Presentation
Patient presented with a chief complaint of primary amenorrhea.
Patient Data
In the MRI examination of the patient, both undescended testes were noted in both inguinal canals, those showing T2/STIR hyperintensity, T1 hypointensity, and diffusion restriction in the DWI image. No evidence of a uterus or ovaries was noted in the MRI examination. However, both kidneys are visualized normally.
Diffuse concentric urethral wall thickening.
Clitromegaly with differentiated corpora cavernosa and corpus spongiosum down to the clitoral head.
The patient presented with primary amenorrhea with no evidence of uterus and ovaries on ultrasound examination, which resembled Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome; however, in hormonal assessment, there was an increased level of testosterone. On pelvic MRI examination, undescended testes were noted in both inguinal canals with no evidence of the uterus or ovaries.
Case Discussion
During clinical examination, there was no evidence of facial hair, and on ultrasound examination, the uterus and ovaries were not visualized, and the patient presented with primary amenorrhea. On biochemical examination, testosterone levels were found to be elevated, and anti-Mullerian and prolactin hormones were within normal limits.
On pelvic MRI examination, the uterus and ovaries were not visualized and two rounded T1 hypointense and T2/STIR hyperintense testes were noted within both inguinal canals. A sample was sent for karyotyping, but a report could not be obtained.
Androgen insensitivity syndrome, also known as testicular feminization syndrome results from mutations in the androgen receptor gene (AR), which cause complete or partial resistance to the testosterone hormone.
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