戻る第57回日本小児内分泌学会学術集会

セッション情報

セッション

English Oral Session 2

Clinical Case Report

第4会場3F G304

2024年10月11日 14:20 - 15:00

座長

座長）田島敏広
（自治医科大学とちぎ子ども医療センター小児科）
Toshihiro Tajima
（Department of Pediatrics, Jichi Medical University Tochigi Childrens’ Medical Center）

座長）本田美紗
（東京歯科大学市川総合病院小児科）
Misa Honda
（Department of Pediatrics, Tokyo Dental University General Hospital）

演題

EO2-1
Novel GNAS variant in two pediatric patients with pseudohypoparathyroidism-related disease
Mika Dofuku （Dept. of Pediatr., Jichi Univ. Sch. of Med.,）
Mika Dofuku （Dept. of Pediatr., Jichi Univ. Sch. of Med.,）
Maho Asai （Dept. of Pediatr., Jichi Univ. Sch. of Med.,）
Maho Asai （Dept. of Pediatr., Jichi Univ. Sch. of Med.,）
Fuminori Yamamoto （Dept. of Dermatol., Japan Red Cross Medical Center）
Fuminori Yamamoto （Dept. of Dermatol., Japan Red Cross Medical Center）
Sachie Nakamura （Dept. of Pediatr., Jichi Univ. Sch. of Med.,）
Sachie Nakamura （Dept. of Pediatr., Jichi Univ. Sch. of Med.,）
Toshihiro Tajima （Dept. of Pediatr., Jichi Univ. Sch. of Med.,）
Toshihiro Tajima （Dept. of Pediatr., Jichi Univ. Sch. of Med.,）

EO2-2
Early diagnosed Diffuse Sclerosing Variant Papillary Thyroid Carcinoma (DSVPTC);11-year-old girl with characteristic ultrasonography
Nao Takizaki （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Nao Takizaki （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Takeshi Uehara （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Takeshi Uehara （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Toshinaru Fukae （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Toshinaru Fukae （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Naomi Hatabu （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Naomi Hatabu （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Masako Izawa （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Masako Izawa （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Junko Hanakawa （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Junko Hanakawa （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Mio Tanaka （Dept. of Pathology Diagnosis, Kanagawa Children’s Medical Centre）
Mio Tanaka （Dept. of Pathology Diagnosis, Kanagawa Children’s Medical Centre）
Norihiko Kitagawa （Dept. of Surgery, Kanagawa Children’s Medical Centre）
Norihiko Kitagawa （Dept. of Surgery, Kanagawa Children’s Medical Centre）
Masahide Nakano （Thyroid Centre, Showa University Northern Yokohama Hospital）
Masahide Nakano （Thyroid Centre, Showa University Northern Yokohama Hospital）
Koji Muroya （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）
Koji Muroya （Dept. of Endocrinology and Metabolism, Kanagawa Children’s Medical Centre）

EO2-3
46,XY individual with disorder of sex development (DSD) associated with a novel PPP1R12A variant
Yoko Saito （Div. of Med. Genet., Kanagawa Children's Medical Center,）
Yoko Saito （Div. of Med. Genet., Kanagawa Children's Medical Center,）
Takeshi Uehara （Dept. of Endo. and Metab., Kanagawa Children's Medical Center,）
Takeshi Uehara （Dept. of Endo. and Metab., Kanagawa Children's Medical Center,）
Yukiko Kuroda （Div. of Med. Genet., Kanagawa Children's Medical Center,）
Yukiko Kuroda （Div. of Med. Genet., Kanagawa Children's Medical Center,）
Yumi Enomoto （Clin. Research Institute, Kanagawa Children's Medical Center）
Yumi Enomoto （Clin. Research Institute, Kanagawa Children's Medical Center）
Takuya Naruto （Clin. Research Institute, Kanagawa Children's Medical Center）
Takuya Naruto （Clin. Research Institute, Kanagawa Children's Medical Center）
Naomi Hatabu （Dept. of Endo. and Metab., Kanagawa Children's Medical Center,）
Naomi Hatabu （Dept. of Endo. and Metab., Kanagawa Children's Medical Center,）
Junko Hanakawa （Dept. of Endo. and Metab., Kanagawa Children's Medical Center,）
Junko Hanakawa （Dept. of Endo. and Metab., Kanagawa Children's Medical Center,）
Kenji Kurosawa （Div. of Med. Genet., Kanagawa Children's Medical Center,, Clin. Research Institute, Kanagawa Children's Medical Center）
Kenji Kurosawa （Div. of Med. Genet., Kanagawa Children's Medical Center,, Clin. Research Institute, Kanagawa Children's Medical Center）
Koji Muroya （Dept. of Endo. and Metab., Kanagawa Children's Medical Center,）
Koji Muroya （Dept. of Endo. and Metab., Kanagawa Children's Medical Center,）

EO2-4
A case of X;2 translocation: a mild phenotype possibly associated with X chromosome inactivation spreading to the translocated autosomal region
Atsushi Hattori （Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Dev., Div. of Divers. Res., Natl. Res. Inst. for Child Health and Dev.）
Atsushi Hattori （Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Dev., Div. of Divers. Res., Natl. Res. Inst. for Child Health and Dev.）
Naoya Morisada （Dept. of Clin. Genet., Kobe Children’s Hosp.）
Naoya Morisada （Dept. of Clin. Genet., Kobe Children’s Hosp.）
Yasuko Ogiwara （Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Dev.）
Yasuko Ogiwara （Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Dev.）
Kayo Ozaki （Dept. of Endocrinol. and Metab., Kobe Children's Hosp.）
Kayo Ozaki （Dept. of Endocrinol. and Metab., Kobe Children's Hosp.）
Kiiko Iketani （Dept. of Endocrinol. and Metab., Kobe Children's Hosp.）
Kiiko Iketani （Dept. of Endocrinol. and Metab., Kobe Children's Hosp.）
Masayo Kagami （Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Dev.）
Masayo Kagami （Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Dev.）
Maki Fukami （Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Dev., Div. of Divers. Res., Natl. Res. Inst. for Child Health and Dev.）
Maki Fukami （Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Dev., Div. of Divers. Res., Natl. Res. Inst. for Child Health and Dev.）