ESPE Abstracts

Background: Loss-of-function of immunoglobulin superfamily member 1 (IGSF1) results in an X-linked syndrome of central hypothyroidism and macroorchidism, variable prolactin deficiency, GH deficiency, increased fat percentage, and delayed puberty testosterone rise despite normal timing of testicular growth.Methods: We investigated the spatial and temporal expression of IGSF1 at the protein and mRNA levels in fetal, neonatal, and adult Wistar rats, using i...

Introduction: Children with cerebral palsy (CP) has an increased risk of bone fragility, low areal bone mineral density (aBMD) and low trauma fractures leading to increased pain experience, decreased mobility and lower quality of life.Purpose: The aim of this study was to determine the prevalence of low BMD among children with cerebral palsy in Denmark across the spectrum of gross motor function scale (GMFCS) of I-V and ...

Objective: Hysterosalpingography (HSG) to assess patency of the Fallopian tubes with the use of iodinated (oil- or water-based) contrast media is a standard test during fertility work-up. An observational study found an increased risk of congenital hypothyroidism in neonates whose mothers were exposed to high amounts of oil-based contrast during HSG. Oil-based contrast contains more iodine (480mg Iodine/ml) than water-based contrast (250mg Iodine/ml). We inves...

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...