Invited Plenary Lecture, JSPE International PrizeOctober, 30(Sat.) 15:00 ～ 16:10 Room 1
Chair		

Keiichi Ozono（Department of Pediatrics, Osaka University Graduate School of Medicine）
Making Diagnoses in Short Stature of Undefined Cause
Peter E Clayton1,21
Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health,
University of Manchester
2
Royal Manchester Children’s Hospital, Manchester University Hospitals NHS Foundation
Trust, UK
KSPE-JSPE Plenary Lecture

October, 28(Thu.) 10:50 ～ 11:40 Room 1
Chair		

Tomonobu Hasegawa（Department of Pediatrics, Keio University School of Medicine）
Applications of genomics in pediatric endocrine diseases
Jin-Ho Choi, MD
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine,Seoul, Korea
English Oral session 1October, 29(Fri.) 9:40 ～ 10:30 Room 4Chairs		 Akie Nakamura（Department of Pediatrics, Hokkaido University School of Medicine）
Kosei Hasegawa（Department of Pediatrics, Okayama University Hospital）
EO1-1	Functional analysis of PAX8 variants identified in patients with congenital
hypothyroidism
Khishigjargal Batjargal1,3, Toshihiro Tajima1, Eriko Jimbo1, Takeshi Yamaguchi2,Akie Nakamura2, Takanori Yamagata11Dept. of Pediatr., Jichi Medical University, Tochigi, Japan,
2
Dept.of Pediatr., Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan.,3
Dept. of Pediatr., Mongolian National University of Medical Sciences, Ulaanbaatar, Mongolia.
EO1-2	Measurement of reverse T3 level and the T3 to reverse T3 ratio in dried
blood spot samples at birth may facilitate early detection ofmonocarboxylate transporter 8 deficiency
Hideyuki Iwayama1, Hiroki Kakita2, Masumi Iwasa1, Shinsuke Adachi3, Kyoko Takano4,Masahiro Kikuchi5, Yasuko Fujisawa6, Hitoshi Osaka7, Yasumasa Yamada2, Akihisa Okumura1,
Khemraj Hirani8, Roy Weiss8, Samuel Refetoff 9
1
Dept. of Pediatr., Aichi Med Univ. Sch. of Med.,
2
Dept. of Perinat. and Neonat., Aichi Med Univ. Sch. of Med.,
3
Dept. of Pediatr., Fukushiyama City Hosp., 4Cent. for Med. Genet., Shinshu Univ. Hosp.,
5
Dept. of Pediatr., Hitachi Gener. Hosp., 6Dept. of Pediatr., Hamamatsu Univ. Sch. of Med.,
7
Dept. of Pediatr., Jichi Med. Sch., 8Dept. of Med., Univ. of Miami Miller Sch. of Med.,
9
Dept. of Med., Univ. of Chicago
Central precocious puberty in a boy with pseudohypoparathyroidism type 1B
EO1-3
Vlad Tocan, Yuichi Mushimoto, Kanako Kojima-Ishii, Naoko Toda, Shouichi Ohga
Dept. of Pediatr., Grad. School of Med. Sci., Kyushu Univ.

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English Oral Session 2October, 29(Fri.) 13:20 ～ 14:20 Room 4
Chairs		 Noriyuki Namba（Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori
University）		 Hiroshi Mochizuki（Division of Endocrinology and Metabolism, Saitama Children’s Medical Center）
EO2-1	Switch Data From the Open-Label Extension of the Pivotal Phase 3 Study ofOnce Weekly Somatrogon Compared to Daily Somatropin in PediatricPatients with Growth Hormone Deficiency（pGHD）
Michael Wajnrajch1, Bradley Miller2, Joel Steelman3, Lawrence Silverman4, Moshe Phillip5,
Elpis Vlachopapadopoulou6, Renata Stawerska7, Ho-Seong Kim8, Oleg Malievskiy9,
Cheol Woo Ko10, Srinivas Valluri1, Carrie Taylor1, Carl Roland11, John Choe12,Aleksandra Pastrak12, Cheri Deal13
1Pfizer Inc, New York, NY, USA,
2
University of Minnesota Masonic Children’s Hospital, Minneapolis, MN, USA,
3Cook Children’s Medical Center, Fort Worth, TX, USA,
4
Goryeb Children’s Hospital, Morristown, NJ, USA,
5Schneider Children’s Medical Center, Petah Tiqwa, Israel,
6Children’s Hospital P. & A. Kyriakou, Athens, Greece,7Polish Mother’s Memorial Hospital-Research Institute and Medical University of Lodz,Lodz, Poland,
8Yonsei University College of Medicine Institution City Seoul, Seoul, Republic of Korea,
9Bashkir State Medical University, Ufa, Russian Federation,
10Kyungpook National University Children’s Hospital, Daegu, Republic of Korea,
11Pfizer Inc, Sanford, NC, USA, 12OPKO Health, Toronto, ON, Canada,
13
Research Center, Sainte-Justine Mother-Child University Teaching Hospital and Universityof Montreal, Montreal, QC, Canada― 65 ―Information andProgram in English

