ESPE Abstracts

Background: In the past decades Brazil has experienced a nutritional transition process characterised by a significant reduction in malnutrition and progressive increase in overweight and obesity. Nutritional education and precocious interventions are useful strategies to combat excess weight in childhood and adolescence. According to the World Health Organization (WHO), there were more than 40 million children overweight in the world in 2011. In Brazil, the prevalence of exce...

Background: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by non-autoimmune diabetes mellitus and progressive optic atrophy. WS includes other possible disorders, such as diabetes insipidus, sensorineural deafness, genitourinary tract problems, neurological or psychiatric disorders and others.Case presentation: A 12-years-old boy presented with glicosuria and shortly developed insulin-dependent diabetes mellitus...

Background: Functional insulin therapy allows precise insulin adjustments to achieve normoglycaemia.Objective and hypotheses: To assess metabolic control (A1c) and lipid profile in children and adolescents with DM1 in a 3-year period under multiple daily injections (MDI) since the diagnosis.Method: Retrospective analysis of children and adolescents under functional insulin therapy since the diagnosis of DM1. The variables studied w...

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...

Background: Type 1 diabetes mellitus (1DM) is a common chronic disease of childhood. Treatment targets the best metabolic control in order to prevent long-term complications.Objective: To evaluate metabolic control in children and adolescents with 1DM along the years. Methods: Retrospective study including 1DM children and adolescents with more than 2 years of disease. Data were collected at 2005 and at 2012: sex, age at diagnosis, therapy in the last ye...

Background: Children with myelomeningocele (MMC) run an increased risk of developing early or precocious puberty (E/PP). In previous studies of such children we found that the incidence of E/PP was 52% in girls and 21% in boys and that E/PP was strongly associated with increased intracranial pressure perinatally. It is also known that the occurrence of hydrocephalus without MMC is associated with risk of E/PP.Objective and hypotheses: The aim was to stud...

Background: Osteogenesis imperfecta (OI) is characterized by abnormal bone development with low bone mass and increased bone fragility. Dominant mutations affect synthesis & structure of type 1pro-collagen. Recessive mutations affect post-translational processing or tracking of type 1 pro-collagen. OI may be associated with dentinogenesis imperfecta type 1, for both primary and permanent dentition, particularly primary, manifested as tooth discoloration, reduced enamel thi...

Background: Childhood onset (CO) hypogonadotrophic hypogonadism (HH), congenital or acquired after midline tumours and their treatment, is reported to have significantly poorer outcomes, in terms of adult spermatogenesis induction and duration of treatment to conception, compared with HH of post pubertal onset. A mixed cohort (youngest aged 26 years) reported median time to conception of 28 months.1 Use of hCG and FSH in adolescence is reported to result in spermato...

Background: Intra uterine growth retardation (IUGR) is well recognized to result in infants born small for gestational age (SGA). Early morbidity is followed by increased lifetime risks for health problems, particularly in the 10% of IUGR infants who fail to catch up. Risks include metabolic syndrome with obesity, insulin resistance, abnormal glucose metabolism, hypertension, dyslipidaemia, T2DM. Rapid weight gain in infancy is associated with increased incidence of later obes...

A 12 year old boy sustained a severe head injury by a passing car whilst crossing the road. Injuries were confined to massive basal skull fracture, right sided blindness, acute onset diabetes insipidus, extradural and subdural bleeding requiring surgical decompression. Pre-operative physical examination revealed a healthy looking boy, height 60th centile for age, Tanner stage III puberty, 10 ml testes bilaterally. MR head demonstrated apparent pituitary stalk transection and r...