ESPE Abstracts

Introduction: Phosphoglucomutase 1 catalyzes the interconversion of glucose-6-phosphate and glucose-1-phosphate. Phosphoglucomutase 1 deficiency (PGM1-CDG), previously termed glycogenosis type XIV (OMIM 612934), is a rare variant of the congenital disorders of glycolysation (CDG), resulting in abnormal attachment and processing of protein linked N-glycans. We present a girl with PGM1-CDG and delayed pubertal development and review the endocrine findings of the few pat...

Background: Osteogenesis imperfecta (OI) is a rare disease leading to an increased bone fragility due to a reduced bone mass. Pathological fractures are the most severe symptom. More than 85% of patients are affected by mutations in COL1A1/A2 impairing quantity and quality of collagen. No approved drugs for OI treatment in childhood are available.Objective and hypotheses: A prospective pilot study was performed to assess safety and effi...

Background: Placenta tissue hold great promise as a source of cells for regenerative medicine due to its plasticity and easy availability. Amniotic Mesenchymal Stem Cells (AMSC) represent a potentially unlimited source of functional pancreatic endocrine lineage cells, used to replenish the islet mass in diabetic patients.Objective and hypotheses: The aim of our study is to culture AMSC in serum-free condition preserving their phenotypic traits. These cul...

Background: It has been discussed in literature, that being severely obese and adolescent are predictive for failure in a behavior based weight-loss program.Objective: To investigate the association between age and initial BMI-SDS with BMI-SDS courses during and after the attendance of an inpatient weight-loss program.Design: The LOGIC-trial involves overweight and obese children and adolescents (6–19 years), who participate i...

Background: Lipid assessment is emerging as a useful and easy detectable tool to define the overall cardiovascular risk in children and adolescents. Nevertheless, no all dyslipidemic patients suffer the same cardiometabolic consequences.Objective and hypotheses: To compare anthropometric, biochemical and blood pressure variables among dyslipidemic children and adolescents according to the presence of metabolic syndrome (MetS).Metho...

Background: Terminal deletions of chromosome 15q are associated with different degrees of pre- and post-natal growth failure, dysmorphic features, functional impairments and congenital anomalies. Although monosomies of 15q26 do not represent a classical contiguous gene syndrome, candidate genes for selected features have been identified. Short stature is referred to deletions of the IGF1-R gene, located on 15q26.3. We demonstrate evidence of phenotype comparable with 15q26 mon...

Background: Since the publication of international growth charts by the World Health Organization (WHO) in 2006, the use of national growth charts for growth monitoring (GM) has been questioned.Objective and hypotheses: To evaluate the potential impact of using WHO vs. national growth charts on the performance of a clinical decision rule for detecting children with one of the target conditions of GM: GH deficiency (GHD).Method: In ...

Background: In industrialised countries, the main goal of growth monitoring (GM) of apparently healthy children is the early detection of severe underlying conditions. However, empirical evidence suggests globally poor performances of GM, with important diagnosis delays for priority target conditions and many unnecessary referrals for diagnostic work-up for disease-free children.Objective and hypotheses: To evaluate and to compare the performance for ear...

Background: Children affected by cerebral palsy (CP) could experience central precocious puberty (CPP) 20 times more than general population. Nevertheless, the treatment is challenging.Objective and hypotheses: To compare CPP features and the effects of gonadotropin-releasing hormone agonist therapy (GnRHa) in children with CP and in controls.Method: The study involved 16 children with CPP and CP (median age (range) at diagnosis of...

Background: Thyroid disorders (subclinical hypothyroidism and structural abnormalities) are common in Williams syndrome (WS) patients.Objective and hypotheses: Central hypothyroidism and GH deficiency (GHD) in a WS patient are discussed.Method: Case report and literature review.Results: A 5-month-old male was admitted to our hospital because of growth failure since the 3rd month, mild dysmorphisms, micropenis...