P1-6: Puberty, DSD

[P1-6-17] CHARGE syndrome with a CHD7 mutation accompanied by a mutation in SOX2.

^○Miki Kamimura¹, Hirohito Shima^1,2, Erina Suzuki², Chisumi Sogi¹, Junko Kanno¹, Maki Fukami², Ikuma Fujiwara³ (1.Department of Pediatrics, Tohoku University Hospital, 2.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 3.Department of Pediatric Endocrinology and Environmental Medicine, Tohoku University Graduate School of Medicine)