Invited Plenary Lecture
September, 27(Fri.) 13:00 ～ 13:50 Room 1
Chair		 Tohru Yorifuji（Division of Pediatric Endocrinology and Metabolism, Children’s MedicalCenter, Osaka City General Hospital）
Congenital Hyperinsulinism: Past, Present, and FutureCharles A. Stanley, MD
The Hyperinsulinism Center, Children’s Hospital of Philadelphia, University of Pennsylvania
Perelman School of Medicine
KSPE-JSPE Plenary Lecture
September, 28(Sat.) 10:20 ～ 11:10 Room 1
Chair		Tatsuhiko Urakami（Department of Pediatrics and Child Health, Nihon Uiniversity School ofMedicine）	Current central precocious puberty management in Korea, challenges andlong-term outcomes
Young-Jun Rhie
Korea University College of Medicine, Seoul, Korea
Symposium 5 Updates in epigenetics：from rare to common disorders.
September, 27(Fri.) 16:20 ～ 17:40 Room 4Chairs		 Tsutomu Ogata（Department of Pediatrics, Hamamatsu University School of Medicine）
Masanori Minagawa（Department of endocrinology, Chiba children's hospital）
S5-1

New imprinting disorders
Masayo Kagami
Dept. of Mol Endocrinol., National Research Institute for Child Health and Development
S5-2	Molecular mechanism of epigenome memory in early life and its impact onhealth and disease conditions in later life
Yoshihiro Ogawa
Dept. of Med. & Bioregul. Sci., Grad. Sch. Med. Sci., Kyushu Univ.
S5-3	Epigenetic modification induced by environment in utero and care of lowbirth weight infant
Hideoki Fukuoka

Dept. of Progressive DOHaD Research , Fukushima Medical University
Meet the Expert

September, 27(Fri.) 8:20 ～ 9:20 Room 4
ME4
How can we address the etiology of primary adrenal insufficiency?
Naoko Amano1,2, Misa Honda11Dept. of Pediatr., Keio Univ. Sch. of Med., 2Dept. of Pediatr., Saitama City Hosp.

― 80 ―

Luncheon Educational Seminar 8
September, 27(Fri.) 12:00 ～ 12:50 Room 4
Reiko Horikawa（Division of Endocrinology and Metabolism, National Center for Child Healthand Development）

LS-8

Early life adversity and later life disease - the importance of choosing yourparents carefully
Paul L Hofman
Liggins Institute, University of Auckland
English Oral session 1

September, 27(Fri.) 9:30 ～ 10:30 Room 4
Chairs		Kenji Ihara（Department of Pediatrics, Oita University School of Medicine）
Maki Fukami（Department of Molecular Endocrinology, National Research Institute for Child
Health Development）

EO1-1

C-type natriuretic peptide analogue therapy in children with achondroplasia
Jonathan Day1, Ravi Savarirayan2, Melita Irving3, Carlos Bacino4, Bret Bostwick4,Joel Charrow5, Valerie Cormier-Daire6, Kim Hanh Le Quan Sang6, Patricia Dickson7,
Paul Harmatz8, John Phillips9, Natalie Owen9, Anu Cherukuri10, Kala Jayaram10, George Jeha10,
Kevin Larimore10, Daniel Chan10, Alice Labed1, Julie Hoover-Fong11
1BioMarin Europe Ltd., London, UK,2
Murdoch Children's Research Institute, Parkville, Victoria, Australia,
3
Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK,
4Baylor College of Medicine, Houston, TX, USA,
5Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA,6
Medical Genetics Department, Universite Paris Descartes-Sorbonne Paris Cite, INSERM
UMR, Paris, France,7
Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance,CA, USA,
8
UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA,
9Vanderbilt University Medical Center, Nashville, TN, USA,
10BioMarin Pharmaceutical Inc., Novato, CA, USA,
11Johns Hopkins University School of Medicine, Baltimore, MD, USA
EO1-2	‌Germline-derived gain-of-function variants of Gs α -coding GNAS gene
identified in nephrogenic syndrome of inappropriate antidiuresis: the firstreport
Mami Miyado1, Fukami Maki1, Matsubara Yoichi2, Tanaka Yoko3, Sasaki Goro3,Nagasaki Keisuke4, Masunaga Yohei5, Saitsu Hirotomo6, Ogata Tsutomu1,51
Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Dev.,
2
Head Office, Natl. Res. Inst. for Child Health and Dev.,
3
Dept. of Pediatr., Tokyo Dent. Coll. Ichikawa General Hosp.,
4
Dept. of Homeo. Regul. and Dev., Niigata Univ. Grad. Sch. of Med. and Dent. Sci.,
5
Dept. of Pediatr., Hamamatsu Univ. Sch. of Med.,
6
Dept. of Biochem., Hamamatsu Univ. Sch. of Med.

