ESPE Abstracts

Objectives: In X-linked hypophosphatemia (XLH), abnormally elevated serum Fibroblast growth Factor 23 (FGF23) results in low renal maximum threshold for phosphate reabsorption, low serum phosphorus, inappropriately normal 1,25-dihydroxyvitamin D, and development of rachitic deformities. The effect of KRN23 on health-related quality of life (HRQL) was assessed.Methods: Open-label KRN23 was given s.c. every 28 days up to four doses to 28 adults with XLH (2...

Background: The bone mass deficit in pediatric Crohn’s disease (CD) is associated with low total body lean mass and suppression of bone turnover.Objective and hypotheses: We examined at diagnosis whether the sarcopenia is associated with leg muscle hypofunction, changes in tibia muscle–bone indices as well as overt bone strength loss (vertebral fractures, VF).Method: 70% children with CD were studied within 2 weeks of dia...

Introduction: There are few longitudinal male cohort studies with serial assessments of growth and puberty.Objective: To describe the design and implementation of a longitudinal cohort study of Russian boys evaluated annually for growth, development and puberty.Design/methods: We assembled a multi-disciplinary team of U.S. and Russian researchers to design and conduct a longitudinal boys’ cohort study in Chapaevsk, Russia with...

Background: We are not aware of other longitudinal cohort studies of boys with annual assessments of pubertal development and long term follow-up to adulthood to evaluate semen quality.Objective: To describe semen quality and investigate its predictors in a longitudinal cohort study of Russian boys followed from prepuberty until adulthood.Design and methods: From 2003 to 2005, 516 prepubertal 8–9-year-old boys were enrolled (8...

Background: We are not aware of other longitudinal cohort studies of boys with prepubertal assessment of exposure to endocrine-disrupting chemicals (EDCs) and annual long term follow-up of growth and puberty to evaluate semen quality.Objective: To describe semen quality and explore associations of prepubertal serum concentrations of organochlorine compounds and pubertal measures with semen parameters in an ongoing longitudinal cohort study of Russian boy...

Background: Glibenclamide has proven to be efficient for patients with neonatal diabetes owing to potassium channel mutations. Anyway its pharmaceutical form is not suitable for young children or infants. The tablets dosage is too high for most infants and must be crushed and diluted before administration. We developed a suspension of glibenclamide (EMA Orphean drug designation january 2016) fitting recommendations of drug administration to allow a precise dosage and designed ...

Background: Acquired Von Willebrand's syndrome (aVWS) associated with hypothyroidism is rare in children and more often diagnosed during the peripubertal period in the context of Hashimoto's thyroiditis.Case presentation: A 5-year-old girl was referred to the paediatric haematology unit for rectal bleeding, anaemia, and prolonged activated partial thromboplastin time. Her developmental and learning skills were no...

Background: A meta-analysis of 39 studies using multicomponent lifestyle interventions, in comparison to standard, minimal, or no treatment identified a mean difference in BMI z-score of -0.12 (95% CI -0.17 to -0.06) at six months. However, a minimum BMI-SDS reduction of 0.25 or greater has been shown to improve metabolic health in overweight children. We describe our experience in a multidisciplinary (MDT) clinic at a tertiary children's hospital with...

Background: Interplay of various factors contribute to development of morbid childhood obesity and to its recalcitrant nature making it a treatment challenge. A tertiary level, structured multidisciplinary outpatient approach may not always be sufficient in identifying morbid obesity causation. In the absence of other effective treatment modalities, a hospital stay approach can be a suitable option in selected resistant cases.Met...

Background: Pseudohypoparathyroidism type 1A (PHP1A) and PseudoPHP are caused respectively by maternal and paternal mutations involving those GNAS exons that encode the alpha-subunit of the stimulatory G protein (Gsα). Common to different forms of PHP1B is a loss-of-methylation (LOM) at one or several maternal GNAS exons, which likely reduces Gsα expression in certain tissues. In most autosomal dominant PHP1B variants (AD-PHP1B), LOM is restricted t...