P1-6: Puberty, DSD

[P1-6-1] Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues

^○Maki Igarashi¹, Kei Takasawa², Akiko Hakoda³, Junko Kanno³, Shuji Takada⁴, Mami Miyado¹, Toshihiro Tajima⁵, Ryohei Sekido⁶, Tsutomu Ogata^1,7, Kenichi Kashimada², Maki Fukami¹ (1.Departments of Molecular Endocrinology, National Research Institute for Child Health and Development, 2.Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), 3.Department of Endocrinology, Miyagi Children’s Hospital, 4.Systems BioMedicine, National Research Institute for Child Health and Development, 5.Department of Pediatrics, Hokkaido University School of Medicine, 6.Institute of Medical Sciences, University of Aberdeen, 7.Department of Pediatrics, Hamamatsu University School of Medicine)