Gonadal dysgenesis in a phenotypic female with an XY chromosomal constitution.
A phenotypic female with an XY karyotype and pure gonadal dysgenesis is described. Bilateral streak gonads may be found in patients with features of Turner's syndrome and also in phenotypic females without the somatic abnormalities described in Turner's syndrome. Mixed gonadal dysgenesis refers to the presence of a unilateral streak gonad and contralateral testis in a phenotypic female. Dysgenetic gonads are more liable to undergo malignant change, especially in patients with an XY karyotype, and in those with mixed gonadal dysgenesis. Laparotomy and removal of the dysgenetic gonads is indicated in patients with an XY karyotype. If a 46,XX chromosomal pattern is present, the malignant potential is probably less, but laparotomy is still indicated to enable a prognosis to be given regarding fertility.
D000328:Adult; D000568:Amenorrhea / Q000150:complications; D005260:Female; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics