ESPE Abstracts

Background: Several studies have suggested that vitamin D supplementation in early childhood is successful in decreasing the risk of type 1 diabetes (T1D) through a complex immunomodulatory role. However, Intervening in disease once clinical symptoms have appeared and autoreactive immune responses are active might be more challenging. Controlled trials with vitamin D supplementation in recent-onset T1D have shown mixed results.Objective and hypotheses: T...

Background: The detection of hyperglycemia on occasional evaluation raises the diagnosis of diabetes mellitus (DM). Maturity onset diabetes of the young (MODY), namely glucokinase deficiency, should be considered in cases of non-progressive hyperglycemia associated with a positive family history.Objective and hypotheses: We describe two unrelated cases of asymptomatic hyperglycemia where glucokinase mutations were detected.Method: ...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol synthesis. 95% of CAH cases result from mutation in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin deficiency causes Enlers-Danlos syndrome (EDS). A variant called CAH-X, has recently been described, resulting from CYP21...

Background: Neonatal diabetes (ND) is a rare condition (1:160.000-260.000 live births) associated with diabetes onset within the first 6 months of life. It can be permanent (PNDM) or transient (TNDM), and several genes can be implicated in both, namely KCNJ11. Clinical phenotypes usually correlate to the causal gene. KCNJ11 mutations are usually associated with PNDM whilst the most frequent cause of TNDM is disordered imprinting in the 6q24 locus.Objecti...

Introduction: Treatment with recombinant growth hormone (rGH) is safe and has greatly improved the approach of children and adolescents with growth hormone deficiency (GHD) and other growth disorders. Some studies show that most of the height gain associated with GH treatment occurs in prepubertal years. The aim of our study was to evaluate the effect of age at start of the treatment on final height in children with isolated or GHD in a Portuguese cohort.<p class="abstext"...

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...

Background: Congenital hypothyroidism (CH) comprises a heterogeneous group of disorders that includes diseases of the hypothalamo-hypophyseal system. The latter are missed on TSH based screening programs leading to increased morbidity and mortality. Additional T4 determinations, allows an early detection of CH of central origin (CH-C).Objective and hypotheses: To report the findings of a neonatal screening program based on determination of TSH...

Context: Heterozygous mutations in TSH recepter (TSHR) have been described associated with mild TSH resistance characterized by non autoimmune hyperthyrotropinemia (NAH). The prevalence of this condition varies in different reports.Objective: To determine the prevalence of TSHR variants in pediatric NAH.Subjects and methods: Thirty-five non obese unrelated children with NAH (18 girls, aged 1–19 years) were enrolled. A...

Background: The childhood obesity is a common reason for consultation, due to the increase of this disease in our society, the instruction of the patient and the family consumed many resources.Objective: Study the obese children who attended during the year 2012 valuing the results at 4 and 8 months.Method: 37 obese children(SDS >2), valuing sex, age, family history (FH), anthropometrics measures at birth and the time of the st...

Introduction: Obesity is associated with comorbidities such as hypertension (HTN), and other alterations in blood pressure (BP) such as: masked hypertension and alterations in the circadian cycle variability, that only can be detect through ambulatory blood pressure monitoring (ABPM).A higher prevalence of masked hypertension has been reported in obese subjects, up to 4.3%. Also a loss in drop from mean daytime to mean night-time lev...