― 81 ―

Information andProgram in EnglishChair		EO1-3	‌MYRF is a novel causative gene for 46,XX and 46,XY disorders of sex
development
Tsutomu Ogata1, Kohei Hamanaka2, Atsushi Takata2, Yuka Wada3, Sawako Minami4,
Yuko Katoh-Fukui5, Yohei Masunaga1, Maki Fukami5 Tomonobu Hasegawa6,Naomichi Matsumoto2
1
Dept. of Pediatr., Hamamatsu Univ. Sch. of Med.,
2
Dept. of Hum Genet, Yokohama City Univ. Graduate Sch. of Medicine,3
Dept. of Neonatol, Natl. Center for Child Health and Dev.,
4
Dept. of Obstet. Gynecol., Wakayama Med. Univ. Sch. Of Med.,
5
Dept. of Mol. Endocrinol. Natl. Res Inst. for Child Health and Dev.,
6
Dept. of Pediatr., Keio Univ. Sch. of Med.
EO1-4	‌Uterine environment regulates nurturing behavior in the offspring withprolactin as a key factor
Taku Sairenji1,2, Shinnosuke Masuda1, Kwan Ee Oh1, Yoshiaki Ohtsu2, Hirokazu Arakawa2,Noriaki Shimokawa1,3, Noriyuki Koibuchi1
1
Dept Intgr Physiol, Gunma Univ, Med Grad Sch,2
Dept of Pediatr. Gunma Univ, Med Grad Sch, 3Dept Nutr, Takasaki Univ Health Welf
EO1-5	‌SHOX far-downstream copy-number variations involving cis-regulatory
nucleotide variants in two sisters with Leri-Weill dyschondrosteosis
Kenichiro Ogushi1,2, Hirohito Shima1, Tomoko Jinno1, Mami Miyado1, Maki Fukami1,Koji Muroya3
1
Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Dev.,
2
Dept. of Pediatr., St. Marianna Univ. Sch. of Med.,
3
Dept. of Endocrinol. and Metabol., Kanagawa Children's Med. Cent.
EO1-6	‌The evaluation of pancreatic bata-cell secretory function in children withurine glucose positive in urinalysis screening at school : the utility of oral
Disposition Index
Aoi Taku1, Yukiyo Yamamoto1,2, Shimamoto Taro1, Tomomi Ikegami1, Mami Kuwamura1,
Reiko Saito1, Motohide Goto1, Kazuyasu Kubo1, Rinko Kawagoe1, Yasusada Kawada1,
Koichi Kusuhara1
1Dept. of Pediatr.,University of Occupational and Environmental Health, Japan,2
D irector of Medical Education, School of Medicine, University of Occupational andEnvironmental Health, Japan
English Oral session 2
September, 27(Fri.) 10:45 ～ 11:35 Room 4Chairs		 Sumito Dateki（Department of Pediatrics, Nagasaki University Graduate School of Biomedical			Sciences）
Yasuko Fujisawa（Department of Pediatrics, Hamamatsu University School of Medicine）
EO2-1

