Invited Lecture
November, 2(Wed.) 17:05 ～ 17:45 Room 1 (1F G2)
Chair		 Tomonobu Hasegawa（Department of Pediatrics, Keio University School of Medicine）
Molecular causes of primary adrenal insufficency
John C. Achermann
UCL GOS Institute of Child Health, University College London, London, United Kingdom
KSPE-JSPE Plenary Lecture
November, 2(Wed.) 10:00 ～ 10:40 Room 1 (1F G2)
Chair		 Reiko Horikawa（Division of Endocrinology and Metabolism, National Center for Child Healthand Development）
2022 Clinical Practice Guidelines for Central Precocious Puberty in Korea
Ji Eun Lee
Department of Pediatrics, division of Pediatric Endocrinology & metabolism,
Inha University Hospital, Inha university medical school
Luncheon Seminar 2November, 1(Tue.) 12:00 ～ 12:50 Room 2 (3F G301+302)
Chair		 Tomonobu Hasegawa（Department of Pediatrics, Keio University School of Medicine）
IGFs and Growth Hormone Insensitivity: A Personal Voyage
Ron Rosenfeld
Professor and Chair of Pediatrics (emeritus), Oregon Health & Science University;
Professor of Pediatrics (emeritus), Stanford University
Cosponsored by Ascendis Pharma, Inc.
English Oral Session 1

diabetes and others

November, 2(Wed.) 8:40 ～ 9:50 Room 4 (3F G304)
Chairs		 Tatsuhiko Urakami（Urakami Pediatric Endocrinology and Diabetes Clinic）		 Misa Honda（Department of Pediatrics, Keio University School of Medicine）ⓁⓄ

EO1-1	Two sibling with LRBA deficiency presenting fulminant Type1 diabetes
mellitus in infancy
Dai Suzuki1, Eriko Totsune1, Tomohiro Nakano1, Akinobu Miura1,2, Hirohito Shima1,Sayaka Kawashima1, Ikumi Umeki1,3, Youji Sasahara1, Junko Kanno11
Dept. of Pediatr., Tohoku Univ. Sch. of Med., 2Dept. of Pediatr., Sendai City Hosp.,
3Dept. of Pediatr., Iwate Pref. Central Hosp.
EO1-2	A case with a heterozygous protein-truncating RFX6 variant diagnosed in
the early stage of diabetes
Kazuhisa Akiba1,2,3, Hiroaki Zukeran1,3, Yukihiro Hasegawa1,4
1Div. of Endorinol. Metab.,  TMCMC., 2Dept. of Mol. Endocrinol., NCCHD.,
3
Dept. of Pediatr., Keio Univ. Sch. of Med., 4Dept. of Pediatr., Tama-Hokubu Med. Cent.
EO1-3	Efficacy and Safety of Dapagliflozin in Young Adults with Type 1 DiabetesMellitus
Misa Honda1,2, Noboru Uchida3, Tomohiro Ishii1, Tomonobu Hasegawa1, Goro Sasaki2
1Dept. of Pediatr., Keio Univ. Sch. of Med., 2Tokyo Dental College Ishikawa Gneral Hosp.,
3
Saiseikai Utsunomiya Hosp.
― 106 ―

English Oral Session 2

growth, puberty and others

November, 2(Wed.) 14:30 ～ 15:30 Room 4 (3F G304)
Chairs				

ⓁⓄ

Masayo Kagami（Department of Molecular Endocrinology, National Research Institute forChild Health and Development）
Asako Tajima（Division of Endocrinology and Metabolism, Saitama Children's Medical Center）

EO2-1	Zinc deficiency may affect to phenotypes of Trichorhinophalangeal
syndrome type I harboring a novel TRPS1 VariantHideaki Yagasaki1, Koji Kobayashi1, Hiromune Narusawa1, Daisuke Watanabe1,Mie Mochizuki1, Kazumasa Sato1, Tomoaki Sano1, Hiroshi Mitsui2, Masanori Ota1,Takeshi Inukai11Dept. of Pediatr., Yamanashi Univ. Sch. of Med.,
2
Dept. of Dermatr., Yamanashi Univ. Sch. of Med.
EO2-2	Outcomes in growth hormone-treated Noonan syndrome children: impact ofPTPN11 mutation status
Alexander AL Jorge1, Alberto Pietropoli2, Nicky Kelepouris3, Reiko Horikawa4
1
Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade deMedicina da Universidade de Sao Paulo,
2
Novo Nordisk Health Care AG, 3Novo Nordisk Inc.,
4Div. Endocrinol. Metab., Nat. Cent. for Child Health and Development― 107 ―

