Presentation
Primary amenorrhea.
Patient Data
Age: 25 years
Gender: Female
From the case:
Androgen insensitivity syndrome
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/120955/annotated_viewer_json?iframe=true\u0026lang=us"}
The MRI sequences demonstrate:
- female external genitalia
- absence of the uterus, cervix and upper 2/3 of the vagina
- both testes are well-visualized along the inguinal canals
- Non-visualization of both ovaries
Case Discussion
The MRI features and the karyotype (46 XY in this case) are consistent with androgen insensitivity syndrome with female external genitalia (male pseudohermaphroditism).
The main differential diagnosis is Mayer-Rokitansky-Kuster-Hauser syndrome which has a female karyotype with normal female genitalia, and ovaries, but the uterus is rudimentary or absent.
Additional contributor: M. Slougui MD, CHU Constantine.