one of ...

Background: Achondroplasia is a skeletal dysplasia being the most common cause of rhizomelic dwarfism.Case presentation: We present a 10 years old boy who was first diagnosed prenatally. He had a mutation c1138G>A in the gene FGFR3 in a heterozygotic constellation. His IGF1 levels and IGFBP3 were normal. Two stimulation tests for GH were performed with normal levels of the hormone. His psychomotor development was adequate for his age except for speec...

Background: Congenital glucose–galactose malabsorbtion is a rare autosomal recessive disorder of intestinal transport of glucose and galactose. It is characterized by watery diarrhoea, dehydration, failure to thrive, or early death without appropriate dietary treatment.Case presentation: The patient was 15 days old when he was admitted to the hospital because of continued, severe, watery, acidic diarrhoea and hypernatremic dehydration. The abnormal ...

Management of patients presenting a chronic endocrine or metabolic disease during transition period is a challenge for multiple reasons. The department of Adult Endocrinology and Reproductive Medicine in Pitie Salpêtrière Hospital, Paris has been involved in the management of such patients for many years. However, in our own experience, 81% of patients are still followed-up after 1 year, 71% after 3 years and only 49% after 5 years. Based on such experience, we decid...

Case Report: Patient 1: a 3.6-yr-old girl presented with very severe hypertriglyceridemia (serum triglyceride level >1000mg/dL) in random sampling in the first year of life. She presented with recurring episodes of abdominal pain, and splenomegaly. There is no history of consanguineous marriage. Maternal and paternal family had history of coronary events at an early age. A genetic panel showed homozygous variant chr8:19.953.365 C>T (p.Ala162Val) in the l...

Background: Children born small for gestational age (SGA) are at increased risk of coronary heart disease and type 2 diabetes in adulthood, due to reprogramming of endocrine and metabolic functions. Dysregulation of specific miRNAs in response to genetic and environmental factors contribute to aberrant gene expression patterns underlying metabolic dysfunction.Objective and hypotheses: We aimed to identify miRNAs associated with increased risk of obesity ...

Objective: Recent experimental data suggest that circulating serotonin interacts with bone metabolism, although this is less clear in humans. This study investigated whether serum serotonin interferes with bone metabolism in young women with anorexia nervosa (AN), a clinical model of energy deprivation.Methods: Serum serotonin, markers of bone turnover (osteocalcin (OC), procollagen type 1 N-terminal propeptide (PINP), type 1-C telopeptide breakdown prod...