Information andProgram in English

EO1-4	Experiences of Caregivers of Children and Young Adults with Type 1
Diabetes Related to Severe Hypoglycemia and Being Prepared with Nasal
Glucagon - A Qualitative Study
Allyson Hughes1, Emily Hankosky2, Jiat Ling Poon2, Katherine Chapman1, Mark R Vanderwel3,Jeoffrey Bispham1, Wendy Wolf1, Beverly Falcon2, Julie A Settles2, Christopher J Child2,
Makoto Imori (non-author presenter)4
1
T1D Exchange, 2Eli Lilly and Company, 3Pediatric Endocrinology and Diabetes Specialists,
4Eli Lilly Japan K.K.
EO1-5	A heterozygous familial hypercholesterolemia infant with a high polygenetic
risk score showed severe high LDL-cho
Hirohito Shima1, Kotaro Tayama1, Tomohiro Nakagawa1, Sayaka Kawashima1, Dai Suzuki1,
Masaki Matsubara2,3, Junko Kanno11
Dept. of Pediatr., Tohoku Univ. Hosp.,2
Dept. of Diabetes and Lipid Metab., Natl. Cereb. and Cardiovasc. Ctr. Res. Inst.,
3
Dept. of Gen. Med., Nara Med. Univ.
EO1-6	Peripheral glucocorticoid metabolism may predict patient severity in PICUShuji Sai1, Soichiro Wada1, Shigetoshi Ogiwara1, Takuya Tamura1, Karen Chapman2
1
Dept. of Pediatr., Teine-Keijinkai Hosp., 2QMRI, Univ. of Edinburgh
EO1-7	Achievement of Developmental Milestones Recorded in Real Time: A Mobile
App-Based Study
Keiko Matsubara1, Satoshi Narumi1, Tomoyuki Hattori2
1
Dept. of Molecular Endocrinology, National Research Institute for Child Health andDevelopment, 2First-Ascent Inc.

EO2-3	Molecular and clinical studies in 76 patients with central precociouspuberty
Hiromune Narusawa1,2, Keisuke Nagasaki3, Hideaki Yagasaki2, Yasuhiro Naiki4,Shinichiro Sano5, Tomohiro Saito6, Shun Soneda7, Shintaro Terashita8, Saori Kinjo9,Mitsukazu Mamada10, Sumito Dateki11, Satoshi Narumi1, Reiko Horikawa4, Tsutomu Ogata12,
Maki Fukami1, Masayo Kagami1
1Dept. Molecular Endocrinology, National Center for Child Health and Development,
2
Dept. Pediatr., Univ. Yamanashi.,3
Dept. Pediatr., Niigata Univ. Sch. Med. and Dent. Sciences,4Div. of Endocrinology and Metabolism, National Center for Child Health and Development,
5Dept. Pediatr Endo., Shizuoka Children's Hosp.,
6Dept. Pediatr., Yamanashi prefectural central Hosp., 7Tanaka Growth Clinic,
8
Dept. Pediatr., Faculty of Medicine Univ. Toyama., 9Dept. Pediatr., Okinawa Chubu Hosp.,
10Dept. Pediatr., Tango Central Hosp., 11Dept. Pediatr., Nagasaki Univ.,
12
Dept. Pediatr., Hamamatsu Medical Center.
EO2-4	Array comparative genomic hybridization is useful for diagnosis of Turnersyndrome with unbalanced translocation
Akie Nakamura1, Shuntaro Morikawa1, Takeshi Yamaguchi1, Nozomi Hishimura1,Kanako Nakayama1, Naoya Kaneko1, Katsura Ishizu2
1
Dept. of Pediatr., Hokkaido Univ. Sch. of Med., 2Kids Forest clinic
EO2-5	A case of Beckwith-Wiedemann syndrome with ACTH-independent Cushing'ssyndrome
Hiroko Yagi1, Tomohiko Sato1, Ken Higashimoto2, Hidenobu Soejima2, Kiminori Terui11
Dept. of Pediatr., Hirosaki Univ. Sch. of Med., 2Dept. of Biomol. Sci., Saga Univ. Sch. of Med.
EO2-6	The high incidence of vitamin D deficiency in Hokkaido, especially WakkaniSoya district, a high-latitude region of Japan
Yusuke Tanahashi1, Shinsuke Fukui1, Takamasa Miyoshi1, Hideki Tamaru1, Yuki Sasaki1,Tomoka Tsubota1, Takahide Kokumai2, Shigeru Suzuki2
1
Dept. of Pediatr, Wakkkani City Hosp., 2Dept. of Pediatr., Asahikawa Univ. Sch. of Med.
Web Poster Session 1