Modeling Congenital Hyperinsulinism with patient's specific iPS cells.
Shirou Matsumoto1, Kenichi Tanaka2, Masanori Iwai2, Fusa Nagamatsu1, Rieko Sakamoto1,Takaaki Sawada1, Hiroyo Mabe1, Fumio Endo1,3, Hiroshi Mitsubuchi2, Kimitoshi Nakamura1
1Dept. of Pediatr, Graduate Sch. of Med. Sci, Kumamoto University,
2
Division of Neonatology, Kumamoto University Hospital,
3
Kumamoto-Ezuko Medical Center for the Severely Disabled― 82 ―

― 83 ―

Information andProgram in English

EO2-2	Identification of a homozygous frameshift variant in RFLNA in a patient witha typical phenotype of spondylocarpotarsal synostosis syndrome
Hitomi Shimizu1,2, Satoshi Watanabe1, Akira Kinoshita2, Hiroyuki Mishima2, Gen Nishimura3,Hiroyuki Moriuchi1, Koh-ichiro Yoshiura2, Sumito Dateki1
1
Dept. of Pediatr., Nagasaki Univ. Grad. Sch. of Biomed. Sci.,
2Dept. of Hum. Genet., Nagasaki Univ. Grad. Sch. of Biomed. Sci.,
3
Intractable Dis. Ctr., Saitama Med. Univ. Hosp.
EO2-3	The mitophagy receptor Bcl-2-like protein 13 is essential for adipocyte
differentiation by regulating mitochondrial oxidative phosphorylation andapoptosis
Makoto Fujiwara1, Anyonya R. Guntur3, Clifford J. Rosen3, Keiichi Ozono1
1
Dept. of Pediatr., Osaka Univ. Graduate Sch. of Medicine,
2First Dept. of Oral and Maxillofacial Surgery, Osaka Univ. Graduate Sch. of Dentistry,
3Center for Clinical and Translational Research, Maine Medical Center Research InstituteEO2-4	Isolated TSH deficient form of central congenital hypothyroidism may exist
in a higher frequency than reported
Asako Tajima, Tomotaka Kono, Masahisa Tashiro, Haruhito Horita, Taro Sugai,
Hidetoshi Hagiwara, Shuichi Suzuki, Katsuya Aizu, Hiroshi Mochizuki
Div. of Metabolism and Endocrinology, Saitama Children's Medical Center
EO2-5	Clinical course of cytochrome P450 oxidoreductase deficiency in Japan: anationwide surveyShuichi Yatsuga1, Naoko Amano2, Akari Utsunomiya3, Hironori Kobayashi4, Kei Takazawa5,
Keisuke Nagasaki6, Akie Nakamura7, Satsuki Nishigaki8, Chikahiko Numakura9,Ikuma Fujiwara10, Kanshi Minamitani11, Tomonobu Hasegawa2, Toshihiro Tajima121
Dept. of Pediatr. and Chidl Health, Kurume Univ. Sch. of Med.,
2
Dept. of Pediatr., Keio Univ., 3Dept. of Pediatr., Hiroshima Univ.,
4
Dept. of Pediatr., Shimane Univ., 5Dept. of Pediatr., Tokyo Medical and Dental Univ.,
6
Dept. of Pediatr., Niigata Univ, 7Dept. of Pediatr., Hokkaido Univ,
8
Dept. of Pediatr., Osaka City Univ., 9Dept. of Pediatr., Yamagata Univ.,
10Dept. of Pediatr., Sendai City Hosp.,
11
Dept. of Pediatr., Teikyo University Chiba Medical Center,
12
Dept. of Pediatr., Jichi Medical Univ.

