Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed by magnetic resonance imaging. Role of imaging to identify and evaluate the uncommon variation in development of the female genital tract

J Radiol Case Rep. 2012 Apr;6(4):17-24. doi: 10.3941/jrcr.v6i4.992. Epub 2012 Apr 1.


Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a spectrum of Müllerian duct anomalies characterized by congenital aplasia of the uterus and of the upper part (2/3) of the vagina, in young women presenting otherwise with normal endocrine status. The ovaries and fallopian tubes are present. It is one of the most common causes of primary amenorrhea and affects at least 1 out of 4500 women. Its penetrance varies, as does the involvement of other organ systems and itcan be isolated (type I) or associated with other malformations (type II). The MRKH syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal development of secondary sexual characteristics, so imaging evaluation can demonstrate in one setting, non invasively, the anomalies in development of genital tract. We report a case of MRKH syndrome in a 16-year-old woman who presented with primary amenorrhea, stressing the role and benefit of imaging in the differential diagnosis.

Keywords: Mayer-Rokitansky-Kuster-Hauser; Müllerian abnormalities; amenorrhea; infertility; pelvic magnetic resonance; vaginoplasty.

Publication types

  • Case Reports

MeSH terms

  • 46, XX Disorders of Sex Development / diagnosis*
  • 46, XX Disorders of Sex Development / diagnostic imaging
  • 46, XX Disorders of Sex Development / surgery
  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / surgery
  • Adolescent
  • Amenorrhea / etiology
  • Congenital Abnormalities
  • Diagnosis, Differential
  • Female
  • Humans
  • Kidney / abnormalities
  • Magnetic Resonance Imaging*
  • Mullerian Ducts / abnormalities
  • Somites / abnormalities
  • Spine / abnormalities
  • Ultrasonography
  • Uterus / abnormalities
  • Uterus / diagnostic imaging
  • Uterus / surgery
  • Vagina / abnormalities
  • Vagina / diagnostic imaging
  • Vagina / surgery

Supplementary concepts

  • Mullerian aplasia