ESPE Abstracts

Background: An important issue in the management of congenital hypothyroidism (CH) is the best initial dose of levothyroxine (L-T4) in order to achieve optimal neurocognitive outcomes. Both European and American guidelines suggest an initial dose of 10–15 μg/kg per die but trials on long-term effects of different doses within this range are lacking.Objective and hypotheses: This was a multicenter randomized trial to ev...

Background: OTX2 is expressed in the human brain and plays a key role in the eye development. OTX2 mutations are reported in patients with ano/microphtalmia, optic nerve or optic chiasm hypoplasia, ocular coloboma and retinal dystrophies, associated in some cases with brain or pituitary abnormalities.Objective and hypotheses: Most of OTX2 mutations are nonsense or frameshift, more rarely missense mutations occur.Method: We...

Background: Puberty is characterised by important changes of brain networks. The glutamate system plays a main role in modulating the onset of puberty as shown for NMDA receptor agonists. However, the underlying mechanisms are poorly understood. Metabotropic mGlu5 receptors (mGluR5) are tightly linked to NMDA receptors. The effect of mGluR5 blockade on neurohormonal mechanisms in puberty initiation were not studied yet.Objective and hypotheses: To invest...

Objective: to assess the prevalence of endocrinopathies in a pediatric population of Rett syndrome (RTT) patients.Design: retrospective observational double center study.Methods: 51 caucasian patients (47 girls, 4 boy) with genetically confirmed diagnosis of RTT were enrolled (mean age: 9.65±5.9 years, range: 1-18 years). The patients were referred from the Rett Center of two It...

Introduction: Familial male-limited precocious puberty (or testotoxicosis) is a very rare genetic disorder with autosomal dominant transmission that causes gonadotropin-independent precocious puberty due to mutations activating the lutropin-chorionic gonadotropin receptor (LHCGR), which lead to elevated testosterone levels and suppressed gonadotropins. The age of onset is between 2-5 years essentially with penis and testes enlargement, linear growth accelerati...

Background: CTP-modified hGH (MOD-4023) has been developed for once weekly administration in GH deficient (GHD) adults and children. Immunogenicity samples of once-weekly s.c. administration of MOD-4023 were detected for the presence of binding and neutralizing anti-MOD-4023 Ab’s in pediatric Phase 2 study.Objective and hypotheses: During the first year of the study, 53 pre-pubertal GHD children were treated with once-weekly s.c. injections of one o...

Wieacker-Wolff syndrome, first described in 1985, is a rare congenital syndrome caused by ZC4H2 mutation reported in 9 family and 6 sporadic cases to date. It is an X-linked recessive disorder characterized by congenital joint contractures, mental retardation, progressive neurologic muscular atrophy, scoliosis, and hypoglycemia. A nine-year-old boy with brain atrophy, mental retardation, scoliosis, developmental dysplasia of the hip, convulsions, and exotropia presented to our...

Introduction: Preclinical models demonstrated that Angiopoietin-like protein 4 (ANGPTL-4) regulates lipid metabolism and affects energy homeostasis. However, no data exist regarding its involvement in childhood and adolescence, periods of life with important metabolic changes.Objectives: We aimed to investigate circulating levels of ANGPTL-4 in children and adolescents and its relationship with gender, puberty and obesit...

Introduction: Type 1 Diabetes is a condition associated with deficiency of insulin, which is a key regulator of carbohydrate and fat metabolism. Most newly diagnosed type 1 diabetes present with diabetic ketoacidosis, which is a triad of hyperglycemia, ketonemia and acidosis. It usually presents with features of acidosis such as lethargy, dehydration, and tachypnea.Case: We present a case that presented to us with a lipemic blood sample and on further wo...

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (IPEX) is caused by mutations in the gene that encode for the transcription factor FOXP3. IPEX is a rare, often fatal disease. However, several cases present later onset, mild forms or less common clinical manifestations. We report a case who had de novo mutation of FOXP3 causing neonatal diabetes but without other features of IPEX syndrome. An 8 days old male, late preterm at 36 weeks, low birthweight 2200g...