English Oral session 3
September, 27(Fri.) 15:10 ～ 16:00 Room 4
Chairs		 Kenichi Kashimada（Department of Pediatrics and Developmental Biology, Tokyo Medical			         and Dental University）
Akie Nakamura（Department of Pediatrics, Hokkaido University School of Medicine）
EO3-1	IGF2 Mutations: Report of Six Cases, Review of the Literature, andPhenotypic Comparison with H19-DMR Epimutations
Yohei Masunaga1, Takanobu Inoue2, Kaori Yamoto1, Yasuko Fujisawa1, Yasuhiro Sato3,
Yuki Kawashima-Sonoyama4, Yasuhisa Ohata5, Noriyuki Namba5,6, Maki Fukami2,Hirotomo Saitsu7, Masayo Kagami2, Tsutomu Ogata11Dept. of Pediatr., Hamamatsu Univ. Sch. of Med.,
2
Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Devel.,
3
Dept. of Pediatr., Teikyo Univ. Sch. of Med.,
4
Div. of Pediatr. and Perinatol., Faculty of Med. Tottori Univ.,
5
Dept. of Pediatr., Osaka Univ. Grad. Sch. of Med.,
6
Dept. of Pediatr., Osaka Hosp., Japan Com. Healthcare Org.（JCHO）,
7
Dept. of Biochem., Hamamatsu Univ. Sch. of Med.
EO3-2
Thyroid disorders in childhood cancer survivors after radiation exposure
Cindy Ho1, Yee Sian Tiong3, Edwin, Yuen Hao Tong6, Kah Yin Loke1,2, Rajeev Parameswaran5,Chia Ching Lee4, Timothy Cheo4, Samantha Yang3
1
Khoo Teck Puat- National University Children’s Medical Institute, National University
Health System, Singapore,2
Department of Paediatrics, Yong Loo Lin School of Medicine, National University ofSingapore, Singapore,3
Department of Endocrinology, National University Health System, Singapore,4
Department of Radiation Oncology, National University Health System,
5
Department of Endocrine Surgery, National University Health System, Singapore,
6
University of Aberdeen
EO3-3	The prevalence of maternal microchimerism in Japanese children with type1 diabetes is lower than that of Caucasian patients with type 1 diabetes.
Kikumi Ushijima1,2, Nobuyuki Kikuchi2,3, Toru Kikuchi2,4, Tomoyuki Kawamura2,5,
Tatsuhiko Urakami2,6, Shin Amemiya2,4, Tsutomu Ogata2,7, Ichiro Yokota2,8,Shigetaka Sugihara2,9, Maki Fukami1,2
1
Dept. of Molecular Endocrinology, Nat'l Res. Inst. for Child Health and Development,
2The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes,
3
Dept. of Pediatr., Yokohama Rosai Hosp., 4Dept. of Pediatr., Saitama Medical Univ.,
5
Dept. of Pediatr., Osaka City Univ. Sch. of Med., 6Dept. of Pediatr., Nihon Univ. Sch. of Med.,
7
Dept. of Pediatr., Hamamatsu Univ. Sch. of Med.,
8
Dept. of Pediatr., Shikoku Medical Center for Children and Adults,
9Dept. of Pediatr., Tokyo Women's Medical Univ. Medical Center East
EO3-4	Effectiveness of incretin-based therapies in children with slowly
progressive type 1 diabetes at the early stage of diabetes
Tatsuhiko Urakami, Kouichirou Hara, Kei Yoshida, Yusuke Mine, Remi Kuwahara,
Masako Aoki, Yuriko Abe, Junichi Suzuki, Ichirou Morioka
Dept. of Pediatr., Nihon Univ. Sch. of Med.
EO3-5
The functional rescue of dominant WFS1 mutants in vitro
Khishigjargal Batjargal, Eriko Jimbo, Tajima Toshihiro
Department of Pediatrics, Jichi Medical University― 84 ―

Poster presentation 24 English Poster 1September, 27(Fri.) 17:50 ～ 18:30 Poster venue
Chairs		 Hideyuki Iwayama（Department of Pediatrics, Aichi Medical University School of Medicine）
Sachiko Kitanaka（Kitanaka Kids & Growth Clinic）― 85 ―

