Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is an anomaly that belongs to class I Mullerian duct anomalies.

There are two different form of this syndrome:

  • the typical form (type A) of this syndrome is characterised by the congenital absence of the uterus and upper 2/3 vagina with normal ovaries and fallopian tubes
  • the atypical form (type B) of the syndrome includes associated abnormalities of the ovaries and fallopian tubes and renal anomalies

It has a reported incidence of ~1:4000-5000 live female births.

Clinical presentation is characterised by primary amenorrhoea, with normal hormonal levels guaranteed by fully functional gonads. At times cyclic pelvic pain may be present in the post-pubertal period due to an accumulation of haemorrhagic material within uterine buds with a functioning endometrium.

The anomaly is thought to arise during embryogenesis, with arrested development of the paramesonephric ducts at ~7 weeks after fertilisation.

MHKH syndrome is generally characterised by normal external genitalia and absence or reduced development of the uterus and upper two-thirds of the vagina.

The fallopian tubes, uterus, cervix and upper ¾ of vagina develop from Müllerian ducts between the 8th-12th gestational week. A developmental defect occurring at this stage leads to agenesis of Müllerian structures. The development of kidneys, ureter, and bladder occurs concomitantly at around 6th-12th week of gestation. The presence of residual components such as a blind vaginal pouch and a rudimentary uterus (non-functioning myometrial tissue), which are noted in a significant proportion of patients.

The syndrome is often associated with alterations in the urinary or skeletal system which include:

Although hysterosalpingography has a well-established use in characterising uterine Mullerian duct anomalies, it has no place in MRKH syndrome given the hypoplasia/agenesis of the uterus and 2/3 of vagina.

US usually will show an absent uterus and normal ovaries. Also, it will demonstrate any associated renal tract anomaly. 

It is the imaging modality of choice after an initial assessment with ultrasound, allowing the characterisation of the uterine buds and presence of functioning endometrium within them. 

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Article information

rID: 10786
System: Gynaecology
Synonyms or Alternate Spellings:
  • Mayer-Rokitansky-Küster-Hauser
  • MRKH
  • MRK
  • Mayer-Rokitansky-Küster
  • MRKH syndrome
  • Mayer-Rokitansky-Küster syndrome

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Cases and figures

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    Case 1: sagittal T2
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    Axial T2 pelvis

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    Case 2: axial T2
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    Case 3: MRKH and renal agenesis
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    Case 4
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    Case 5
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    Case 6: with crossed fused renal ectopia (CT)
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    Case 7
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    Case 8
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    Case 9
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