ESPE Abstracts

Background: The circadian rhythm-generating peripheral Clock/Bmal1 heterodimer complex regulates the circadian activities of many biological systems, including the hypothalamic-pituitary-adrenal (HPA) axis, by trans-activating or trans-repressing downstream target genes.Objective and Hypotheses: To investigate the potential role of elevated cortisol in Clock/Bmal1 heterodimer complex-generated circadian biorhythms, both ...

The Easypod™ Connect Observational Study (ECOS) was the first global study of easypod™, currently the only electronic injection device for recombinant human growth hormone (r-hGH; Saizen®). ECOS reported accurate and robust real-time adherence data in a large cohort of patients. In this analysis, we assess the adherence of r-hGH administered via easypod™ in a cohort of Greek patients from ECOS (EMR200104-520, NCT01363674). Patients aged 2–18...

Background: Optimal glycemic control in children and adolescents with type 1 diabetes mellitus (T1DM) is often hampered owing to psychologic maladjustment of both patients and their parents. Accumulating evidence suggests that hyperglycemia may be associated with prolonged activation of the stress system.Objective and hypotheses: To pilot test a 12-week intervention program including psychoeducation about stress, healthy lifestyle, diaphragmatic breathin...

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...

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: Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by mineralocorticoid resistance with subsequent salt wasting, hyperkalemia, metabolic acidosis, and elevated plasma renin and aldosterone levels.Patients and methods: We report a male newborn that presented with failure to thrive and sustained hyponatremia during his early postnatal period. He was conceived after IVF (twin pregnancy) and prematurely born by cesare...

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...

Background: DAX-1 mutation is a rare genetic cause of adrenal insufficiency also causing hypogonadotropic hypogonadism.Case presentation: The patient was born to a G1P1 mother. At the age of 1 month he developed acidosis, hyponatremia, hyperkalemia, diagnosed with congenital adrenal hyperplasia and started on hydrocortisone and fludrocortisone. No CYP 21 mutation was identified, fludrocortisone was continued for presumed hypoaldosteronism, hydrocortisone...

Background: Diabetic ketoacidosis (DKA) is a severe and often the inaugural clinical manifestation of type 1 Diabetes (T1D). Diabetic nephropathy is one of the most devastating chronic complications of T1D and its’ early diagnosis is traditionally based on microalbuminuria.Objective and hypotheses: The aim was to investigate the possible associations between the initial clinical manifestations and the chronic complications of T1D.<p class="abste...

In this case-control study 19 Greek adolescents with Polycystic Ovary Syndrome (PCOS) and 21 non-PCOS controls were assessed for their hormonal, somatometric and autonomic nervous system profile in supine position. The study adhered to the Helsinki Guidelines of Good Clinical Practice. Significant differences were found only in very low frequencies (VLF) (P = 0.008) and Power spectral density RR (PSD) (P < 0.001) between adolescents with PCOS and controls...