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 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.
Miyoshi
Yoko
Y
Department of Developmental Medicine, Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
Santo
Yoko
Y
Tachikawa
Kanako
K
Namba
Noriyuki
N
Hirai
Haruhiko
H
Mushiake
Sotaro
S
Nakajima
Shigeo
S
Michigami
Toshimi
T
Ozono
Keiichi
K
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
D004958:Estradiol