What is the algorithm for diagnosing amenorrhea with genital tract abnormalities?

Updated: Jan 08, 2019
  • Author: Kristi A Tough DeSapri, MD; Chief Editor: Richard Scott Lucidi, MD, FACOG  more...
  • Print
Answer

Obtain a pelvic sonography. If the uterus is absent and the vagina foreshortened, obtain a karyotype. If the karyotype is 46,XY, obtain testosterone levels.

If testosterone levels are within reference range or are high (male range), the cause is androgen insensitivity or 5-alpha-reductase deficiency. Surgical gonad removal is recommended in patients with androgen insensitivity. If testosterone levels are within reference range or are low (female range), the cause is testicular regression or gonadal enzyme deficiency. Surgical gonad removal is recommended.

If the karyotype is 46,XX, the cause is Müllerian agenesis (ie, Rokitansky-Kuster-Hauser syndrome).


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!