title: 46,XY pure gonadal dysgenesis (Swyer-James syndrome)--Y or Y not?: a review.
abstract: The designation "pure gonadal dysgenesis" is applied to a particular variety of defective organo-genesis, in which phenotypically female patients with a 46,XY karyotype have complete lack of functioning gonadal tissue. The latter are represented anatomically by the presence of bilateral, elongated, nonfunctioning, rudimentary "streak" gonads composed of fibrous tissue, although normal female internal genitalia are present. The purpose of this review is to present the existing literature accumulated from 1955 to 1992 pertaining to 46,XY pure gonadal dysgenesis (Swyer-James syndrome), add the findings of a personally observed patient, and highlight the complexities in attempting to determine the etiology of this rare condition.
authors.affiliation: Department of Obstetrics and Gynecology, University of the Witwatersrand Medical School, Johannesburg, South Africa.
authors.forename: F
authors.initials: F
authors.lastname: Guidozzi
authors.forename: J
authors.initials: J
authors.lastname: Ball
authors.forename: A
authors.initials: A
authors.lastname: Spurdle
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012732:Sex Determination Analysis
chemical_list: D004247:DNA