Information andProgram in English

P2-24-185	Cortisol/ACTH and Aldosterone/PRA ratio are useful for distinguishing
between patients with classical 21OHD and those with false positive
results
Yasuko Ogiwara, Yukihiro Hasegawa
Div. of Endocrinol. and Metab., Tokyo Metropolitan Children’s Medical Center
P2-24-186	A case of homozygous familial hypobetalipoproteinemia associatedwith chronic liver dysfunction
Takeru Yamauchi1,2, Kei Takasawa1, Yoshichika Maeda1, Manabu Takahashi3,
Tomohiro Morio1, Shun Isibashi3, Kennichi Kashimada1
1
Department of Pediatrics and Developmental Biology, Tokyo Medical and DentalUniversity,
2
Center for Maternal, Fetal and Neonatal Medicine, Kyoto University Hospital,
3
Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi
Medical University, School of Medicine
P2-24-187	Abnormal water-sodium metabolism in acute encephalopathy inchildhood: focused on the relationship between endocrinologicaldisorders and magnetic resonance findings.
Tadashi Moriwake, Takahiro Shiwaku, Takahiro Myoi, Yuko Okabayashi,
Kousuke Kunichika, Hiroaki Ochi, Fumiko Shinji, Yuka Ando, Keisuke Takada
Department of Pediatrics, National Hospital Organization Iwakuni Clinical CenterP2-24-188	Can early start of GH treatment improve adult height in GHD?
Toshiaki Tanaka1, Shun Soneda1,2, Atsuko Ogasawara1,3, Naoko Sato1,4, Kentaro Kishi1,5,Masahiro Noda1,61
Tanaka Growth Clinic, 2St. Marianna University School of Medicine
3
Ibaraki Children’s Hospital,
4
Tokyo University, Department of Pediatrics,
5
Tachibanadai Clinic, 6Showa General Hospital, Department of Pediatrics

P2-24-189	INCREASE TREND IN PROPORTIONS OF OBESITY IN JAPANESEPAEDIATRIC PATIENTS WITH TYPE 1 DIABETES
Mie Mochizuki1,2, Toru Kikuchi2,3, Yoshiya Ito2,4, Ikuma Musha2,3, Makoto Anzo2,5,
Kumihiro Matsuo2,6, Shun Soneda2,7, Koji Kobayashi1,2, Hiroshi Yokomihci2,8,Ichiro Yokota2,9, Tomoyuki Kawamura2,10, Nobuyuki Kikuchi2,11, Tatsuhiko Urakami2,12,Nobuo Matsuura2,13, Nozomu Sasaki2,3, Shin Amemiya2,14, Shin Amemiya2,31
Dept. of Pediatr., Univ. of Yamanashi,2the Japanese Study Group of Insulin Therapy for Childhood and AdolescentDiabetes,
3
Dept. of Pediatr., Saitama Med. Univ.,
4Japanese Red Cross Hokkaido College of Nursing,
5
Dept. of Pediatr., Tokyo Metropolitan Ohtsuka Hosp.,
6
Dept. of Pediatr., Monbetsu Hosp.,
7
Dept. of Pediatr., St. Marianna Univ. Sch. of Med.,
8
Dept. of Health Sciences, Univ. of Yamanashi,
9Shikoku Medical Center for Children and Adults,
10Osaka City Univ. Graduate Sch. of Med,
11
Dept. of Pediatr., Yokohama City Univ.,
12
Dept. of Pediatr. and Child Health, Nihon Univ. Sch. of Med.,
13
Dept. of Pediatr., Bibai City Hosp.,
14
Dept. of Pediatr., Tokyo Women’s Medical Univ. Medical Center East
P2-24-190	Prenatal genetic counseling for fetus having suspected ambiguous
genitalia
Takeshi Sato1,2, Yousuke Ichihashi1,2, Satoshi Tamaoka1, Tomohiro Ishii1,2, Mariko Hida1,
Yu Yamaguchi3, Daigo Ochiai4, Hiroshi Asanuma2,5, Tatsuo Kuroda2,6,
Tomonobu Hasegawa1,21
Dept. of Pediatr., Keio Univ. Sch. of Med.,2
The center for differences of sex development, Keio Univ. Hosp.,
3
Dept. of Medical Genetics, Gunma Children's Medical Center,
4
Dept. of Gynecology, Keio Univ. Sch. of Med.,
5
Dept. of Urology, Keio Univ. Sch. of Med.,
6
Dept. of Pediatric Surgery, Keio Univ. Sch. of Med.
P2-24-191	A case of 5 years-old boy with type 1 diabetes mellitus andautoimmune hepatitis
Yoko Kina1, Toshifumi Yodoshi2, Shiuichiro Umetsu3, Junko Igaki1
1
Dept. of Pediatr., Endoclinology and Metabolism, Okinawa pref. Nanbu Medical
Center & Children's Medical Center,2
Dept. of Pediatr., Okinawa Chubu Hosp.（Division of Gastroenterology, Hepatologyand Nutrition, Cincinnati Children's Hosp. Medical Center）,
3
Dept. of Pediatr. Hepatology and Gastroenterology, Saiseikai Yokohamashi Tobu
Hospital― 86 ―

