ESPE Abstracts

Background: Studies aimed at elucidating the pathophysiology of obesity consistently describe it as a highly heterogeneous disorder at both clinical and molecular level. Despite rare monogenic forms and several regions of susceptibility have been defined, the genetic causes underlying the disease remain largely unknown.Objective and hypotheses: We aimed to identify novel genetic abnormalities in a cohort of Spanish children with severe non-syndromic earl...

Background: Quality of life (QOL) includes physical, psychological and social aspects. Transgender (TG) children undergo problems in school and with family, friends, and social relationships. These adverse effects on physical and psychosocial health can impair their quality of life.Objective and Methods: This study aims to assess health-related quality of life (HRQOL), using the KIDSCREEN-52 questionnaire (Spanish versio...

Background: Subcutaneous calcification is a rare clinical symptom in infancy. Progressive evolution and association with brachydactyly could be indicators of Albright hereditary osteodystrophy (AHO). In clinical practice, AHO is difficult to diagnose because of clinical heterogeneity. Typical features of AHO without any evidence of hormone resistance are termed pseudopseudohypoparathyroidism (PPHP; OMIM 612463).Case report: Male patient referred to study...

Background: Severe obesity among adolescents is increasing worldwide. Bariatric surgery is a controversial subject in this group of age, surgical timing is even more controversial. Patterns of surgical weight loss could be different between patients with greater excess weight, perhaps with less promising results.Objective and hypotheses: To compare anthropometric outcomes among adolescents with BMI 35–40 and over 40, underwent laparoscopic sleeve ga...

Background: Pelvic ultrasonography (PUS) of the uterus and ovaries allows the diagnosis of changes in sexual development. However, the reference values used in Spain originate from old studies conducted in other countries.Objective: To determine reference uterine and ovarian measurements by PUS and according to pubertal status and bone age in a Spanish population of healthy girls aged between 6 and 12 years.<p class=...

Introduction: Endocrino disruptors (EDs) are substances that interfere with hormonal function. The long list of EDs includes multiple natural compounds and numerous synthetic chemicals such as bisphenol A (BPA). BPA is present in plastics used in common products (Packaging, bottles, toys, digital media, etc). Several studies have shown its ability to alter the regulation of developmentally relevant genes, inhibit the synthesis of sex hormones and induce the pr...

Background: Prader Willi Syndrome (PWS) patients under treatment with growth hormone (GH) have a better body composition and cognitive performance than untreated patients. The 2013 guideline recommended to start this treatment as soon as possible, for that reason 14 toddlers have been included in our center. Classically a 25% decrease in the caloric intake of PWS patients has been recommended to avoid obesity. However, from clinical practice observation, w...

Background: Psychosocial factors and health events are important for patients with chronic diseases such type 1 diabetes (TD1).Objective and hypotheses: The aim was to explore the psychosocial factors, health events and comorbidity found at diagnosis and during the follow up of children and adolescents with type 1 diabetes. Also to analyze the association between socioeconomic status and glycaemic control.Method: Medical charts of ...

Introduction: Growth hormone (GH) treatment was approved in 2000 for patients with Prader-Willi syndrome (PWS). The main reason for its use was the improvement in body composition. As a result of 2 fatal episodes, it was decided to initiate it from 2 years of age arbitrarily. Average age of real start: 4-6years. GH per se is not a risk factor for mortality in PWS. The 2013 guideline recommends to star it as soon as possible, preferably under 2 years of age, when obesity is est...

Introduction: 49,XXXXY polysomy incidence is about 1 per 85000 to 100000 male births. As a rare condition with medical problems affecting different systems it should be evaluated under a multidisciplinary approach. We have reviewed the clinical characteristics of patients with this anomaly from all the country who contacted the program for evaluation.Methods: In 2016 we started a multidisciplinary program for the care of patients with sex chromosomal ane...