ESPE Abstracts

Introduction: Differential diagnosis of thyroid hormone resistance (beta) and TSHoma should be made in patients with high free thyroxine (f-T4) and free triiodothyronine (f-T3) and non-suppressed thyroid stimulating hormone (TSH) levels. The aim of this study was to present the results of etiological research in a patient with Down syndrome who was clinically euthyroid and had high levels of f-T4, f-T3, normal TSH levels.Case</st...

Background: Hashimoto Thyroiditis (HT) and Graves Disease (GD) are conditions known to be caused by abnormal immune response against self-tissues. The biological processes at molecular lever are still poorly understood. A few epigenetic studies have been published so far.Objective: To investigate whether there are differences in DNA methylation within the HLADRB1, CD40L, FOXP3, CTLA4, FCRL3, IL2RA and PTPN22 promoters between young patients with autoimmu...

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

Background: Hormonal replacement in boys with congenital HH remains a challenge. Micropenis has been traditionally successfully treated with 3 monthly injections of testosterone enanthate before the age of 2, but when bilateral cryptorchidism coincides, surgery is required. But even after a successful surgery, the hypoplastic testes with the deficient proliferation of immature Sertoli cells, due mainly to the lack of the male mini-puberty in the neonatal period as well as the ...

Background: A positive association between osteoprotegerin (OPG) levels and cardiovascular morbidity and mortality has been recently reported. Additionally, there is evidence that OPG in obese adults participates in the pathogenesis of atherosclerosis and cardiovascular diseases by promoting inflammation, which is known to be linked to insulin resistance (IR). There is few data regarding the relationship among obesity-IR-OPG, in youth.Objective and hypot...

Background: GH treatment aims to normalise growth, increasing growth velocity, thus helping patients achieve an adult height in the normal range for the general population and for their familial genetic potential.Objectives: To evaluate the efficacy of early replacement therapy with recombinant GH (rGH) in Caucasian pre-pubertal children treated for GH deficiency.Methods: Our study included 64 boys and 49 girls, diagnosed with part...

Background: The prevalence of childhood obesity has increased dramatically in the last decades and accounts for a significant increase in morbidity and mortality in adulthood.Objective and hypotheses: To determine the prevalence of 25-hydroxyvitamin D insufficiency and deficiency in overweight and obese children and adolescents.Method: 350 (n=350) children and adolescents (153 males (M), 197 females (F)) were recruited to ...

Background: Data regarding the prevalence of metabolic syndrome (MS) in Greek adolescents and the effect of school interventions are scarce.Objective and hypotheses: To study the prevalence of MS in a representative sample of Greek adolescents and evaluate the impact of a 6-month educational-behavioral intervention.Method: Cross-sectional anthropometric data ((height, weight, waist circumference (WC)), blood pressure (BP), fasting ...

Aim: To highlight the role of in-vivo magnetic resonance spectroscopy (MRS), as a non-invasive tool that can clarify the specific etiology of a sellar tumour in a boy with precocious puberty.Case presentation: A 4-year-old boy was admitted due to repeated episodes of focal seizures with fixed gaze, head turn to the right, and postictal drowsiness. Parents reported episodes of inappropriate laughter ("gelastic seizures") in the pr...

Background: Obesity in childhood and adolescence represents a major health problem of our century, and accounts for a significant increase in morbidity and mortality in adulthood. In Greece, more than 30–35% of children and adolescents are overweight or obese.Objective and hypotheses: To investigate the effectiveness of a comprehensive and personalized multidisciplinary management plan in reducing the prevalence of overweight and obesity in childhoo...