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Mayer-Rokitansky-Küster-Hauser syndrome

Case contributed by Mauricio Macagnan
Diagnosis almost certain


Amenorrhea. Dysplastic alteration of the thoracolumbar spine.

Patient Data

Age: 20 years
Gender: Female

Uterus and proximal vaginal canal (upper 2/3) are unidentified (agenesis).
There is a tubular image, probably corresponding to the distal vaginal remnant.

The ovaries are normal-appearing.

Arthrodesis of the thoracolumbar spine, with transpedicular rods and screws in L3 and L4.
Dorsolumbar scoliosis with curvature to the left and rotation of vertebral bodies.
Congenital deformity of the vertebral column, with marked hypoplasia and probable fusion of the vertebral bodies of L1 to L4, with craniocaudal elongation and reduction of the anteroposterior diameter of the vertebral bodies.
Hypoplasia of intervertebral discs of L4-L5 and L5-S1.

Absence of uterus and 2/3 thirds proximal of vagina (the outlined structures are absent).

Normal ovaries.

Case Discussion

The Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is characterized by congenital aplasia of the uterus and 2/3 of the upper vagina in women with normal development of secondary sexual characteristics and a normal karyotype. The two structures have their origins from Mullerian tissue (ovaries arise separately from the gonadal ridge).

The syndrome can be thought of as two types:

  • type I: agenesis of the uterus and the upper portion of the vagina
  • type II: an association of renal defects, vertebral and, to a lesser extent, to auditory and cardiac alterations (MURCS)

The first clinical sign of the syndrome is a primary amenorrhea in young women with normal development of secondary sexual characteristics and normal external genitalia, with normal and functional ovaries, in addition to karyotype 46, XX.

This case was kindly provided by Dra. Luciane Schuller.

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