Lack of Puberty Despite Elevated Estradiol in a 46,XY Phenotypic Female with Frasier Syndrome

DOI Web Site 被引用文献1件 参考文献26件
  • MIYOSHI Yoko
    Department of Developmental Medicine, Pediatrics, Osaka University Graduate School of Medicine
  • SANTO Yoko
    Department of Developmental Medicine, Pediatrics, Osaka University Graduate School of Medicine
  • TACHIKAWA Kanako
    Department of Environmental Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health
  • NAMBA Noriyuki
    Department of Developmental Medicine, Pediatrics, Osaka University Graduate School of Medicine First Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry
  • HIRAI Haruhiko
    Department of Developmental Medicine, Pediatrics, Osaka University Graduate School of Medicine
  • MUSHIAKE Sotaro
    Department of Developmental Medicine, Pediatrics, Osaka University Graduate School of Medicine
  • NAKAJIMA Shigeo
    Department of Developmental Medicine, Pediatrics, Osaka University Graduate School of Medicine
  • MICHIGAMI Toshimi
    Department of Environmental Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health
  • OZONO Keiichi
    Department of Developmental Medicine, Pediatrics, Osaka University Graduate School of Medicine

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抄録

Frasier syndrome is characterized by slowly progressive nephropathy, male pseudohermaphroditism, streak gonad, and high risk of gonadoblastoma development. Here we report a case of a 46,XY phenotypic female with Frasier syndrome, who was under hemodialysis. While her serum estradiol level was gradually increasing annually, gonadotropin level was constantly extremely high, and her appearance was still prepubertal. She was heterozygous for a novel guanine>adenine point mutation at position +1 of the splice donor site within intron 9 (IVS 9 + 1G>A) of the Wilms' tumor 1 gene. The possibility of this disease should be taken into consideration whenever we encounter a patient with steroid-resistant nephrotic syndrome and delayed puberty.<br>

収録刊行物

  • Endocrine Journal

    Endocrine Journal 53 (3), 371-376, 2006

    一般社団法人 日本内分泌学会

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