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Article

Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome.

Endocrine journal - 1 Jun 2006

Miyoshi Yoko, Santo Yoko, Tachikawa Kanako, Namba Noriyuki, Hirai Haruhiko, Mushiake Sotaro, Nakajima Shigeo, Michigami Toshimi, Ozono Keiichi

Abstract excerpt

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....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gonadal Dysgenesis, 46,XY

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Share to Kidney Failure, Chronic

Share to Point Mutation

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Source

Identifiers

PMID: 16717397
DOI: 10.1507/endocrj.k05-180

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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