ESPE Abstracts

The deficit of lysosomal acid lipase (LAL) is an infrequent (1: 40,000–300,000 prevalence), autosomal recessive, monogenic pathology. It can aggressively (Wolman’s disease): malabsorption and severe dyslipidemia with survival less than one year of life. The cholesterol ester storage disease (CESD) presents with dyslipidemia, liver disease and early cardiovascular disease.Goals: Descriptive study of the prevalence of LAL deficiency and carriers ...

Today we have an increase in patients with early-ahead forecast pubarche with impaired bone carving for advancement but organicidad criteria (HSC) but if dysfunction or adrenal hyperandrogenism and/or ovarian There are several anti-androgen drugs, all without usual pediatric use (use ‘of label’). Low-dose flutamide 62.5 mgr/day has been postulated as a treatment in these cases, but its use is restricted due to the risk of side effects (gynecomastia and liver involvem...

It is known that more checks of blood glucose, metabolic control of patients with type 1 suffering Dm improvement. Improved technology has made it possible to develop devices interstitial glucose control both blinded (retrospective) and open (in real time). The FREE STYLE free device is the latest appearance on the Spanish/European market. Although initially not seem indicated in <18 th, these are the a priori more could benefit from an improvement of metabolic control.</p...

Introduction: Septo-optic dysplasia (SOD) is an uncommon, highly heterogeneous entity of multifactorial etiology, consisting in the association of 2 or more of the following characteristics: ophthalmological abnormalities [most frequently optic nerve hypoplasia (ONH)], midline brain abnormalities [such as aplasia/hypoplasia of the septum pellucidum (SP) and/or corpus callosum (CC)] and variable degree of hypotalamo-pituitary insufficiency (HPI)<p class="ab...

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...

Background: In recent years, vitamin D is attracting increasing interest due to the resurgence of vitamin D deficiency and rickets in developed countries, identifying their extraesqueletics actions and greater understanding of its many benefits. Vitamin D deficiency in children prevalence of vitamin D deficiency in certain regions described up to 80%, especially at high latitudes (above 37) and some breeds.Objective and hypotheses: To study the degree of...