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

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 gradua...

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Veröffentlicht in:	Endocrine Journal 2006, Vol.53(3), pp.371-376
Hauptverfasser:	MIYOSHI, Yoko, SANTO, Yoko, TACHIKAWA, Kanako, NAMBA, Noriyuki, HIRAI, Haruhiko, MUSHIAKE, Sotaro, NAKAJIMA, Shigeo, MICHIGAMI, Toshimi, OZONO, Keiichi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Base Sequence Estradiol - blood Fatal Outcome Female Frasier syndrome Frasier Syndrome - blood Frasier Syndrome - diagnosis Frasier Syndrome - genetics Gonadal Dysgenesis, 46,XY - diagnosis Hemodialysis Heterozygote Humans Kidney Failure, Chronic - therapy Phenotype Point Mutation Pseudohermaphroditism Puberty, Delayed - genetics Renal Dialysis Steroid-resistant nephrotic syndrome Wilms' tumor 1 gene
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