ESPE Abstracts

Background: U.V. radiation exposure is the major environmental risk factor for skin cancers. However, sun avoidance leads to inadequate vitamin D levels which impair bone health. Moreover, numerous studies linked decreased sunlight exposure to non-skin cancer incidence or survival.Objective and hypotheses: To compare sun habits in a cohort of paediatric patients with a history of malignancy to healthy controls. We hypothesized that sun exposure will be d...

Background: Growth hormone (GH) has been used for over 50 years to benefit both children with GH deficiency (GHD) and other forms of short stature as well as to correct the metabolic abnormalities found in adults with GHD (AGHD). Moreover, low IGF levels have been associated with the risk of diabetes, heart disease and osteoporosis. On the other hand, epidemiological studies suggest that high IGF-1 levels may be associated with cancer risk in the general population. Furthermor...

Background: Liraglutide (SAXENDA®) is a glucagon-like peptide 1 (GLP-1) receptor agonist approved as an adjunct for chronic weight management in combination with a reduced-calorie diet and increased physical activity. Previous case reports have suggested an association between liraglutide use and acute kidney injury in adults, particularly at maintenance doses of 1.2 mg/day or higher. However, there is less data on the impact of liraglutide in the adolesce...

Background: Among individuals with DSD, some conditions are more prone to develop distress about ones assigned gender (gender dysphoria; GD) than others. For instance, the percentage of gender change and GD in female-raised persons with testosterone synthesis deficiencies is around 50%, whereas GD hardly seems to occur in complete androgen deficiency syndrome. Unfortunately in many studies information on GD and gender role changes often cannot easily be determined and clinical...

Background: TV-1106 (Teva Pharmaceuticals Ltd) is a genetically fused recombinant GH (rhGH) and human serum albumin in development as a once weekly treatment of GH deficiency (GHD) in children and adults. TV-1106 has an extended duration of action compared to daily rhGH treatment, reducing the frequency of injections.Objective and hypotheses: The pharmacokinetics and pharmacodynamics of TV-1106 were evaluated in phase 2 study using non-compartmental anal...

Background: Recent studies in multiple models of type 1 diabetes mellitus (T1DM) have demonstrated the role of mitochondrial abnormalities in the pathogenesis of this disease and its complications. Humanin is a potent cyto-protective and ‘metaboloprotective’ molecule in vitro and in vivo, including the protection of β cells from apoptosis, improvements in insulin secretion and action, and both prevention and treatment of diabetes in the NOD mou...

Background: Hypophysitis is an uncommon inflammatory disorder of the pituitary gland and is classified both clinically (Primary vs secondary) and histologically (lymphocytic, granulomatous or xanthomatous). Primary hypophysitis is exceptionally rare in the paediatric population with only a few cases reported, the majority being Lymphocytic Hypophysitis.Case Report: We present the case of a previously healthy 14-year-old ...

Background: Androgen Insensitivity syndrome (AIS), the most common cause of XY DSD, is an X-linked recessive allelic disorder caused by Androgen Receptor (AR) gene mutations. The complete form (CAIS) stems from abrogation of AR activity and is characterized by an external female phenotype and scarce pubic hair, as well as lack of Mullerian structures. Postnatal gonadotropin and testosterone levels are not increased, and the classical ‘Mini-puberty’...

Background: The advantages of physical activity are particularly emphasized in children with type-1-diabetes and 60 minutes of regular daily activity is recommended. However, reports suggest that children with type-1-diabetes perform less than the recommended daily activity and are less active than their non-diabetic peers. This study aimed to: i) Identify barriers and sources of support for exercise performance in children and adolescents with type-1-diabetes. ii) Identify st...

Background: NKX2-2 gene mutation (reported in 3 cases worldwide) cause severe IUGR and neonatal diabetes. Beta-cells of the mice Nkx2-2 (−/−) model were recently shown to convert into cells producing the appetite-promoting peptide ghrelin. Classically, ghrelin secretion is stimulated during fast and suppressed by nutrients or glucose ingestion in all age groups. In obese children this ghrelin suppression reaches a minimum of 60% of base...