title: Frasier syndrome: a rare cause of delayed puberty.
abstract: We report on a post-renal transplant patient who presented with delayed pubertal development at the age of 15 years. She had a normal female phenotype. Blood analysis showed hypergonadotropic hypogonadism. Her karyotype was 46,XY. DNA analysis showed a heterozygous mutation in the WT1 gene (C to T mutation at position +4 of the splice donor site within intron 9). A diagnosis of Frasier syndrome was made and she underwent laparoscopic gonadectomy. This case illustrates that, while delayed puberty is common in children with chronic illness, clinicians should be particularly aware of the possibility of Frasier syndrome in those with progressive glomerulopathy and delayed puberty. DNA analysis is a useful means of confirming the diagnosis.
authors.affiliation: Department of Paediatrics, Queen Elizabeth Hospital, 30 Gascoigne Road, Hong Kong. chankyw@ha.org.hk
authors.forename: W K Y
authors.initials: WK
authors.lastname: Chan
authors.forename: K F
authors.initials: KF
authors.lastname: To
authors.forename: W M
authors.initials: WM
authors.lastname: But
authors.forename: K W
authors.initials: KW
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D002369:Castration; D005260:Female; D052159:Frasier Syndrome / Q000150:complications* / Q000235:genetics / Q000601:surgery; D006801:Humans; D007006:Hypogonadism / Q000209:etiology* / Q000601:surgery; D009154:Mutation; D009404:Nephrotic Syndrome / Q000209:etiology* / Q000601:surgery; D010641:Phenotype; D011628:Puberty, Delayed / Q000209:etiology*; D025721:WT1 Proteins / Q000235:genetics
chemical_list: D025721:WT1 Proteins