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Androgen insensitivity syndrome

Case contributed by Ahmed Mahrous Saied
Diagnosis probable

Presentation

Married female with complaints of primary amenorrhea and primary infertility.

Patient Data

Gender: Female

Pelvic MRI of the patient revealed:

  • Small blind-ended vaginal pouch.
  • Absent uterus, Fallopian tubes, and both ovaries.
  • No penis or scrotum detected.
  • Single well-defined, oval, soft tissue swelling within the left iliac region consistent with left undescended testicle.

Case Discussion

External examination of this patient demonstrates no anomaly with normal female external genitalia. Patients complaints are primary amenonorrhea with subsequent primary infertility.

These imaging findings are almost certainly diagnostic of complete androgen insensitivity syndrome.

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