Background: Primary amenorrhea can be a sign of either delayed puberty or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Case: A virgin 27-year-old woman with pubertal failure, primary amenorrhea, and uterine hypotrophy due to hypogonadotropic hypogonadism sought treatment at our institution. She was diagnosed as having MRKH syndrome 10 years ago at another institution after pelvic ultrasonography revealed no uterus or ovaries. Unfortunately, no further investigations had been made or treatments implemented during the ensuing decade.
Summary and conclusion: In female patients in whom the uterus cannot be visualized with ultrasonography, magnetic resonance imaging and/or laparoscopy should be considered to ensure that the diagnosis is correct. Besides further imaging, hormonal assessment and breast development should always be initially considered for the diagnosis of delayed puberty and MRKH syndrome.