English Poster

November, 1(Tue.) 17:05 ～ 18:10 Zoom Breakout Room (web Poster Session Room 1)
Chairs						WP1-1-1

WP1-1-2ⓁⓄ

Kenichi Kashimada（Department of Developmental Biology and Pediatrics, Tokyo Medical andDental University）
Akie Nakamura（Department of Pediatrics, Hokkaido University School of Medicine）
Noriyuki Namba（Division of Pediatrics and Perinatology, Tottori University Faculty of Medicine)
A case short stature case with a novel pathological variant of BMP2
Yogi Analia, Ryosei Iemura, Hisae Nakatani, Kei Takasawa, Kenichi Kashimada
Dept. of Pediatr. and Developmental Biology, Tokyo Medical and Dental Univ.
MODY With GCK Gene Heterozygous Missense Variant
Mazidah Noordin1,2, Atsushi Hattori3, Maki Fukami3, Reiko Horikawa1
1Div. of Endocrinology, National Center for Child Health & Development (NCCHD), Tokyo,Japan,
2
Dept. of Pediatr., Faculty of Medicine, Universiti Teknologi MARA (UiTM), Sungai BulohCampus, Selangor, Malaysia
3
Div. of Molecular Endocrinology, National Center for Child Health and Development(NCCHD), Tokyo, Japan― 108 ―

WP1-1-4	A real-world study of persistence with daily growth hormone therapy amongchildren with growth hormone deficiency in Japan
Jane Loftus1, Jenifer Wogen2, Darrin Benjumea2, Priti Jhingran2, Yong Chen3, Jose Alvir4,Michael Wajnrajch4,5
1
Pfizer, Walton Oaks, UK, 2Genesis Research, Hoboken, NJ, USA,3
Pfizer Inc, Collegeville, PA, USA, 4Pfizer Inc, New York, NY, USA,
5
New York Univ. Grossman Sch. of Med., New York, NY, USA
WP1-1-5	Growth outcomes from phase 2 and phase 3 studies of once-weekly
somatrogon vs once-daily genotropin in pediatric patients with growth
hormone deficiency: comparisons with literature and a growth study
database
Zvi Zadik1, Jose Cara2, Martin Carlsson2, Michael Wajnrajch2,3, Ronnie Wang4, Ron Rosenfeld51
Pediatric Endocrinology, Kaplan Medical Center, Rehovot, Israel,
2
Pfizer Inc, New York, NY, USA,3New York Univ. Grossman Sch. of Med., New York, NY, USA,
4
Pfizer Inc, Groton, CT, USA, 5Oregon Health and Science Univ., Portland, OR, USA
WP1-1-6	Efficacy and safety of once-weekly somatrogon in pediatric subjects withgrowth hormone deficiency: lack of impact of anti-drug antibodies
Cheri Deal1, Lawrence Silverman2, Joan Korth-Bradley3, Carl Roland4, Carrie Taylor5,Jose Cara5, Michael Wajnrajch5,6
1
Centre de recherche CHU Ste-Justine, Université de Montréal,  Montréal, Canada,
2
Goryeb Children’s Hosp., Atlantic Health System, Morristown, NJ, USA,3Pfizer Inc, Collegeville, PA, USA, 4Pfizer Inc, Sanford, NC, USA,
5Pfizer Inc, New York, NY, USA, 6New York Univ. Grossman Sch. of Med., New York, NY, USA
WP1-1-7	Once-Weekly Somapacitan in Growth Hormone Deficiency: 4-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
Dept. of Women’s and Children’s Health, Karolinska Inst. and Pediatr. Endocrinology Unit,Karolinska Univ. Hosp.,
2Fac. of Med., UMC-Univ. Children’s Hosp., Univ. of Ljubljana,
3
Clinical Drug Development, Novo Nordisk A/S, 4NYU Langone Health, Mineola,
5Div. Endocrinol. Metab., Nat. Cent. for Child Health and Development― 109 ―

Information andProgram in English

WP1-1-3	Seasonal variation in vitamin D status of infants born in Saitama Cityemerges at 2 months of age
Keigo Takahashi1,2, Takeshi Arimitsu3, Kaori Hara-Isono3, Kazushige Ikeda2
1
Dept. of Pediatr., Washington Univ. in St. Louis,
2Div. of Neonat., Dept. of Pediatr., Saitama City Hosp.,
3
Dept. of Pediatr., Keio Univ. Sch. of Med.

