hrp0098p1-275 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

Endocrine Deficiency after Photon and Proton Radiotherapy for Medulloblastoma in Hokkaido University Hospital, Japan.

Kaneko Naoya , Hishimura Nozomi , Morikawa Syuntaro , Terashita Yukayo , Hirabayashi Shinsuke , Cho Yuko , Hashimoto Takayuki , Yamaguchi Shigeru , Manabe Atsushi

Background: Medulloblastoma accounts for about 10% of pediatric brain tumor, and about 60 to 100 cases occur in Japan per year. After tumor removal, chemotherapy and radiation therapy including craniospinal irradiation (CSI) are performed. Since the irradiation range of CSI includes hypothalamus, pituitary gland, thyroid, ovaries, and spine, it is known that endocrine deficiency and growth disorders are frequent as late effects. In this study, we aim to highli...

hrp0082p1-d2-73 | Diabetes (1) | ESPE2014

A Novel Mutation of wfs1 Gene in a Japanese Infant of Diabetes Mellitus, Deafness, and Congenital Cataract

Morikawa Shuntaro , Nakamura Akie , Ishizu Katsura , Kumaki Satoru , Tajima Toshihiro

Introduction: Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by the association of early-onset, insulin-dependent diabetes mellitus (DM), diabetes insipidus, deafness, and progressive optic atrophy. The disease is caused by mutations of wfs1 located on 4p16 encoding peptide that is called wolframin. Wolframin is a component of the endoplasmic reticulum (ER) membrane. It is considered that mutant Wolframin might cause increased misfolded and...

hrp0084p2-296 | Diabetes | ESPE2015

Children Born from Mother with Gestational Diabetes Mellitus are at Higher Risk in Metabolic Syndrome

Horikawa Reiko , Arata Naoko , Naiki Yasuhiro

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...

hrp0098p2-70 | Diabetes and Insulin | ESPE2024

Efficacy of Advanced Hybrid Closed-Loop System Medtronic MiniMed™ 780G in Japanese children with type 1 diabetes mellitus (T1DM)

Ujita Nagisa , Yamada Mihoko , Horikawa Reiko

Background: MiniMed™ 780G was launched in Japan in November 2023 and is expected to further improve glycemic control.Objectives and Methods: 】Subjects of this study were 29 patients with T1DM, aged 2-18 years (average 8.8 years old), who have been treated by SAP using MiniMed™ 770G for at least 3 months prior to switching to 780G smart guard system. We divided subjects into 2 groups by HbA1c levels ove...

hrp0094p2-280 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status

AL Jorge Alexander , Pietropoli Alberto , Kelepouris Nicky , Horikawa Reiko ,

Objectives: Mutations in PTPN11 are known to be associated with Noonan syndrome (NS), accounting for approximately 50% of cases. Data from a non-interventional and phase 3 study of Norditropin (somatropin; Novo Nordisk A/S, Denmark) were used to assess the impact of PTPN11 mutation status on growth outcomes in children with NS receiving growth hormone therapy (GHT).Methods: The ANSWER (NCT01009905) prog...

hrp0097p1-271 | Fat, Metabolism and Obesity | ESPE2023

Investigation of LDL Cholesterol in Children from Seiiku Cohort for Children and Mothers

Doi Hibiki , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

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...

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...

hrp0095p2-59 | Diabetes and Insulin | ESPE2022

First case of Diabetes Mellitus Caused by compound heterozygous changes in the WFS1 and PTF1A Genes from Kazakhstan

Aralbayeva Dariga , Bolatbek Kassiyet , Berikkan Aigerim , Ten Svetlana , Bhangoo Amrit , Nurbekova Akmaral

Background: We report the first case of Wolfram syndrome with heterozygous polymorphisms of WFS1 and PTF1A genes.Case description: 16 years-old girl presented with diabetes mellitus at 12 years of age with HbA1c of 8.4 %. The IA-2, Islet cell, Insulin antibodies (Ab) were negative. GAD Ab were positive 26 U/ml (nl< 4). C-peptide level was normal 1.33 ng/ml (1.1-4.4 ng/ml) even after 4 years of diagnosis. She was initi...

hrp0095p1-108 | Growth and Syndromes | ESPE2022

Efficacy, Observer-Reported Outcomes, and Safety of Once-Weekly Somapacitan in Children with Growth Hormone Deficiency (GHD): 4-Year Results from the REAL 3 Trial

Sävendahl Lars , Battelino Tadej , Højby Rasmussen Michael , Brod Meryl , Wai Lee Kai , Saenger Paul , Horikawa Reiko

Children with GHD are currently treated with daily subcutaneous growth hormone (GH) injections, which can be burdensome. Somapacitan is a long-acting GH derivative in development for once-weekly use in children with GHD. REAL 3 (NCT02616562) is a phase 2, multinational, randomised, open label, controlled trial assessing efficacy and safety of somapacitan vs daily GH (Norditropin®). Prepubertal, GH-naïve children with GHD received 0.04 (n=16), 0.08 (n</e...

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...