ESPE Abstracts

Background: Paediatric growth hormone deficiency (PGHD) is treated with daily somatropin (recombinant human growth hormone) injections. High rates of discontinuation and poor adherence to treatment, which are associated with worse growth outcomes, have been documented previously, for example in the US and EU. Discontinuation of somatropin has not yet been evaluated using real-world data in Japan.Objectives: To describe d...

Introduction: The incidence of idiopathic nephrotic syndrome (NS) is 1.5~16.9 per 100,000 children. The cause remains unknown but the pathogenesis of idiopathic NS is thought to involve immune dysregulation, systemic circulating factors, or inherited structural abnormalities of the podocyte. NS is characterized by the triad of proteinuria, hypoalbuminemia, and edema. There can be an antecedent infection, typically of the upper respiratory tract. Moreover,...

Background: Childhood period is associated with growth accompanied by rapid change of body composition. Excessive fat gain and followed increased insulin resistance is an obstacle in controlling blood sugar for type 1 diabetic patients.Objective and hypotheses: This study was designed to understand the gender difference in the patterns of body composition change along the growth process of newly diagnosed type I diabetic children and adolescents.<p c...

Background: The use of GnRHa in central precocious puberty is known to slow puberty progression, subsequently prevent early menarche, and attenuate the height loss by advanced skeletal maturation. But enhancing the final height was so controversial that an additional approach has been used.Objective and hypotheses: To investigate the age of menarche, and the height outcomes in central precocious girls treated with GnRHa (n=61) or combined GH (<e...

Thiamine-Responsive Megaloblastic Anaemia (TRMA) is a rare autosomal recessive disorder emerging due to mutation in the thiamine transporter 1 gene. It presents with sensorineural hearing loss, non-immune diabetes mellitus and megaloblastic anaemia. Ocular manifestations of TRMA described so far include optic atrophy and cone-rod retinal dystrophy. This paper presents a case report of a British-Pakistani adolescent boy unexpectedly diagnosed with bilateral severe proliferative...

Background: There is a link between congenital hypothyroidism (CH) and neurodevelopmental abnormalities, but no longitudinal studies have yet identified reliable quantifiable measures.Purpose: To evaluate associations between CH and abnormalities in neurodevelopment and growth, and identify the timing of these abnormalities and the best time for intervention.Methods: Data from the ...

Objective: To investigate whether the early-life overweight/obesity trajectory from ages 2, 4, to 8 affects insulin resistance (IR) in 8-year-old prepubertal children.Methods: From the Environment and Development of Children (EDC) cohort, 262 prepubertal children (147 boys and 115 girls) who visited Seoul National University Children’s Hospital for anthropometric measurements at ages 2, 4 and 8 were included. At ag...

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...

Background and Purpose: The prevalence of non-alcoholic fatty liver disease (NAFLD) in children has been increasing associated with insulin resistance. However, there is a scarcity of related studies in children with NAFLD with type 2 diabetes mellitus (T2DM) compared to adults. We conducted this study to investigate the association between non-invasive diagnostic methods of liver fibrosis and T2DM in pediatric patients with NAFLD.<stron...

Background: Congenital hypothyroidism is the most common neonatal metabolic disorder and detected at a rate of 1 in 3000 to 4000 live births. Compared to congenital hypothyroidism caused by defects in thyroid development leading to thyroid dysgenesis, thyroid dyshormonogenesis has tendency to be detected at older age and its clinical manifestations are individually different. Thus, to evaluate exact causes and predict clinical course for congenital thyroid dys...