ESPE Abstracts

Background: Haematopoietic stem cell transplantation (HSCT) is a risk factor for young adult onset diabetes mellitus (DM) and hyperlipidaemia (HL) as late effects, especially the use of total-body irradiation (TBI). In order to investigate the clinical details, we retrospectively analysed the post-HSCT patients in our institution that required treatment for DM and/or HL.Results: From 1983 to 2012, 24 children received HSCT in our hospital because of haem...

Introduction: We previously reported that miglitol, an alpha-glucosidase inhibitor (α-GI), increases energy expenditure by enhancing β3-adrenergic signaling of brown adipose tissue (BAT) and reduces obesity in dietary-induced obese mice (S Sugimoto et al, at the 9th joint meeting of Pediatric Endocrinology, 2013) (Nutrition & Metabolism). However, this report did not describe the mechanism by which miglitol enhances β3-adrenergic signaling....

Background: Recently, ghrelin has attracted attention as a hormone connected with appetite. The relationship between ghrelin genetic polymorphisms and obesity has been analyzed in adults, but the influence of these SNPs on obesity in children is uncertain.Objective: We perform SNP analysis of the ghrelin gene and examine its relationship with the childhood obesity.Population: We analyzed 35 patients (27 boys, eight girls) treated i...

Background: Loss of function mutations in KISS1R, which encodes kisspeptin receptor have been reported in very few patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).Objective and hypotheses: To describe the phenotype of the nIHH female patient with a novel homozygous KISS1R mutation and to characterize functionally this mutation. The patient was a 28 year-old Senegalese woman with primary amenorrhea. She was the seco...

Background: Perrault syndrome is a rare autosomal recessive disorder characterised by sensorineural hearing deafness in both sexes and primary ovarian failure in 46, XX karyotype females. HSD17B4, HARS2, LARS2, CLPP and C10orf2, which associated mitochondrial function, are reported as causative genes.Objective and hypotheses: Here we reported on a Japanese patient who identified C10orf2 mutation with the fourth patient in Perrault syndr...

Background: The intelligence prognosis of congenital hypothyroidism (CH) is remarkably improved by early detection and optimal levothyroxine (LT4) treatment. Some groups have reported that initial LT4 overtreatment results in a subsequent decrease of cognitive function. In universal guidelines, an initial dose of 10–15 μg/kg per day of LT4 is recommended. However, there are cases of LT4 overdosing.Obj...

Background: LDL cholesterol (LDL-C) levels can be high in familial hypercholesterolemia or other dyslipidemia, and the elevated levels are often found in the pediatric setting.Objective: To create a pediatric reference using data of a prospective birth cohort study at our hospital (Seiiku Cohort for Children and Mothers) and to examine its association with possible predisposing factors.Resu...

Background: Congenital nephrogenic diabetes insipidus is a rare disease that is sometimes diagnosed after failure to thrive or febrile illness during infancy. Long-term habitual polydipsia to compensate for polyuria is sometimes difficult to distinguish from habitual polydipsia and polyuria or compulsive drinking.Case: The case is a 10-year-old girl. Her father was diagnosed as having congenital nephrogenic diabetes insi...

Background, aims and objectives: We hypothesized that classical brown adipose tissue (cBAT) could play a crucial role in the anti-obesity effects of erythropoietin (EPO). Our study highlights the mechanism in which EPO treatments could upregulate energy expenditure and improve glucose homeostasis through cBAT in obese mice fed with a high-fat diet (HFD).Method: C57BL/6J mice had been fed with HFD since the age of 4 weeks (HFD mice). We administered recom...

Background: There are few reports on age-related differences in urinary iodine concentrations, which reflect iodine intake.Objective: We investigated the relationship between age-related differences in urinary iodine concentration and thyroid function.Methods: The subjects were 749 children aged 1 year, 677 children aged 3 years (excluding 2 children aged 3 years whose urinary iodi...