RRM Academy Synopsis
Complete Androgen Insensitivity Syndrome Found by Full Workup
This case report tells the story of one 22-year-old woman with primary amenorrhea. Doctors later diagnosed her with complete androgen insensitivity syndrome. Scans showed no uterus, cervix, or ovaries, only a short vagina. A genetic test found a male chromosome pattern. Doppler ultrasound found undescended testes hiding in her groin.
Key Findings
- Androgen insensitivity syndrome, the broader group this case belongs to, occurs in about 1 in 20,000 to 1 in 640,000 male births, per the cited background research.
- Karyotype testing found a male, 46,XY chromosome pattern, even though the patient had a female body and gender identity.
- Ultrasound and MRI found no uterus, cervix, or ovaries, plus a short, blind-ended vagina. This ruled out a typical female reproductive tract.
- Two masses in the groin looked like lymph nodes at first. Doppler ultrasound found blood flow typical of testicles, so doctors renamed them undescended testes.
- Doctors told the patient about the cancer risk in undescended testes and advised removing them. She withheld consent to surgery and hormone therapy, and joined a support group.
Interpretation
The source is a single clinical case report. It cannot show how common this path to diagnosis is, or how it compares to other cases. The report walks through the steps doctors used: a pelvic exam, a transvaginal ultrasound, then an MRI to check for a uterus and ovaries. Genetic testing, hormone testing, and targeted Doppler imaging of the groin masses helped confirm the diagnosis. The paper notes that complete androgen insensitivity syndrome is sometimes first mistaken for a different diagnosis, such as Mayer-Rokitansky-Kuster-Hauser syndrome, in some patients. The report does not test or compare treatments. The patient chose to decline surgery and hormone therapy.
RRM Context
A full workup can name complete androgen insensitivity syndrome as the cause of primary amenorrhea. This fits the root-cause approach at the center of restorative reproductive medicine: run the tests and scans needed to name a cause behind the symptoms. The patient's own history shows the same gap. She recalled an earlier finding about her uterus, but not a clear diagnosis, until new testing filled in what was missing.
Abstract
Not required for Clinical Vignette.