Presentation
Primary amenorrhea.
Patient Data
Non-visualization of the uterus, cervix, Fallopian tubes or ovaries.
Two well-defined ovoid-shaped signal intensities likely representing the testes are seen in the mid inguinal regions bilaterally showing diffusion restriction in DWI and ADC maps.
Blind-ended atretic vaginal-like canal is seen measuring about 5.5-6 cm in length and extending between the urethra/urinary bladder and the rectum (blue arrows).
A small penile-like structure is noted partially protruding through the vaginal introitus (red arrow).
Case Discussion
The above-described features are impressive for androgen insensitivity syndrome (Testicular feminization syndrome).
Karyotyping was done and revealed 46XY chromosomes.
Androgen insensitivity syndrome (AIS), also known as testicular feminization syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings.
Radiological features include:
bilateral cryptorchidism +/- juxta-testicular Müllerian duct cysts
absent/rudimentary uterus
shortened/atretic vagina
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