ESPE Abstracts

Background: Early onset of androgen excess in pre-pubertal children is usually caused by called premature adrenarche (PA). PA is characterised by the development of pubic and axillary hair, adult-type body odour in girls <8yrs and in boys <9yrs. PA may be a forerunner condition of polycystic ovary syndrome (PCOS), a complex metabolic disorder also characterised by androgen excess. Women with PCOS have higher risk of developing type 2 diabetes, dyslipidae...

Background: Prader Willi Syndrome (PWS) is a rare genetic disorder with a wide range of symptoms manifestation. Main characteristics are hypotonia, growth retardation, feeding difficulties in neonatal period, increased appetite and obesity in childhood, delayed puberty or hypogonadism in adolescence. It is also associated with behavioral disturbances and impaired cognitive function. The genetic defect is located on the 15q11-13 chromosome.Objective and h...

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: Although the majority of Growth Hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include ‘atypical’ GHIS subjects with milder phenotypes due to very rare heterozygous GHR mutations with dominant negative effects.Case description: A 13 year old pubertal boy was presented with short stature (−1.7SD) and delayed bone age (11 6/12). Final adult height was &#8...

Background: Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by loss-of-function mutation(s) in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP). Poor skeletal mineralisation, muscle weakness, pain, and accompanying complications characteristic of HPP result in impaired physical function, decreasing ability to perform daily activities, and quality of life. Improvement in physical function is a treatment target, yet established physical ac...

Background: Secretion of Wnt-proteins by adipose cells plays an important role in the control of adipogenesis. The Wnt-antagonist, dickkopf-1 (DKK-1), is secreted by human pre-adipocytes and influences adipocyte maturation and growth. DKK-1 mRNA increases 6 h after onset of human adipogenesis followed by an increase in DKK-1 protein. Of note, DKK-1 protein has been implicated also in bone remodeling pathways.Patients and Methods: In this study we measure...

Introduction: Obesity as a chronic inflammatory disease is associated with impaired prothrombotic state leading to atherothrombosis. A variety of prothrombotic factors have been implicated in the pathophysiology of this phenomenon, especially the von Willebrand factor (vWF) produced in endothelium, megakaryocytes and subendothelial connective tissue. The aim of this study was to investigate any possible association between the new inflammatory marker chitinase 3-like protein 1...

Background and aims: Fat and bone are linked by a multitude of pathways supporting a skeleton appropriate for the mass of adipose tissue of the organism. We aimed to investigate the relations of adipose tissue hormones such as leptin, adiponectin, retinol-binding-protein-4 (RBP-4) and lipocalin-2 along with the low grade inflammation marker hs-CRP with markers of bone metabolism such as osteoprotegerin (OPG), receptor-activator of NF-κB ligand (RANKL), osteocalcin, C-term...

Background: According to current literature 1-h glucose ≥155 mg/dl during an oral glucose tolerance test (OGTT) is considered an independent predictor of β-cell deterioration and future progression to prediabetes in obese individuals.Objective and hypotheses: To investigate whether determination of glucose level obtained 1-h after glucose load can improve predictive ability of prediabetes.Method: Ninety-eight overweight/...

Background: Adolescence represents a period of one’s life when profound mental and physiological adjustment take place marking the transition to adult life. Obesity is a common health issue amongst Greek adolescents often following an obese childhood.Objective and hypotheses: We intended to assess the dietary, lifestyle, and metabolic profile of adolescents followed at the outpatient clinic of our hospital.Methods: 253 adolesc...