ESPE Abstracts

Itroduction: Thiamine responsive anemia (TRMA) known as Rogers syndrome; is an early-onset, autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Diabetes in this condition is well described in infancy but has only very rarely been reported in association with neonatal diabetes.Case: 3-months old male patient with neonatal diabetes was admitted to our outpatient clinic because of uncontrolled hy...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare syndrome characterized by unresponsiveness or resistance to the action of aldosterone. It manifests with persistent salt loss, resulting in hyponatremia, hyperkalemia and metabolic acidosis. High levels of aldosterone and renin activity, confirms the diagnosis. When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease. Often occurs in the neonatal period and presents with recurrent ...

The aim: Of this study was to describe longitudinal changes in body composition and serum leptin, ghrelin and adiponectin levels over 36-month period in prepubertal rhythmic gymnasts (RG) and their age-matched untrained controls (UC) entering into puberty.Methods: 35 RG (mean age 8.0±0.6 years) and 33 UC (8.2±0.6 years) were followed at 12-month intervals for the next 3 years. Height, weight, pubertal stage, body composition by DXA and serum le...

Background: Several pharmaceutical formulations marketed GHRH, were being restricted in their choice occasions. Three display groups: single-dose, pre-filled pens/vials and electronic devices, self-injection systems. The choice may contribute to a greater or lesser adherence and a difference in the final cost of treatment (drug loss), attributable to the device itself or presentation. Presentations that require reconstitution device load, partial doses or stop in Pen contribut...

Background: GH has several effects on lipid and glucose homeostasis. In adults GH deficiency (GHD) has been associated to increased mortality for cardiovascular disease (CVD). In childhood few studies have investigated the effect of GHD and recombinant human GH (rhGH) therapy on metabolic parameters that may increase the risk of CVD.Objective and hypotheses: To assess changes of lipid profile, insulin-resistance indexes, and CVD risk in children and adol...

Background: A good metabolic control in preschool children with type 1 diabetes (DM1) is particularly challenging, being easier and safer with continuous subcutaneous insulin infusion (CSII) compared with multiple daily injections (MDI).Objective and hypotheses: Evaluate and compare metabolic control of preschool children with DM1, before and 9 months after CSII therapy.Method: Analytical retrospective study of children under the a...

Background: Hereditary vitamin D-resistant rickets (HVDRR) is a rare disease caused by mutations in vitamin d receptor (VDR). Patients with HVDRR are usually treated with intravenous calcium (i.v.-Ca) therapy via a central catheter. However, central catheter-related complications can cause important morbidity. In this report, we described four patients with HVDRR from different families. In three of these cases we used a novel therapeutic regime of intermittent IV-Ca ...

Background: Male genital abnormalities may be associated with environmental endocrine disruptors.Objective and hypotheses: To observe the hypothalamic kiss-1 gene and the testis androgen acceptor (AR) gene expression level changes and the level of serum luteinizing hormone (LH), follicle stimulating hormone (FSH); testosterone (T) and Inhibin B (INH B) in neonatal rats which exposure to different doses of bisphenol-A (BPA). In order to explore the effect...

Background: Gonadal dysfunction is one of the major endocrinological late effects among cancer survivors. Chemotherapeutic agents and radiation are so gonadotoxic that ovarian reserve diminishes. Measurement of anti-müllerian hormone (AMH) concentration is useful as a marker of ovarian reserve or gonadal deficiency in female childhood cancer survivors (CCSs), particularly among patients without high gonadotropin levels.Objective and hypotheses: The ...

Background: Hypothyroidism is a common problem during childhood generally due to autoimmune thyroid disease. It can also occur in case of severe loss of serum proteins, as well as in the case presented. The most accepted practice in the treatment of hypothyroidism consists in the oral administration of LT4. Many conditions may affect the absorption of LT4.Case presentation: We report an original case of LT4 malabsorption ...