Case report: Rare heterozygous variant in the NR5A1 gene causing 46,XY complete gonadal dysgenesis with a non-communicating rudimentary uterus

• Toru Sasaki,
• Shinji Suzuki,
• Masanori Ono,
• Akiko Yamamoto,
• Masato Bingo,
• Masato Bingo,
• Gaku Yamanaka,
• Masahiko Kuroda,
• Natsuko Inagaki,
• Natsuko Inagaki,
• Hirotaka Nishi

Affiliations

Toru Sasaki

Department of Obstetrics and Gynecology, Tokyo Medical University, Tokyo, Japan

Shinji Suzuki

Department of Pediatrics, Tokyo Medical University, Tokyo, Japan

Masanori Ono

Department of Obstetrics and Gynecology, Tokyo Medical University, Tokyo, Japan

Akiko Yamamoto

Department of Obstetrics and Gynecology, Tokyo Medical University, Tokyo, Japan

Masato Bingo

Department of Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan

Masato Bingo

Department of Laboratory Medicine, Tokyo Medical University, Tokyo, Japan

Gaku Yamanaka

Department of Pediatrics, Tokyo Medical University, Tokyo, Japan

Masahiko Kuroda

Department of Molecular Pathology, Tokyo Medical University, Tokyo, Japan

Natsuko Inagaki

Department of Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan

Natsuko Inagaki

Department of Cardiology, Tokyo Medical University, Tokyo, Japan

Hirotaka Nishi

Department of Obstetrics and Gynecology, Tokyo Medical University, Tokyo, Japan