ESPE Abstracts

Keywords: Achondroplasia, Hypochondroplasia, Dwarfism, Fibroblast growth factor receptor-3.Introduction: Achondroplasia (ACH) and hypochondroplasia (HCH) are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases characterized by a rhizomelic shortening of the limbs, genu varum, trident hands, large head with frontal bossing and hypoplasia of the mid-face. Both ACH and HCH are caused by mi...

Introduction: The French Reference Centre PRADORT set up a national Access® database in 2005 for children diagnosed with Prader-Willi Syndrome (PWS). The medical, socio-demographic and family data of 813 patients were then collected.Method: We aim to analyse the evolution of diagnosis and care over time, according to the birth year of patients by comparing 3 groups (patients born between 2005 to 2009, 2010 to 2014 an...

Background: Children who were born small for gestational age (SGA) or with intrauterine growth restriction (IUGR) have increased risk of metabolic disorders such as insulin resistance, diabetes mellitus type 2 and coronary disease in adultness. Most of those children after catch-up growth achieve the same growth as their peers. Nevertheless 10 % of them persist finally short as adults. In the last decade some countries introduced the rhGH treatment to impr...

Background: Chronic kidney disease (CKD) was defined by structural or functional renal abnormalities, or an estimated glomerular filtration rate (GFR) of less than 60 mL/min per 1.73 m2. A child with CKD may develop many complications such as: anemia, poor growth and nutrition, bone and mineral disorders, cardiovascular complications, and complications of hemodialysis, and peritoneal dialysis.Aim: Assessment of severity ...

Calcium and phosphorus represent the main building material for bone and growth plate mineralization and bone stiffness. The supplier of these bone minerals is the hormone calcitriol, which originates from vitamin D, itself made by sunshine in human skin. Requirement for bone mineral supply is highest during phases of rapid growth, such as during pregnancy, infancy and puberty. The body can be deprived of calcium either through low dietary calcium intake and/or low vitamin D. ...

Introduction: Hypoglycemia is a common problem in neonatal period associated with adverse neurological outcome and brain injury if treatment was not provided. AAP and PES recommended screening for hypoglycemia only in newborns with risk factors but many others neonates may present episodes of asymptomatic hypoglycemia without any known risk factor.Objectives: To assess the incidence of hypoglycemia in healthy full term neonates without any risk factors i...

Background: The influence of GH on prepubertal children with Kabuki Syndrome (KS) is a novel field of research. KS is a congenital anomaly/intellectual disability syndrome caused by a mutation in the KMT2D or KDM6A gene. These mutation causes distinct phenotypically features, such as short stature and facial dysmorphology. Earlier studies describe a high incidence of obesity in children with KS.Aims and objectives: In this prospective s...

Background: DAVID syndrome (deficit in anterior pituitary function and variable immune deficiency) (J Clin Endocrinol Metab 97 E121, 2012) can be caused by NFKB2 mutations (Am J Hum Genet 93 13, 2013). All patients have an orthotopic posterior pituitary (PP) and most only ACTH deficiency.Objective and Hypothesis: To describe a girl with common variable immunodeficiency (CVID), ectopic PP (EPP) ...

Background: Exercise performance is dependent on glucose supply as fuel to working muscles.Objective and hypotheses: We hypothesised that postprandial insulin secretion impacts exercise induced glucose and insulin response.Method: 27 sedentary obese adolescent males aged 15.31+1.33 were examined. Standard 2 h oral glucose tolerance test (OGTT) with further calculation AUC for glucose and insulin for increments: 0–30 m...

Background: Congenital hyperinsulinism (CHI) is a chronic and complex rare endocrinopathy with dysregulated insulin secretion causing severe and recurrent hypoglycemia resulting in adverse neurologic and developmental sequelae in children. Current treatment options are limited and often inadequate to treat CHI. Dasiglucagon (DASI), a glucagon analog administered by subcutaneous continuous infusion, has demonstrated reduction in glucose infusion rate (GIR) in P...