Androgen insensitivity syndrome
Labia majora swelling since birth.
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Normal imaging features of the external female genitalia including the labia majora and minora with rudimentary bulbo-cavernous muscle and prominent clitoris. No scrotal tissue identified on MRI.
Identification of the lower third of the vagina, otherwise, the proximal two thirds together with the uterine body and cervix are not visualized, compatible with aplasia.
Non-identification of both ovaries, but there are oval T2 iso- to hyperintense structures along the inguinal canals bilaterally, compatible with testicles. The right is just inferior to the external inguinal ring; it is approximately 3 cm in length. The left testicle is midway between the external inguinal ring and the sling of the left labia majora; it is approximately 3 cm in length. The left testicle is enveloped in an encysted hydrocele.
Normal features of the rectosigmoid colon and urinary bladder.
This case is genotypically male with a 46XY karyotype (proven), but with a female external genitalia.
Both parents are co-sanguinous (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.