hrp0097p2-2 | Multisystem Endocrine Disorders | ESPE2023

Genetic test is useful in diagnosing nephrogenic diabetes insipidus.

Ujita Nagisa , Igarashi Mizuho , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

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...

hrp0095p1-393 | Thyroid | ESPE2022

Urinary Iodine Concentration and Thyroid Function in Children by Age

Igarashi Mizuho , Kashima Takemoto , Hibiki Doi , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

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...

hrp0097p1-272 | Fat, Metabolism and Obesity | ESPE2023

Various clinical manifestations found in 3 cases with Progeria syndrome

Igarashi Mizuho , Ota Tomoko , Doi Hibiki , Kashima Takemoto , Kosaki Rika , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

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 ...

hrp0097lb3 | Late Breaking | ESPE2023

Congenital Hyperinsulinism due to ABCC8/KCNJ11 mutations and the long-term outcome - a single center experience

Noordin Mazidah , Miyagi Hajime , Igarashi Mizuho , Kashima Takemoto , Fujioka Akiko , Ujita Nagisa , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

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...