Androgen insensitivity syndrome

Case contributed by Dr Ali Alsmair


Primary amenorrhea with normal developed secondary female organs.

Patient Data

Age: 15 years
Gender: Female

Evidence of complete absence of the uterus and the uterine cervix is noted.

The ovaries and fallopian tubes are not seen as well.

Almost complete development of the vagina is noticed.

There are bilateral intra-abdominal testes with surrounding juxtatesticular Mullerian duct cysts, the right testis measures 2.1 x 1.9 x 3.5 cm (ap x ml x cc), while the left testis measures 1.9 x 1.3 x 3 cm.

Normal development of the breasts and labia majora.

Case Discussion

Androgen insensitivity syndrome, also known as the testicular feminization syndrome, results from end-organ resistance to androgens, particularly testosterone. It may be complete or incomplete.

The patients have normal female external genitalia, however, there is an absence of the uterus, uterine cervix, fallopian tubes and proximal vagina and presence of testes instead. 
The role of imaging is important to diagnose the syndrome and to assess the location of the gonads before surgical planning 1.

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