The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation. In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis. In order to evaluate their role i...

The case report describes the of 16-year-old girl who came to pediatric-gynecologist's for primary amenorrhea. She was normal height 155 cm, with female external genitalia, secondary sexual characteristics according Tanner M2,A3,Ph 4. In ultrasound we detected uterus infantile type, without endometrium, ovaries not visualized. functional cytology only basal and para-basal cells. As part differe...