ESPE Abstracts

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...

Background: The steroidogenic enzyme aromatase is encoded by the CYP19A1 gene. Aromatase activity is required for estrogen biosynthesis from androgen precursors in the ovary and several extragonadal tissues. The role of aromatase and thus estrogens for human biology is best illustrated by disease states, both deficiency and excess which might be caused by genetic disorders.Aim: A novel deletion-insertion mutation spanning from intron 10 to the 3...

Background: 6 patients with neonatal diabetes presenting to a single centre from April 2014 to March 2015 were studied for clinical presentation, biochemical findings of the disorder, genetics and treatment outcomes.Objective and hypotheses: Six children presenting to a single centre in South India were studied for correlation of disease with clinical features and genetics, suitability of current treatment regimens and treatment outcomes.<p class="ab...

Background: Recent studies have shown a rising trend in pediatric obesity. However, studies dealing with the ultimate metabolic consequences of pediatric obesity and the means of accurately predicting these consequences are limited.Objective and hypotheses: To study the utility of WHtR as a marker of insulin resistance. To validate the presently used cutoffs (≧0.5) and validate its utility in populations studies.Method: 96 c...

Introduction: Obesity is a multifactorial disease resulting from an interplay between genetics and the environment. Metabolic, nutritional, psychosocial, and lifestyle factors participate, promoting various degrees of overweight or obesity. Pediatric obesity increases after infancy and is higher in early adulthood, showing a heritability of up to 85%. Genetic variants associated with BMI in children can exert their effects by affecting eating behavior, as is t...

Pituitary gigantism is a rare disorder caused by excess of GH/IGF-1 due to GH-secreting lesions, that occurs before epiphyseal closure leading to increased linear growth. These cases have more aggressive features of pituitary disease than sporadic acromegaly, including a younger age at disease onset and larger tumor size, and they can be challenging to treat. Over the past two decades several molecular defects that cause GH-secreting pituitary adenomas have been identified, in...

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. T2D is associated with metabolic-associated fatty liver disease (MAFLD). High-density lipoproteins (HDLs) are lipoproteins that are believed to have atheroprotective properties that reduce the risk of cardiovascular disease (CVD). Current evidence suggests that the physicochemical and functional features of HDLs may play a key role in the pathogenesis of atherosclerosis.<...

Introduction: The incorporation of the interstitial glucose monitoring system, in the offer of services in the Andalusian Public Health System (APHS), means an opportunity for the implementation of a model of integration, and follow-up of glucose data, and the evaluation of their impact in health results.Purpose (Aim): The design and implantation of a model that allows the identification, registration of clinical data, i...

Introduction: Childhood obesity means a Public Health problem. It is related to chronic diseases in adults, a decrease in quality of life, and an increase in social and sanitary costs. In Spain, the National Health Service (ENSE 2017) stood the prevalence of overweight in toddler between 2 to 7 years old, in 18,26% and obesity in 10,30%, no differences between sex. In 2015 the prevalence of overweight and obesity in childhood are 21, 3 % and 6, 2 &...