EO1-4	The elucidation of genetic and phenotypic features of the mitochondrial
genome in the Japanese population
Kenichi Yamamoto1,2, Saori Sakaue2,3,4, Koichi Matsuda5, Yoshinori Murakami6,
Yoichiro Kamatani3,7, Keiichi Ozono1, Yukihide Momozawa8, Yukinori Okada2,9,10
1
Dept. of Pediatr., Osaka Univ. Grad. Sch. of Med.,
2
Dept. of Stat. Genet., Osaka Univ. Grad. Sch. of Med.,
3Lab. for Stat. and Transl. Genetics, RIKEN Center for Integ. Med. Sci.,
4Div. of Genet. and Reumatol., Dept. of Med., Brigham and Women's Hosp., Harvard Med. Sch.,
5
Dept. of Comput. Biol. and Med. Sci., Grad. Sch. of Front. Sci.,
6Div. of Mol. Path., the Inst. of Med. Sci., the Univ. of Tokyo,
7Lab. of Complex Trait Genomics, Dept. of Comput. Biol. and Med. Sci., Grad. Sch. of Front.
Sci, the Univ. of Tokyo,
8Lab. for Genotyping Development, RIKEN Center for Integ. Med. Sci.,
9Lab. of Stat.l Immunol., Immunol. Front. Research Center,10Integ. Front. Research for Med. Sci. Div., Institute for Open and Transdisciplinary
Research Initiatives
EO1-5
Haploinsufficiency of DMRT1 causes 46,XY gonadal dysgenesis
Misa Honda1, Mizue Tsukui2, Hironori Shibata1, Satoshi Narumi3, Tomohiro Ishii1,Tomonobu Hasegawa1
1
Dept. of Pediatr., Keio Univ. Sch. of Med.,
2
Dept. of Pediatr., Japanese Red Cross Ashikaga Hosp.,
3
Dept. of Molecular Endocrinology, National Center for Child Health and Development

