Oral 9: Bone & minerals, Others (CCS, dyslipidemia, etc), Growth and Puberty, DSD

2016年11月19日(土) 13:10 〜 14:10 第3会場 (Hall B7 (2))

Moderator: Maki Fukami (National Research Institute for Child Health and Development), Wayne Cutfield (Liggins Institute, University of Auckland)

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13:10 〜 13:20

[O9-1] FGFR1 mutations in four patients with congenital hypogonadotropic hypogonadism and split-hand/foot malformation: implications for the FGFR1 proximal promoter region

^○Kohnosuke Ohtaka¹, Yasuko Fujisawa¹, Rie Yamaguchi¹, Fumiko Kato¹, Hideaki Yagasaki¹, Tatsuya Miyoshi², Yukihiro Hasegawa², Tomonobu Hasegawa³, Hideaki Miyoshi⁴, Fumio Takada⁵, Momori Katsumi⁶, Maki Fukami⁶, Tsutomu Ogata¹ (1.Department of Pediatrics, Hamamatsu University School of Medicine, 2.Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, 3.Department of Pediatrics, Keio University school of Medicine, 4.Division of Rheumatology, Endocrinology and Nephrology, Hokkaido University Graduate School of Medicine, 5.Department of Medical Genetics, Kitasato University Graduate School of Medical Sciences, 6.Department of Molecular Endocrinology, National Research Institute for Child Health and Development)

13:20 〜 13:30

[O9-2] Low Anti-Mullerian hormone level may indicate ovarian dysfunction in pubertal female childhood cancer survivors

^○Kanako Tanase-Nakao, Yusuke Fujisawa, Kazuko Mizutani, Yumiko Terada, Yuta Chiba, Tomoko Yoshida, Yasuko Ogiwara, Keisuke Yoshii, Yasuhiro Naiki, Reiko Horikawa (Division of Endocrinology and Metabolism / Department of Pediatrics, National Center for Child Health and Development)

13:30 〜 13:40

[O9-3] Genetic diagnosis of 8 lipoatrophy patients in one single center via whole exome sequencing

^○Jia-tong Hou, Shi-yao Wang, Lin-jie Wang, Hong-bo Yang, Hua-bing Zhang, Feng-ying Gong, Hui Pan, Hui-juan Zhu (Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health，Peking Union Medical College Hospital， Chinese Academy of Medical Sciences ＆ Peking Union Medical College)

13:40 〜 13:50

[O9-4] Adult height and growth pattern in patients with classic congenital adrenal hyperplasia

^○SeokJin Kang, Mo Kyung Jung (Endocrinologic pediatrics, Yonsei University College of Medicine, Severance Children’s Hospital)

13:50 〜 14:00

[O9-5] Gene Expression Profiles of Children with GH Deficiency (GHD) prior to Treatment with Recombinant Human Growth Hormone (r-hGH) are Associated with Growth Response Over Five Years of Therapy

^○Adam Stevens¹, Philip Murray¹, Ekaterina Koledova², Pierre Chatelain³, Peter Clayton¹ (1.University of Manchester and Royal Manchester Children’s Hospital, 2.Merck KGaA, 3.Universit? Claude Bernard)

14:00 〜 14:10

[O9-6] Further evidence for the involvement of the specific ESR1 haplotype in the susceptibility to estrogenic endocrine disruptors

^○Yasuko Fujisawa¹, Rie Yoshida², Francesco Massart³, Naoyuki Kamatani⁴, Maki Fukami², Tsutomu Ogata¹ (1.Department of Pediatrics, Hamamatsu University School of Medicine, 2.Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 3.Department of Pediatrics, University of Pisa, 4.Institute of Data Analysis, StaGen Co. Ltd)