ESPE Abstracts

Object: IGF2 is a paternally expressed gene involved in the development of Silver-Russell syndrome (SRS). Here, we report six Japanese patients with IGF2 mutations and compare clinical findings between patients with IGF2 mutations including literature cases and those with H19/IGF2:IG-DMR epimutations.Patients: We recruited six Japanese patients with IGF2 mutations. Th...

Background: The metabolic outcome in adult life is known to be determined during fetal life. Prenatal poor nutrition also affects growth and maturation, formation of insulin resistance during childhood. Little is known about the effect of maternal gestational diabetes mellitus (GDM) on early metabolic and growth outcome of their children.Objective and hypotheses: To investigate growth, glucose metabolism, and blood pressure in children of mothers with GD...

Background: Congenital hyperinsulinaemic hypoglycaemia (CHI) can cause various degrees of hypoglycaemia in infancy. In mild CHI, unnoticeable recurrent hypoglycaemia may cause deterioration of central neurological functions in patients. We report a case of mild CHI that presented with developmental delay without any previous hypoglycaemic events.Case presentation: An 18-month-old Japanese girl was admitted to our hospital with seizures and unconsciousnes...

Background: For many years, raising awareness on early referral to endocrinologist, early diagnosis, and treatment continuation for paediatric patients with growth hormone deficiency (GHD) has been continued in Japan. However, the current status of trends in age at diagnosis and of treatment continuation have not been fully clarified.Aim: The aim of this study is to estimate the persistence to growth hormone treatment (G...

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...

Previous studies have shown that poor adherence to recombinant human growth hormone (r-hGH; Saizen®) therapy is associated with decreased efficacy outcomes and increased healthcare costs. Easypod™ is the only electronic injection device that enables continuous monitoring of adherence to treatment. Early recognition of non-adherence is essential in the management of long-term outcomes of r-hGH therapy. This analysis aimed to evaluate adherence to r-hGH therapy adminis...

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: Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by the overexpression of CYP19A1 at 15q21. Patients with AEXS manifest various clinical features associated with oestrogen excess; gynecomastia, hypogonadotropic hypogonadism, and advanced bone age are the most salient features in this condition.Objective and hypotheses: The primordial treatment of the gynecomastia in patients with AEXS is surgical mastecto...

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...