ESPE Abstracts

Background: In humans GRB10 negatively regulates GH and IGF1 signaling predominantly via altering phosphorylation of PI3K/mTOR/AKT and MEK/ERK pathways which relate to both growth and metabolic function. We have previously shown that Grb10 knockdown in Zebrafish results in overgrowth with an increase in length and head size. However the impact on weight in relation to length has not been assessed.Objective: To develop a model t...

There is an exponential rise on the topic of Gender dysphoria (GD) on the internet, pubmed data, seminars and conferences. However, most of these discussions skewed toward the western populations. GD appears invisible or non -existence in Africa? Recently, GD has been conceptualized as a continuum of a bipolar disorder with varying degrees of dysphoric expression in between the poles. Hence, dimensional measure of assessment which is in keeping with nature’s experiences...

Objective: Clustering of rare diseases and private founder mutations is a common phenomenon in many founder populations such as Romani. Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by mutations in the CYP21A2 gene. The aim of the study was to estimate the prevalence of 21-OHD and the frequency of particular CYP21A2 gene mutations in the Croatian Romani population. Methods. Data f...

Background: Recent research has demonstrated earlier testicular and pubertal development in Western boys. New ultrasound-based references of testicular growth in Norwegian boys are now available. Population specific references for FSH, LH and sex steroid hormones have not been previously available in Norwegian children and adolescents.Objective and hypotheses: We aimed to provide an elaborate description of pubertal development in a sample of contemporar...

Introduction: In recent years there have been rapid advances in modern communication technologies that have reached almost every child in the western world. The ways children interact and consume new information have changed in the digital age. Yet, most of the GH patients’ training is based on a face to face interaction using written materials.Aims: To increase patients’ knowledge, enhance positive feelings and decrease significantly fears of ...

Introduction: Iodine deficiency is the most common cause of mental retardation that can be prevented. The most serious consequence of iodine deficiency is cretinism. The Republic of Tuva is one of 89 administrative territories of the Russian Federation. Tuva lies in the south of Siberia and bordering Mongolia. In 1997 we first discovered the pocket of severe iodine deficiency in the Republic of Tuva and found cases of endemic cretinism. The aim: To study the features of iodine...

Introduction: Hypophosphatasia (HPP) characterized by reduced mineralization results from mutations in the tissue non-specific alkaline phosphatase (ALPL) gene. HPP is clinically variable with extensive allelic heterogeneity in the ALPL gene. We report the findings of in vitro functional studies following site-directed mutagenesis in bi-allelic mutations causing extreme clinical phenotypes; severe perinatal and asymptomatic HPP.<...

Background: Glypican-4 is a heparan sulphate proteoglycan. In addition to a membrane-bound glypican-4, a soluble form exists. Human and rodent adipose tissue were identified as source of circulating glypican-4. Glypican-4 serum levels are associated with obesity and insulin resistance, as in type 2 diabetes (T2D). Because of its positive effect on insulin sensitivity, glypican-4 might play a role in the development of obesity, insulin resistance, and T2D. We a...

Objective: We aim to investigate the association among progranulin (PGRN), high-mobility group box 1 (HMGB1), and obesity related markers in young rat model of high fat diet-induced obesity.Materials and Methods: 20 Male Sprague-Dawley (SD) rats at the age of 21 days were divided into two groups randomly. The rats were fed with normal diet (NC group) or high-fat diet (OB group). The NC group and OB group were sacrificed ...

The stimulants that the mother is exposed during pregnancy may affect the baby in the future. Electromagnetic field exposure is an important external stimulus that we are subject to. In addition to the interaction of the earth and the sun with the magnetic field of man; nowadays the intensive use of electrical appliances, computers, mobile phones and internet, how electromagnetic field exposure may affect future generations will only occur in the continuation of our generation...