1.
Urol Case Rep
; 26: 100939, 2019 Sep.
Artículo
en Inglés
| MEDLINE
| ID: mdl-31275808
RESUMEN
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.