Poster presentation 32 English Poster 2P2-32-247	Clinical study on factors relevant to metabolic syndrome in obese
children with Achondroplasia and Hypochondroplasia
Yukako Nakano, Taichi Kitaoka, Kei Miyata, Kenichi Yamamoto, Shinji Takeyari,
Hirofumi Nakayama, Makoto Fujiwara, Yasuhisa Ohata, Takuo Kubota, Keiichi Ozono
Dept. of Pediatr, Osaka University, Graduate Sch. of MedP2-32-248	Clinical and genetic aspects of mild hypophosphatasia in Japanesepatients.
Yoko Nakajima1, Katsuyuki Yokoi1, Yoshimi Sano2, Hiroki Kurahashi3,Tetsushi Yoshikawa1, Tetsuya Ito1
1
Dept Pediatr., Fujita Health Univ. Sch. of Med.,
2
Div. of Pediat. Dentistry, Fujita Health Univ. Sch. of Med.,
3
Div. Mol. Genet.  Inst.for Comprehensive.Med. Sci., Fujita Health Univ.
P2-32-249	Development of triplex assay of TSH, FT4 and 17OHP and its
evaluation of newborn screening for congenital hypothyroidism andcongenital adrenal hyperplasiaMasaru Fukushi1, Chiyoko Yoshii2, Takuya Yamagishi3
1
Sapporo Immuo Diagnostic Laboratory,
2
Hiroshima city Medical Association Clinical laboratory,
3
Sapporo City Institute of Public Health, Sapporo
P2-32-250	Japanese pediatric bone age assessment system using convolutional
neural networks.
Yousuke Higuchi1, Kyohei Takahashi2, Yuki Ebuchi1, Mahoko Furujo1, Toshihide Kubo1
1
Dept. of Pediatr., NHO Okayama Medical Center,2
Dept. of Pediatr., NHO Sagamihara National HospitalP2-32-251	A patient with cytochrome P450 oxidoreductase deficiency who was
not detected by neonatal screening
Masayo Yamazaki, Makiko Oguma, Toshihiro Tajima, Takanori Yamagata
Dept. of Pediatr., Jichi Med. Univ.
P2-32-252	Subacute thyroiditis presenting with creeping thyroiditis in a six-yearold boy
Tatsuro Nakamura1, Haruna Kakimoto2, Jun Nagahama1, Satoshi Morita2,
Michiyo Mizota2, Jiro Iwamoto1
1
Dept. of Pediatr., Tanegashima Medical Center,2
Dept. of Pediatr., Kagoshima Univ. Sch. of Med.
P2-32-253	An Adolescent Girl Presented with Hoarseness of Voice
Ho-chung YAUDepartment of Paediatrics, Prince of Wales Hospital, The Chinese University ofHong Kong, Hong Kong

― 87 ―

Information andProgram in English

September, 27(Fri.) 18:35 ～ 19:15 Poster venueChairs		 Masahiko Kawai（Center for Maternal, Fetal and Neonatal Medicine, Kyoto University			    Hospital）
Rumi Hachiya（Division of Endocrinology and Metabolism, Tokyo Metoropolitan Children's
Hospital）