Androgen insensitivity syndrome

Case contributed by Dr Mostafa El-Feky

Presentation

Married female with complaints of primary amenorrhea and primary infertility. History of reconstructive surgery for vaginal stenosis and currently alleged urine from the vagina.

Patient Data

Age: 40 years
Gender: Female
MRI

Pelvis

Evidence of ballooning both inguinal subcutaneous regions by oblong shaped developed testicular tissue (confirmed by preserved diffusion restriction) just distal to the external ring of the inguinal canals bilaterally. They average around (right = 4.5 x 2.5 and left = 3 x 2.5 cm) in maximum dimensions with identifiable spermatic cords harboring gonadal vessels seen extending from the infra-renal regions.

Non-visualization of typical follicular pattern of both ovaries within the pelvic cavity (ovarian fossa) or along the visualized field of para-aortic region (non-developed ovaries).

The uterine body, cervix and upper two thirds of the vagina not identified (non-developed).

Normal configuration and zonal anatomy of the lower third vagina, no focal lesions identified.

Diffuse concentric urethral wall thickening with mucosal edema reaching intra-vesical to involve the mucosa of the bladder base/trigone. The postero-inferior urethral wall with opposing antero-inferior wall lower third vagina show altered signal of  diffuse transmural edema reflecting established inflammatory changes for clinic-laboratory correlation, still no definite urethro-vaginal fistulous tracts identified on imaging basis.

No prostatic tissue identified

The external genitalia show the following:

  • differentiated corpora cavernosa and corpus spongiosum down to clitoral head not conforming with the normal rudimentary feminine configuration reflecting clitoromegaly.
  • normal configuration of the labia majora and minora.

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.

The differential diagnosis is Mayer-Rokitansky-Kuster-Hauser syndrome where the uterus is rudimentary or absent as well, however with female karyotype and normal ovaries identified at imaging by US or MRI.

 

Case courtesy Prof. Dr. Heba Hassan, Professor of woman radiology, Alexandria University, Egypt.

PlayAdd to Share

Case information

rID: 69647
Published: 6th Aug 2019
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included
Institution: Dar El Ashaa Center

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.