ESPE Abstracts

Background: Diabetics have an increased risk of cardiovascular disease. In young adults with type 1 diabetes mellitus (T1DM), cardiovascular events are more often the cause of premature death than nephropathy. In pediatric T1DM population, 35% have 2 or more cardiovascular risk factors (cvRF).Objective and hypotheses: This study aimed to determine the prevalence of traditional cvRF in children and adolescents with T1DM, and their association with the deg...

Background: Type 1 diabetes is one of the most common chronic disease in pediatric age. The incidence is increasing worldwide, with significant variations between countries. In Portugal, the prevalence in pediatric age is about 0.16%.Objective and hypotheses: This study aims to characterize a pediatric population with type 1 diabetes and to identify factors influencing the metabolic control.Method: Retrospective analysis of childre...

Background: Obesity is accompanied with the development of serious complications, including behavioural disorders. Obesity with impaired neuroendocrine status confirmed, but papers describing these interactions are a bit.Objective and hypotheses: To compare the state of neuroendocrine status in children with various forms of obesity and normal weight control to the evaluation of central hormonal regulators of energy balance.Method:...

Background: In recent years a special interest of researchers is focused on questions related to the early stages of the formation of food behavior (FB), considering their close connection with socially significant problems of the present - obesity, metabolic syndrome, cardiovascular pathology, etc.Aims: To assess the characteristics of the children’ nutritional behavior, taking into account the level of physical development at birt...

Objective: The original consensus-based Rotterdam criteria, now evidence-based criteria, is recommended for the diagnosis of PCOS in adult women. These criteria state that PCOS can be diagnosed when two of three major criteria (anovulatory cycles, clinical/biochemical hyperandrogenism, and polycystic ovary morphology or elevated AMH levels) are present and other potential etiologies have been excluded. Use of these criteria in adolescent girls is problematic b...

Introduction: Childhood obesity shows increasing numbers worldwide and presents as a global health issue due to multiple metabolic comorbidities. About 1 % of adolescents with obesity develop type 2 diabetes (T2D), however little is known about the genetic and pathophysiological background in young age. Genome-wide association studies in adults revealed genes with increased diabetes risk, most of them regulating insulin secretion. The objective of this study w...

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s persp...

Introduction: The 46,XX testicular disorder of sex development (DSD) is a rare genetic condition and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients, but approximately 20% of patients are SRY-negative. We report a 1.3 -year old SRY/negative 46,XX boy with complete sex reversal caused by SOX3 duplication.Case report:...

Background: Childhood cancer survivors (CSS) are at risk for several late effects, among them increased risk of metabolic syndrome (MetS). We wanted to study if female hypogonadism was a risk factor for MetS.Method: This study included 167 female CCS, mean age 34.3 (19.3-57.8) years in the South region of Sweden and 164 matched controls, mean age 35.0 (19.3–58.0). The female CCS were diagnosed at mean age 8.9 (0.1-1...

The main role of the acid-labile subunit (ALS) is to stabilize the IGFBP3/IGF complexes. Pathogenic variants in the gene coding for ALS (IGFALS) results in IGF1 and IGFBP3 deficiency, short stature, delay puberty and insulin resistance. The aim of these study was to identify the genetic cause in a patient with suspected ALS deficiency. The proband is the third son of non-consanguineous parents, evaluated for the first time at 17.3 years due to short stature (−2....