ESPE Abstracts

Introduction: Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive disease which is caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene and is characterized by severe early – onset osteoporosis and vitreoretinal complications leading to blindness by young adulthood.Case presentation: We present a case of an 8 years old boy, who was initially referred to our d...

Background: Childhood obesity is considered to be an epidemic in developed countries that can negatively affect children’s health and psychology.Aims and objectives: To investigate the nutritional and environmental factors that lead to the presence of childhood obesity and its complications.Methods: A total of 949 students, 3–12 years old, living in Sparta–Greece, have participated in our research. Their lifestyle an...

Background: Forkhead box P3 (Foxp3) is an important regulatory factor for the development and function of T regulatory cells (Tregs). Moreover it has been established that deficiency of the Foxp3 gene in Treg cells suppresses their regulatory function leading to the development of autoimmune diseases especially autoimmune thyroid diseases (AITDs).Objective and hypotheses: The aim of our study was to estimate the association of three polymorphism of FOXP3...

Background: Congenital hypopituitarism (CH) genetics is highly heterogeneous. The massive use of NGS identified at least 21 desease causing genes. Not fully understood inheritance mechanism, incomplete penetrance and variable expressivity explain the complexity of phenotype-genotype correlations. To further complicate the scenario, the co-occurence of more than one desease-causing genes variants can geopardize the phenotype. Herein, we report the heterogeneous...

The ongoing European LIFE-MILCH project(www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages to establish a risk assessment model to prepare safety guidelines. In this study we have evaluated the effects of maternal diet during and after pregnancy, and of duration of ...

The ongoing European LIFE-MILCH project (www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages, and ano-genital distance (AGD) to establish a risk assessment model to prepare safety guidelines. In this study we evaluated the effects of maternal diet during and after pr...

Background and Aim: Multifaceted risk factors impair bone mass (BM) in childhood brain cancer survivors(CBCS). Aims of the study were to evaluate bone mass and it's determinant and fracture prevalence in CBCS 2(G+2), 5(G+5) or 7(G+7) years after off therapy (OT).Methods: Seventy-three(G+2), 87(G+5) and 66(G+7)CBCS were evaluated at 12,9±4,2, 14,9±4,4 and 16,6±4,4yrs, respectivel...

Background: Decreased bone mineral density (BMD) and increased fracture risk have consistently been observed in type 1 diabetes mellitus (T1DM). The influence of T1DM on BMD seems to depend on gender or patient’s age and to occur early after T1DM diagnosis. The mechanisms of decreased BMD in T1DM patients are still unknown.Objective and hypotheses: To investigate the serum levels of dickkopf-1 (DKK-1), a Wnt signaling inhibitor which decreases bone ...

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes.Objective: To evaluate the relationship between sensitivity t...

Background: Haemopoietic stem cell transplantation (HSCT) has become the treatment of choice for many inherited and acquired pediatric disorders. Cure is not without consequences, and HSCT survivors are at risk of early mortality and developing endocrine complications. Thyroid is highly susceptible to damage from the conditioning therapy for HSCT. The aim of this study is to evaluate the percentage and risk factors of thyroid dysfunction and risk factors of it...