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
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.
Both kidneys are normally present.
Case Discussion
Complete absence of the uterus and ovaries as well as upper vagina with rudimentary vaginal pouch and developed feminine external genitalia with bilateral developed undescended testes are features suggestive of androgen insensitivity syndrome (male pseudohermaphroditism). Unfortunately, karyotyping 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 Women Radiology, Alexandria University, Egypt.
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