ESPE Abstracts

Introduction: Children with hypothalamic dysfunction, e.g. due to a genetic or acquired cause such as suprasellar tumours, often suffer from hyperphagia and/or decreased resting energy expenditure (REE). This process induces uncontrollable weight gain, resulting in severe hypothalamic obesity (HO). No effective treatment is available yet for HO. Amphetamines are psychostimulants that are known for their appetite reducing and REE stimulating side effects. Here,...

Background: Epidemiological studies have shown associations between placental weight (PW) and perinatal and postnatal linear growth and weight gain.Objectives: To report trimmed placental weight (PWT) and evaluate their association with birth weight (BWT), and gestational age (GA) in a large cohort of mother/ baby pairs in Qatar. (n= 80722).Methods: Retrospective data anal...

Background: We investigated the relationship of birth anthropometry with cord blood insulin-like growth factor 1 (IGF-1) and leptin levels in Korean infants born at ≥28 weeks' gestation.Methods: One hundred five appropriate-for-gestational-age (AGA) infants, defined as infants with birth weights (BWs) between the 10th and 90th percentiles for gestational age, were enrolled. Enrolled infants were stratified into...

Introduction: Small size at birth is only a proxy for the pathological process of intrauterine growth restriction.Aim: To study the effect of different birth weights on postnatal growth.Method: We studied the linear growth of 59 infants who were born preterm (GA = 33.5 +/- 2.2 weeks) with birth weight >1.5 < 2.5 kg) for two years. They were classified at birth into two groups...

Background: Congenital panhypopituitarism is associated with a variety of gene mutations. Abnormalities in the Gli2 gene were only recently described to be associated with congenital panhypopituitarism (Franca et al. 2010). Gli2 is a gene that encodes a transcription factor downstream of the Sonic Hedgehog pathway – known to play an important role in morphogenesis during embryology.Objective and hypotheses: Although Gli2 mutations were described to ...

Background: Rapid BMI increase in early childhood was found to be a contributing factor for impaired final height in boys with Cystic Fibrosis (CF). This may be explained by early adrenarche triggering an accelerated bone maturation resulting in a compromised growth spurt during puberty, comparable to children with SGA. In healthy Dutch boys, adrenarche starts from the age of 9 years with DHEAS ≥ 1 µmol/L. In Dutch girls, the onset of adrenarche is fr...

Background: Spinal Muscular Atrophy (SMA) is characterised by progressive muscle weakness, resulting from loss of anterior horn cells in the spinal cord and the brain stem nuclei. Survival motor neuron levels (SMN) are reduced due to mutations in the SMN1 gene. SMN function has been implicated in poor bone health. SMA is classified according to age of onset and clinical course accordingly: type 0 (prenatal), type 1 (onset <6 months, severe, never sit unsupported), type 2 (...

Background: Adults with CF show a higher rate of osteoporosis compared to healthy adults. Achieving proper bone mass is a process starting in childhood. We aimed to evaluate the prevalence of decreased bone mineral density (BMD), changes during puberty and risk factors for low BMD in children and adolescences with CF in a large Dutch cohort.Patients and methods: A retrospective observational cohort study was performed in...

Background & Aims: Although, there has been reports demonstrating association between adult-onset hypopituitarism and development of nonalcoholic fatty liver disease (NAFLD), studies are lacking regarding the development of NAFLD in children and young adult with childhood-onset hypopituitarism. We aimed to identify association between NAFLD and hypopituitarism in these patients.Methods: 76 Korean children and young a...

Background: Congenital adrenal hyperplasia (CAH), mostly caused by 21-hydroxylase deficiency, is autosomal recessive disorder characterized by impaired cortisol synthesis. It can be presented with a combination of aldosterone and cortisol deficiency and androgen excess. Therefore, excess production of androgen and glucocorticoid replacement can result to early bone maturation and ultimately diminished adult height (AH).Objectives...