hrp0086rfc12.2 | Neuroendocrinology | ESPE2016

A Novel Mutation of KISS1R Causing a Normosmic Isolated Hypogonadotropic Hypogonadism

Yoshii Keisuke , Hugon-Rodin Justine , Gompel Anne , de Roux Nicolas

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...

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...

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...

hrp0092p1-406 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Tolvaptan for Management of Intractable Salt and Water Imbalance in a Case with Suprasellar Tumor after Surgery

Yamaguchi Tomoe , Terashita Shintaro , Kinjo Kenichi , Fujisawa Yusuke , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

Background: It is sometimes difficult to diagnose and manage fluid and electrolyte imbalance after surgery for hypothalamic/pituitary tumors. We present a pediatric case of severe SIADH successfully treated with tolvaptan after suprasellar tumor resection.Case: The case was 8-year-old girl with growth failure. She was found to have suprasellar tumor on CT scan when she accidentally fell down and hit her head. MRI suggest...

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 ...

hrp0089p3-p409 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Novel Gene Mutation and Atypical Clinical Phenotype of Kallmann Syndrome

Yumiko Terada , Fujisawa Yusuke , Chiba Yuta , Kinjo Kenichi , Tsukamura Atsushi , Yamaguchi Tomoe , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

Case: The case is a 19-year-old woman. Her chief complaint is primary amenorrhea. She was born at 40 weeks of gestational age. Birth weight was 2456 g and birth height was 47 cm and she was admitted to the hospital due to abnormality of facial formation, post-nasal cavity closure and respiratory disorders. Her motor development was delayed (standing at 3 years old, walking at 5 years old) and she underwent plastic surgery for 6 times. On admission her height was 151.6 cm (&#87...

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...