ESPE Abstracts

Background: SRS is a typical epigenetic disease. Approximately 40% of patients can not be detected genetic and epigenetic disturbances.Objective and hypotheses: To analysis whether there is unknown genes or imprinted genes associated with pathogenicity of SRS and to detect the fine mapping SRS hypomethylation position through the Illumina Methylation 450K chip to detect genome-wide methylation differences.Method: To detect genome-w...

Background: We investigate the efficacy and safety of two different treatments which have not been evaluated in peri-puberty boys with HH.Objective and hypotheses: To assess the effectiveness and safety of pulsatile GnRH or hCG treatment in adolescent boys with hypogonadotropic hypogonadodism.Method: 12 patients received 8–10 μg of GnRH, subcutaneously injected every 90 min using a pump. Another 22 patients received hCG, ...

Background: Nearly half of SRS epigenetic etiology is unknown. Effect of GH in SRS is not exact.Objective: To determine novel gene or imprinted gene associated with pathogenicity of Silver–Russell syndrome (SRS) through detection genome-wide methylation differences. To observe GH efficacy in SRS and the relationship between GH and epigenetic changes.Method: To detect genome-wide methylation site through the Illumina 450K methy...

Background: Heterozygous familial hypercholesterolemia (HeFH) is characterized by severely elevated low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease. European guidelines currently support the initiation of statin therapy by age 8-10 years in patients with HeFH to slow the progression of endothelial disfunction and to reduce the risk of cardiovascular disease in adulthood. However, to date, there is lack of data on adheren...

Background: Autoimmune’s thyroiditis (AT) is the most common cause of thyroid diseases in children and adolescents with a peak in early to mid-puberty (prevalence of 0.3–1.2%). Previous studies showed a high rates of familiarity for autoimmune disease (AD) and co-existing autoimmunity in AT subjects.Objective and hypotheses: Aim of our study is to investigate familiarity for AD and co-existing autoimmunity in a large cohort of pediatric AT pati...

The majority of patients with Variations of Sex Development (VSD) lack a genetic diagnosis. Patients that are born with atypical chromosomal, gonadal, or phenotypical sex, present a wide spectrum of phenotypes that are often associated with ambiguous genitalia, infertility as well as increased susceptibility to testicular or ovarian cancer. Many different genetic causes of VSD have been reported [2], but for more than 50% [3] of all VSD patients, the molecular cause of their c...

Objectives: To demographic, socio-economic and social changes in the population of children who debuted in this century with DM type 1aPatients and Methods: Study patients with Type 1 Diabetes Mellitus from January 2000 to the present. Longitudinal study of global epidemiological, social, demographic and clinical variables and by five-year periods, focusing on the latte at Basque CountryRes...

It is known that a larger number of blood glucose control, glycemic control of patients with type 1 Dm suffers improvement. Likewise, the presence of hypoglycaemias maintained, especially at night and in school-age patients, could have a significant influence on neurological aspects such as night rest, learning and memory. Improved technology has id allowed or development of control devices interstitial glucose, both blinded (retrospective) as erta abi (real time). The free FR...

The pathological low stature is considered to be one that does not conform to normality (<2 SDS), that with a pathological growth rate. An obvious element is the conditioning that can generate in their professional outings, both in public and private activity. This seems to be evident in the female sex than in the male sex. The health system considers the treatment (with Ghrh) in pathological size without considering sexual dimorphism.Goals: To study...

Background: The diagnosis of increasingly serious in the early years of life obesity has experienced a large epidemiological increased worldwide in recent decades, and especially in our country and in some groups. Many of the metabolic complications (SM) and cardiovascular have their origins in childhood and are closely related to the presence of insulin resistance (IR), which associated complications: hepatic steatosis, endothelial dysfunction, polycystic ovary syndrome (PCOS...