Urology Case Reports (Sep 2019)
The XY female and SWYER syndrome
Abstract
Abtsract: SWYER syndrome or pure gonadal dysgenesis is a disease in which individuals with a female phenotype, with female external genital organs, have a 46 XY karyotype and streak gonads that ought to be removed given their high malignization potential. We present the case of a patient with Swyer syndrome, and compare them with other cases of patients with a 46 XY karyotype, phenotypically female, such as in Congenital Adrenal Hyperplasia from deficiency of the 17 α hydroxylase/17–20 Lyase enzyme and in the Congenital Androgenic Insensitivity Syndrome. Keywords: Swyer syndrome, Gonadal dysgenesis, Primary amenorrhea, 46 XY