ESPE Abstracts

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: 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...

Background: Progeria syndromes caused by LMNA gene variants consist of Hutchinson-Gilford progeria syndrome (HGPS) and Atypical progeroid syndrome (APS). Various phenotypes of APS are previously reported, whereas HGPS shows relatively unique phenotype.Objective: To investigate the spectrum of clinical manifestations in three cases of Progeria syndrome.Methods: The history ...

Hyperinsulinism is a common cause of persistent hypoglycemia beyond infancy. Mutations in the ABCC8/KCNJ11 genes are the most common aetiology of congenital hyperinsulinism (CHI), leading to KATP channel mutation. This results in an inappropriate insulin secretion irrespective of hypoglycaemia. This is a cross-sectional study of the patients attending the paediatric endocrinology unit at the National Centre for Child Health & Development (NCCHD), Tokyo, Japan from March 20...

Background: Adrenal tumour in childhood is relatively rare, and its clinical features are variable depending on hormonal profiles. Pigmented primary nodular adrenocortical disease (PPNAD) and adrenal carcinoma may present with clinical signs of precocious puberty due to increased adrenal androgen secretion in addition to glucocorticoids. [Case] 12-year-old boy. Obesity and short stature were noted on school health check-up a year ago. The endocrinological work...