title: Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome.
abstract: 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.
authors.affiliation: Department of Developmental Medicine, Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Miyoshi
authors.forename: Yoko
authors.initials: Y
authors.lastname: Santo
authors.forename: Kanako
authors.initials: K
authors.lastname: Tachikawa
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Namba
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Hirai
authors.forename: Sotaro
authors.initials: S
authors.lastname: Mushiake
authors.forename: Shigeo
authors.initials: S
authors.lastname: Nakajima
authors.forename: Toshimi
authors.initials: T
authors.lastname: Michigami
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ozono
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D004958:Estradiol / Q000097:blood*; D017809:Fatal Outcome; D005260:Female; D052159:Frasier Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis*; D006579:Heterozygote; D006801:Humans; D007676:Kidney Failure, Chronic / Q000628:therapy; D010641:Phenotype; D017354:Point Mutation; D011628:Puberty, Delayed / Q000235:genetics*; D006435:Renal Dialysis
chemical_list: D004958:Estradiol