ESPE Abstracts

Background: Paragangliomas are exceptionally rare neuroendocrine tumours for children and adolescents, located in an extraadrenal position and usually producing catecholamine.Case presentation: A 13.5-year-old girl with a known history of multiple exostosis disease was presented for investigation of two large nodal oval para-aortic lesions, which were incidentally found during abdominal ultrasonography. Medical history of the girl included non-autoimmune...

Introduction: Autoimmune polyendocrinopathy syndrome (APS) is an inherited rare autosomal recessive disorder caused by mutations of the AIRE (autoimmune regulator) gene with organ-specific autoimmune destruction of several, mostly endocrine. APS patients may develop autoimmune enteropathies and other intestinal dysfunctions.Aim: We describe a case of eosinophilic ascites in a nine-year-old girl with APS.<p c...

Background: Thyroid dysfunction may predispose to imbalanced body composition.Objective and hypotheses: The aim of the study is to evaluate bone, muscle and fat mass in teenagers with congenital hypothyroidism and correlate their bone profile with laboratory parameters, in an effort to offer more effective lifestyle counselling.Method: Adolescents diagnosed with congenital hypothyroidism through neonatal screening underwent thoroug...

Background: Obesity in childhood and adolescence represents a major health problem and its management requires a multidisciplinary approach.Objective and hypotheses: To assess the main eating habits of children and adolescents attending an Out-patient Clinic for the Prevention and Management of Overweight and Obesity in Greece, as recorded before implementing any intervention.Method: We studied 1005 children and adolescents [age ra...

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: Alterations in DNA methylation status of specific genetic loci may affect gene expression, thus leading to autoimmunopathies.Objective and hypotheses: This study aimed to investigate possible differences in DNA methylation pattern between type 1 diabetes mellitus (T1DM) youngsters and healthy controls.Method: Ten T1DM participants and 10 age-/gender-matched controls were enrolled. DNA was extracted from white blood cell...