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

Endocrine Journal

Yoko MIYOSHI²  Noriyuki NAMBA²  Toshimi MICHIGAMI¹  Kanako TACHIKAWA¹  Yoko SANTO²  Shigeo NAKAJIMA²  Sotaro MUSHIAKE²  Keiichi OZONO²  Haruhiko HIRAI² 

[1] Department of Environmental Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health;Department of Developmental Medicine, Pediatrics, Osaka University Graduate School of Medicine

关键词: Frasier syndrome;    Wilms' tumor 1 gene;    Steroid-resistant nephrotic syndrome;    Pseudohermaphroditism;    Hemodialysis;   

DOI  :  10.1507/endocrj.K05-180

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(16)Cited-By(2)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.

【 授权许可】

Unknown