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...

Background: Turner syndrome (TS), affects approximately 1/2500 live female births. The clinical features range from a severe phenotypic character to reduction of final height and premature ovarian failure.Objective and hypotheses: Processing of sensory information from visual, vestibular and somatokinesthetic systems is required to organize an adequate motor response aiming at gaze and posture stabilization according to the expected task and to the envir...

Background: Turner syndrome (TS) is classically a sporadic cause of short stature and gonadal dysgenesis in girls. We report familial variant TS affecting twelve individuals of both sexes over three generations. Affected children manifest short stature and varying degrees of neurodevelopmental disorder but no visceral abnormalities.Case presentation: A 27-year-old female in her 12th pregnancy presented for 20-week ultrasound. Fetal cardiac and...

Newer studies have indicated that vitamin D has more widespread effects than the classical effects on bone and calcium-phosphate homeostasis. The presence of the vitamin D receptor (VDR) in the testis and male reproductive tract indicates a role for vitamin D in male reproduction. Indeed, vitamin D deficiency and global knock out models of VDR or CYP27B1 in rodents have shown that vitamin D and calcium are important regulators of male reproductive function. Several groups have...

Introduction: Peroxisomal biogenesis disorders - Zellweger Syndrome Spectrum (PBD-ZWS) are rare disorders involving multiple systems including the central nervous system, adrenals, liver and skeleton but hyperinsulinism is not a recognized association. We present a child with PBD-ZWS due to a novel mutation in PEX1 who developed hyperinsulinaemic hypoglycaemia (HH).Case report: A 7 month old boy presented with recurrent hypoglyc...

Background and Aims: Gestational obesity can cause metabolic programming in the offspring. Epigenetic modifications of DNA have been suggested as potential mechanisms underlying this programming. FRAT-1 is a gene involved in the WNT signaling pathway, which is an important regulator of adipose tissue development. The objective of this work was to study the methylation status of FRAT-1 in placentas of women with either normal weight or gestati...

Abstract: Epidemiological and clinical data on LD in children and adolescents with T1DM are growing since 2010 because of the introduction of new insulin analogs and the use of insulin pumps (CSII). Many risk factors predispose to the occurrence of LD.Objectives and Methods: We performed an electronic search in PubMed, Google scholar and Web of Sciences to evaluate the global prevalence and possible risk factors of LD in...

Lipohypertrophy (LD) represents the most common cutaneous complication of insulin therapy worldwide. Epidemiological and clinical data on LD in children and adolescents with T1DM are growing since 2010 because of the introduction of new insulin analogs and the use of insulin pumps (CSII).Objectives and Methods: We performed an electronic search in PubMed, Google scholar and Web of Sciences to evaluate the global prevalence and possible r...

Introduction: Obesity in childhood and adolescence has been recognized by the WHO as a global epidemic and a major public health problem. Greece, is one of the main countries in Europe where the problem of childhood obesity has increased rapidly. This rise can be attributed to dietary and physical activity risk factors. Recently, there has been a need for a detailed recording and assessment of the lifestyle habits of children and adolescents receiving personal...

Introduction: Obesity in children and adolescents is increasing, and represents a global concern regarding future health related consequences. It has been classified as a disease that affects a large number of individuals.Materials and Methods: We have recruited 119 obese children and adolescents from our outpatient Pediatric Endocrine Clinic for metabolic evaluation between the year 2018-2022. There was a 2year disconti...