P1-6: Puberty, DSD

[P1-6-13] 46,XY disorder of sex development associated with a 2.2 Mb microdeletion in 9q33.3 including the NR5A1 gene with markedly elevated testosterone

^○Takeshi Yamaguchi¹, Toshihiro Tajima^1,2, Syuntaro Morikawa¹, Katsura Ishizu¹, Tadashi Ariga¹, Kimihiko Moriya³, Akie Nakamura^1,4, Maki Igarashi⁴, Maki Fukami⁴ (1.Department of Pediatrics, Hokkaido University School of Medicine, 2.Department of Pediatrics, Jichi Children’s Medical Center, 3.Department of Renal and Genitourinary surgery, Hokkaido University School of Medicine, 4.Department of Molecular Endocrinology, National Research Institute for Child Health and Development)