title: Gonadal tumor in Frasier syndrome: a review and classification.
abstract: Frasier syndrome is a rare inherited disease characterized by steroid-resistant nephrotic syndrome, gonadal tumor, and male pseudohermaphroditism (female external genitalia with sex chromosomes XY), which is based on a splice site mutation of Wilms tumor-suppressor gene 1 (WT1). Several unusual Frasier syndrome cases have been reported in which male pseudohermaphroditism was absent. We reviewed 88 Frasier syndrome cases in the literature and classified them into three types (type 1-3) according to external genitalia and sex chromosomes, and described their clinical phenotypes. Type 1 Frasier syndrome is characterized by female external genitalia with 46,XY (n = 72); type 2 by male external genitalia with 46,XY (n = 8); and type 3 by female external genitalia with 46,XX (n = 8). Clinical course differs markedly among the types. Although type 1 is noticed at the mean age of 16 due to mainly primary amenorrhea, type 2 and 3 do not present delayed secondary sex characteristics, making diagnosis difficult. The prevalence of gonadal tumor is high in type 1 (67%) and also found in 3 of the 8 type 2 cases, but not in any type 3 cases, which emphasize that preventive gonadectomy is unnecessary in type 3. On the basis of our findings, we propose a new diagnostic algorithm for Frasier syndrome.
authors.affiliation: The Medical Training Center for Graduates, Tokyo Women's Medical University, Tokyo, Japan. Department of Surgical Pathology, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Jiro
authors.initials: J
authors.lastname: Ezaki
authors.affiliation: Department of Obstetrics and Gynecology, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Kazunori
authors.initials: K
authors.lastname: Hashimoto
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Asano
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Shoichiro
authors.initials: S
authors.lastname: Kanda
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Akioka
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Motoshi
authors.initials: M
authors.lastname: Hattori
authors.affiliation: Department of Surgical Pathology, Tokyo Women's Medical University, Tokyo, Japan. Department of Pathology, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Yamamoto
authors.affiliation: Department of Surgical Pathology, Tokyo Women's Medical University, Tokyo, Japan. Department of Pathology, Tokyo Women's Medical University, Tokyo, Japan. shibatan@research.twmu.ac.jp.
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Shibata
mesh_terms: D005260:Female; D052159:Frasier Syndrome / Q000150:complications* / Q000473:pathology; D006066:Gonads / Q000473:pathology*; D006801:Humans; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000145:classification* / Q000209:etiology* / Q000473:pathology