ESPE Abstracts

Background: The Xp21 contiguous gen deletion syndrome is a rare disorder which is characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and Duchenne muscular dystrophy. It is caused by partial deletion of Xp 21. On Xp21 several genes are located contiguously, such as NR0B1/DAX1, dystrofin gen and gene for glycerol kinase, and the clinical features depend on the size of the deletion. The major clinical manif...

Objective: Observe in children born SGA the relationship that the different variables have in the evolution towards metabolic syndrome, adrenarche and/or early/advanced pubarche or short stature and treatment with GH.Material and Methods:A retrospective observational study analyzing in SGA children at birth (n=103) and who are currently between 7-9 years of age, variables such as: sex; “Catch UP&r...

To date, knowledge of population dynamics and its repercussions on health required complex, long and expensive field studies. Big data tools are nowadays postulated as a tool of first magnitude for weighted population changes observed in real time if reliable sources of collection and adequate mathematical and computer tools for their assessment are available.Main Objective: Carry out a methodological approach to the use of big data appl...

To date, knowledge of population dynamics and its repercussions on health required complex, long and expensive field studies. Big data tools are nowadays postulated as a tool of first magnitude for weighted population changes observed in real time if reliable sources of collection and adequate mathematical and computer tools for their assessment are available.Main Objective: To evaluate, using big data tools, whether there have been sign...

Background: Recombinant human growth hormone (r-hGH) therapy is an effective treatment strategy for children experiencing growth disorders. However, poor adherence to long-term r-hGH therapy can lead to suboptimal catch-up growth. Digital health solutions, such as easypod® connect ecosystem, can facilitate adherence to r-hGH therapy in these patients.Aim: To investigate the adherence to r-hGH therapy administered via...

Type 1 diabetes mellitus is a chronic disease of autoimmune etiology that is highly prevalent in childhood. In the last decade, the possibility of using the Bacillus Calmette-Guérin vaccine for the treatment of this disease has been studied thanks to its immunomodulatory action. These authors published a few years ago an inconclusive work on the influence of the use of BCG on the number of cases observed in the CCAA in a smaller cohort (Bol S Vasco- Nav Pediatrician 202...

These authors published (Bol. S Vasco- Nav Pediatr 2016; 48: 12-16) the situation of this cohort is well characterized in relation to weight, regular school exercise and/or going to the school cafeteria. It was shown that, although the population was of a medium-high socioeconomic level, the overweight situation was lower among children with regular school exercise, with no evident influence between those exposed or not to the school cafeteria.Go...

Introduction: Puberty generates hormonal changes which induce physical changes like the development of secondary sexual characteristics, which cause discomfort in the transgender person. GnRHa stops puberty, which reduces the changes in the body and allows the teenager to have time to consider their gender identity. However, an expected side effect of these drugs is the reduction of growth velocity.Objective: Determine t...

Background: Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the deletion, the monosomy 9p syndrome. The phenotype shows variable expressivity and is related to the size of the deletion. XY sex reversal is a relatively rare type of DSD (disorder of sexual development). Terminal region of short arm chromosome 9p (9p24.3 region) contains 3 types of DMRT genes (DMRT1-3). DMRT1 gen acts in syner...

Background: Variable rate intravenous insulin infusion (VRIII) is commonly used in unwell patients with diabetes and complex nutritional needs. However, frequent blood glucose monitoring with infusion rate adjustment gives rise to significant safety concerns and is extremely resource intensive. Fully closed-loop (FCL) systems are promising technological advancements in diabetes management. It comprises of continuous glucose monitoring and a control algorithm t...