This case is genotypically male with a 46XY karyotype (proven), but with female external genitalia.

Both parents are co-sanguineous (cousins). An initial history of trauma was considered psychological denial to the diagnosis and to justify the swelling.

First, both testes are suspected clinically and identified on ultrasonography (not available).

Further MRI clearly showed both testes and the other findings of this syndrome as described.

The combined karyotyping and imaging features are compatible with androgen insensitivity syndrome (testicular feminization), also known as male pseudohermaphroditism.

Case courtesy: Dr. Heba Hassan Ass.Professor of radiodiagnosis, Radiology Department, Alexandria University.