Pure gonadal (46, XY) dysgenesis--an XY female.
A case of pure gonadal dysgenesis is reported, the patient having a 46,XY genotype associated with female internal and external genitalia and bilateral streak gonads. The rarity of this syndrome is stressed. Reasons for not regarding this syndrome as synonymous with Swyer's syndrome are given.
D000293:Adolescent; D005260:Female; D006801:Humans; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics*