MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome

Diagn Interv Radiol. 2013 May-Jun;19(3):227-32. doi: 10.4261/1305-3825.DIR.6341-12.1.


Purpose: The aim of this study was to establish the role of magnetic resonance imaging (MRI) in patients with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS).

Materials and methods: Sixteen female MRKHS patients (mean age, 19.4 years; range, 11-39 years) were studied using MRI. Two experienced radiologists evaluated all the images in consensus to assess the presence or absence of the ovaries, uterus, and vagina. Additional urogenital or vertebral pathologies were also noted.

Results: Of the 16 patients, complete aplasia of uterus was seen in five patients (31.3%). Uterine hypoplasia or remnant uterus was detected in 11 patients (68.8%). Ovaries were clearly seen in 10 patients (62.5%), and in two of the 10 patients, no descent of ovaries was detected. In five patients, ovaries could not be detected on MRI. In one patient, agenesis of right ovary was seen, and the left ovary was in normal shape. Of the 16 cases, 11 (68.8%) had no other extragenital abnormalities. Additional abnormalities were detected in six patients (37.5%). Two of the six had renal agenesis, and one patient had horseshoe kidney; renal ectopy was detected in two patients, and one patient had urachal remnant. Vertebral abnormalities were detected in two patients; one had L5 posterior fusion defect, bilateral hemisacralization, and rotoscoliosis, and the other had coccygeal vertebral fusion.

Conclusion: MRI is a useful and noninvasive imaging method in the diagnosis and evaluation of patients with MRKHS.

MeSH terms

  • 46, XX Disorders of Sex Development / diagnosis*
  • 46, XX Disorders of Sex Development / pathology
  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Adult
  • Child
  • Congenital Abnormalities / diagnosis*
  • Congenital Abnormalities / pathology
  • Diagnosis, Differential
  • Female
  • Genitalia, Female / abnormalities*
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Mullerian Ducts / abnormalities*
  • Mullerian Ducts / pathology
  • Observer Variation
  • Young Adult

Supplementary concepts

  • Mullerian aplasia