[3LBA-092] NR5A1 is a novel disease gene for 46,XX testicular disorder of sex development

〇MAKI IGARASHI¹, Kei Takasawa², Akiko Hakoda³, Junko Kanno³, Shuji Takada⁴, Masafumi Inui⁴, Mami Miyado¹, Yuko Katoh-Fukui¹, Satoshi Narumi¹, Takashi Baba⁵, Ken-ichirou Morohashi⁵, Toshihiro Tajima⁶, Kenichiro Hata⁷, Kazuhiko Nakabayashi⁷, Yoichi Matsubara⁸, Ryohei Sekido⁹, Tsutomu Ogata^1,10, Kenichi Kashimada², Maki Fukami¹ (1.Dept.of Mol. Endocrinol., Inst. for NCCHD, 2.Dept. of Pediatrics and Dev. Biol., Tokyo Med. and Dent. Univ., 3.Dept. of Endocrinol., Miyagi Childrens Hospital., 4.Systems BioMed., ., Inst. for NCCHD, 5.Dept. of Mol. Biol., Grad. Sch. of Med. Sci., Kyushu Univ., 6.Dept.of Pediatrics, Hokkaido Univ., 7.Maternal-Fetal Biol., Inst. for NCCHD, 8.Director, Inst. for NCCHD, 9.Instit. of Med. Sci., Univ. of Aberdeen., 10.Dept. of Pediatrics, Hamamatsu Univ. Sch. of Med.)

NR5A1, 46,XX testicular DSD, SOX9, NR0B1