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Article

Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation.

Hormones (Athens, Greece) - 1 Jan 2000

Kitsiou-Tzeli Sophia, Deligiorgi Maria, Malaktari-Skarantavou Sophia, Vlachopoulos Charalampos, Megremis Spyridon, Fylaktou Irene, Traeger-Synodinos Joanne, Kanaka-Gantenbein Christina, Stefanadis Christodoulos, Kanavakis Emmanuel

Abstract excerpt

OBJECTIVE: Frasier syndrome (FS) phenotype in 46,XY patients usually consists of female external genitalia, gonadal dysgenesis, high risk of gonadoblastoma and the development of end stage renal failure usually in the second decade of life. FS is caused by heterozygous de novo intronic splice site mutations of the Wilms' tumor suppressor gene 1 (WT1), although a few cases with typical exonic WT1 Denys-Drash...

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PMID: 22908070
DOI: 10.14310/horm.2002.1366

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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