EO2-2	Safety and effectiveness of pediatric growth hormone therapy: results fromthe full cohort in KIGS
Mohamad Maghnie1, Michael B Ranke2, Mitchell E Geffner3, Elpis Vlachopapadopoulou4,Helmuth G Dörr5, Kerstin Albertsson Wikland6, Lourdes Ibáñez7, Martin Carlsson8,
Wayne Cutfield9, Raoul Rooman10, Roy Gomez11, Michael P Wajnrajch8, Agnès Linglart12,
Renata Stawerska13, Michel Polak14, Adda Grimberg15
1Dept of Pediatrics, Univ of Genova, Genova, Italy,2
Dept of Pediatric Endocrinology, University Children's Hospital, Tübingen, Germany,
3
The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA, USA,4
Dept of Endocrinology, Growth and Development, Aglaia Kyriakou Children's Hospital,Athens, Greece,
5Division of Pediatric Endocrinology, Dept of Pediatrics and Adolescent Medicine, FriedrichAlexander Univ of Erlangen-Nürnberg, Erlangen, Germany,
6
Dept of Physiology/Endocrinology, Institute of Neuroscience and Physiology, Sahlgrenska
Academy, Univ of Gothenburg, Gothenburg, Sweden,
7Endocrinology, Pediatric Research Institute Sant Joan de Déu, Barcelona, Spain,
8Endocrine Care, Pfizer, New York, NY, USA,
9Liggins Institute, Univ of Auckland, Auckland, New Zealand, 10PendoCon, Putte, Belgium,
11
European Medical Affairs, Pfizer, Brussels, Belgium,
12
Dept of Pediatric Endocrinology and Diabetology for Children, APHP, Bicêtre Paris Saclay,Le Kremlin Bicêtre, France,
13
Dept of Endocrinology and Metabolic Diseases, Polish Mother's Memorial HospitalResearch Institute, Lodz, Poland,
14
Université de Paris; Hopital Necker Enfants Malades, Paris, France,
15
The Children's Hospital of Philadelphia, Philadelphia, PA, USA
EO2-3	Global Pivotal Phase 3 Trial Comparing Once Weekly Somatrogon to Once
Daily Genotropin in Children with Growth Hormone Deficiency（pGHD）
Cheri Deal1, Aleksandra Pastrak2, Lawrence Silverman3, Srinivas Valluri4, Michael Wajnrajch4,Jose Cara41
Research Center, Sainte-Justine Mother-Child University Teaching Hospital and Universityof Montreal, Montreal, QC, Canada,
2
OPKO Health, Toronto, ON, Canada, 3Goryeb Children’s Hospital, Morristown, NJ, USA,
4
Pfizer Inc, New York, NY, USA
EO2-4	Long-term safety of growth hormone in adults and adolescents with growth
hormone deficiency: an overview of the full-cohort in KIMS
Gudmundur Johannsson1, Philippe Touraine2, Ulla Feldt-Rasmussen3, Antonio Pico4,5,6, Greisa Vila7,
Martin Carlsson8, André P van Beek9, Michael P Wajnrajch8, Roy Gomez10, Kevin CJ Yuen11
1
Dept of Endocrinology, University Hospital, Göteborg, Sweden,
2
Sorbonne Université, Assistance Publique Hopitaux de Paris, Paris, France,
3
Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark,4
Biomedical Research Networking Center in Rare Diseases（CIBERER）,Institute of Health
Carlos III（ISCIII）,Madrid, Spain,5
Hospital General Universitario de Alicante-Institute for Health and Biomedical Research（ISABIAL）,Alicante, Spain,
6
Dept of Clinical Medicine, Miguel Hernández University, Elche, Spain,
7
Clinical Division of Endocrinology and Metabolism, Dept of Internal Medicine III, Medical
University of Vienna, Vienna, Austria,
8Endocrine Care, Pfizer, New York, NY, USA,9
Dept of Endocrinology, University Medical Center Groningen, University of Groningen,Groningen, Netherlands,
10
European Medical Affairs, Pfizer, Brussels, Belgium,
11
Barrow Pituitary Center and Neuroendocrinology Clinic, Barrow Neurological Institute,
University of Arizona College of Medicine, Creighton School of Medicine, Phoenix, AZ, USA― 66 ―

English Oral Session 3October, 29(Fri.) 14:30 ～ 15:20 Room 4Chairs		 Tsuyoshi Isojima（Department of Pediatrics, Teikyo University School of Medicine）
Shigeru Suzuki（Department of Pediatrics, Asahikawa Medical University）
EO3-1	Efficacy, effectiveness, and tolerability of nasal glucagon in treating
hypoglycemia in children and adolescents with type 1 diabetes
Nan Zhang, Christopher Child, Qianqian Wang, Vivian Thieu
Eli Lilly and Company
EO3-2
A Japanese boy suspected of Simpson-Golabi-Behmel syndrome
Masayo Yamazaki, Makiko Oguma, Toshihiro Tajima, Takanori Yamagata
Dept. of Pediatr., Jichi Med. Univ.
EO3-3	A mutation of the β -domain in POU1F1 causes pituitary deficiency due todominant PIT-1 β expression
Shigeru Suzuki1, Kumihiro Matsuo1,2, Yoshiya Ito1,3, Atsushi Kobayashi1,4, Osamu Ueda1,5,Tokuo Mukai1,6, Koichi Yano1,7, Kenji Fujieda1,8, Akimasa Okuno1,9, Yusuke Tanahashi1,10,
Hiroshi Azuma1,91
Dept. of Pediatr., Asahikawa Med. Univ., 2Dept. of Pediatr., Mombetsu General Hosp.,
3
Facult. of Nursing., Japanese Red Cross Hokkaido Col. of Nursing.,
4
Div. of Metab and Biosyst Sci., Dept.of Med., Asahikawa Med. Univ.,
5Dept.of Med., Toya Onsen Hosp., 6Dept. of Pediatr., Jap Red Cross Asahikawa Hosp.,
7City of Sapporo Minami Health and Welfare Center,8（deceased）
Former Prof., Dept. of Pediatr., Asahikawa Med. Univ.,
9Emeritus Prof., Asahikawa Med. Univ., 10Dept. of Pediatr., Wakkanai City Hosp.

