Androgen insensitivity syndrome

Case contributed by Morouj Shaggah
Diagnosis almost certain

Presentation

Primary amenorrhea with absent secondary female characteristics.

Patient Data

Age: 18 years
Gender: Female

Pelvis without contrast

mri

Two oval T2W hyperintense structures are seen in both inguinal canals with diffusion restriction, compatible with bilateral undescended testis.

Identification of the lower third of the vagina, otherwise, the proximal two-thirds together with uterus, both ovaries and fallopian tubes are are not visualized.

Pelvis

ultrasound

Complimentary ultrasound shows two well-defined hypoechoic oval-shaped structures noted in both inguinal canals with internal vascularity.

Case Discussion

Complete absence of the uterus and ovaries as well as upper vagina with rudimentary vaginal pouch, developed feminine external genitalia with bilateral developed undescended testes are features suggestive for androgen insensitivity syndrome (male pseudohermaphroditism). Unfortunately, karotyping is not available which would confirm the diagnosis if results in a male karyotype 46 XY.

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