WP1-1-8	Once-weekly Somapacitan is Effective and Well Tolerated in Children withGH Deficiency: a Randomized Phase 3 Trial
Bradley S. Miller1, Joanne C. Blair2, Michael Højby Rasmussen3, Volker Böttcher4,Rikke Beck Bang5, Rasmus Juul Kildemoes3, Aristides Maniatis6, Jun Mori7, Michel Polak8,9,10,11,
Stefano Stagi12, Reiko Horikawa13
1Div. of Pediatr. Endocrinology, Univ. of Minnesota Masonic Children's Hosp., Minneapolis,Minnesota, USA,2
Dept. of Endocrinology, Alder Hey Children’s NHS Foundation Trust, Liverpool, United Kingdom,3
Novo Nordisk A/S, Søborg, Denmark, 4Endocrinology Clinic, Frankfurt am Main, Germany,
5
Novo Nordisk A/S, Aalborg, Denmark,6
Rocky Mountain Pediatric Endocrinology, Centennial, CO, USA,
7
Dept. of Pediactr., Graduate Sch. of Medical Science, Kyoto Prefectural Univ. of Med.,
Kyoto, Japan,
8Service d’Endocrinologie, Gynécologie et Diabétologie Pédiatriques, Hôpital Universitaire
Necker Enfants Malades Paris, Assistance Publique-Hôpitaux de Paris, Paris, France,
9Université de Paris Cité, Paris, France, 10INSERM U1016, Institut Cochin, Paris, France,
11
Institut Imagine, Paris, France,
12Dept. of Health Sciences, Univ. of Florence, Anna Meyer Children's Univ. Hosp., Florence, Italy,
13
Div of Endocrinology and Metabolism, National Center for Child Health and Development,
Tokyo, Japan
WP1-1-9	Safety and efficacy of treatment with lonapegsomatropin in children withgrowth hormone deficiency at Week 130 in the enliGHten trial
Paul Hofman1, Paul S. Thornton2, Ulhas M. Nadgir3, Paul Saenger4, Elena D. Chertok5,Elena M. Aghajanova6, Wenjie Song7, Meng Mao7, Steven D. Chessler7, Allison S. Komirenko7,Michael Beckert8, Aimee D. Shu7, Aristides K. Maniatis9
1Liggins Institute, Univ. of Auckland, 2Cook Children’s Medical Center, Fort Worth, TX, USA,
3
Center of Excellence in Diabetes and Endocrinology, Sacramento, CA,
4
NYU Langone Health, New York, USA, 5Voronezh State Medical Univ., Voronezh, Russia,
6Yerevan State Medical Univ,, Yerevan, Armenia, 7Ascendis Pharma, Palo Alto, CA, USA,
8
Ascendis Pharma A/S, Hellerup, Denmark,9
Rocky Mountain Pediatric Endocrinology, Centennial, CO, USAWP1-1-10	Once-Weekly Somapacitan Versus Daily Growth Hormone in Children Born
Small for Gestational Age: Results From a Randomized Phase 2 Trial
Anders Juul1,2, Philippe Backeljauw3, Michael Højby4, Masanobu Kawai5,
Rasmus Juul Kildemoes6, Agnès Linglart7, Nehama Zuckerman-Levin8, Reiko Horikawa9
1
Dept. of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark,2
Dept. of Clinical Medicine, Univ. of Copenhagen, Copenhagen, Denmark,3
Div. of Endocrinology, Dept. of Pediatr., Cincinnati Children's Hosp. Medical Center, Univ.
of Cincinnati College of Medicine, Cincinnati, Ohio, USA,
4Clinical Drug Development, Novo Nordisk A/S, Søborg, Denmark,5Dept. of Gastroenterology, Nutrition and Endocrinology, Research Institute, Osaka Women’sand Children’s Hosp., Izumi, Japan,
6
Data Science, Novo Nordisk A/S, Søborg, Denmark,
7AP-HP, Service d'Endocrinologie et Diabète de l'Enfant, Hôpital Bicêtre Paris Saclay,
Université Paris Saclay, Le Kremlin-Bicêtre, France,
8
Institute of Diabetes, Endocrinology and Metabolism, Rambam Health Care Center, Bruce
Rappaport Faculty of Medicine, Technion, Haifa, Israel,
9Div. of Endocrinology and Metabolism, National Center for Child Health and Development,
National Center for Child Health and Development, Tokyo, Japan― 110 ―