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Information andProgram in English

EO2-5	Perception of Treatment Burden with Once Weekly Somatrogon vs Once
Daily Genotropin in Pediatric Patients with Growth Hormone Deficiency（GHD）: Results from a Randomized Phase 3 Study
Aristides Maniatis1, Mauri Carakushansky2, Sonya Galcheva3, Gnanagurudasan Prakasam4,Larry Fox5, Adriana Dankovcikova6, Jane Loftus7, Andrew Palladino8, Maria Resa9,Carrie Taylor9, Mehul Dattani10, Jan Lebl11
1
Rocky Mountain Pediatric Endocrinology, Centennial, CO, USA,
2
Nemours Children’s Hospital, Orlando, FL, USA, 3UMHAT “St. Marina”, Varna, Bulgaria,
4Sutter Medical Center and Center of Excellence in Diabetes and Endocrinology,
Sacramento, CA, USA,
5
Nemours Health System, Jacksonville, FL, USA,
6
Children’s Faculty Hospital Kosice, Kosice, Slovakia, 7Pfizer Ltd, Tadworth, UK,
8Pfizer Inc, Collegeville, PA, USA, 9Pfizer Inc, New York, NY, USA,
10UCL Great Ormond Street Institute of Child Health, London, UK,
11Charles University and University Hospital Motol, Prague, Czech Republic
EO2-6	Once-weekly somapacitan versus daily growth hormone in growth hormone
deficiency: 3 year efficacy and safety results from REAL 3, a randomised
controlled phase 2 trial
Lars Savendahl1, Tadej Battelino2, Michael Hojby Rasmussen3, Paul Saenger4,
Reiko Horikawa5
1
Karolinska Inst., Karolinska Univ. Hosp.,
2Fac. of Med., UMC-Univ. Children's Hosp., Univ. of Ljubljana,
3
Global Development, Novo Nordisk A/S, 4NYU Langone Health, Mineola,5Division of Endocrinology and Metabolism, National Center for Child Health andDevelopment

EO3-4

A novel NARS2 mutation detected in siblings of neonatal diabetes mellitus
Hideaki Yagasaki, Hiromune Narusawa, Fumikazu Sano, Koichi Makino, Yumiko Mitsui,Kazumasa Sato, Koji Kobayashi, Tomoaki Sano, Masanori Ota, Takeshi Inukai
Dept. of Pediatr., Yamanashi Univ. Such. of Med.
EO3-5	Assisted reproductive technology represents a possible risk factor for
development of epimutation-mediated imprinting disorders for mothers aged
over 30 years
Kaori Hara1, Keiko Matsubara1, Masashi Mikami2, Takahiro Arima3, Tsutomu Ogata4,Maki Fukami1, Masayo Kagami1
1Dept. of Molecular Endocrinology, Natl. Res. Inst. for Child Health and Development.,
2
Division of Biostatistics, Clinical Res. Center, Natl. Center for Child Health and Development.,3
Dept. of Informative Genetics, Environment and Genome Res. Center, Tohoku Univ. Grad.
Sch. of Med.,
4
Dept. of Pediatr. Hamamatsu Univ. Sch. of Med.

― 68 ―