Mayer-Rokitansky-Küster-Hauser syndrome 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 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 female live 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-puberal 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.
Mayer-Rokitansky-Küster-Hauser 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 significant proportion of patients.
The syndrome is often associated with alterations in the urinary or skeletal system which include:
- vertebral anomalies: may be present in ~10% of cases
- renal anomalies: such as renal agenesis, ectopic kidney, fused kidney, renal hypoplasia, and horseshoe kidney may be seen in 30-40% of patients with the syndrome 4
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- Preibsch H, Rall K, Wietek BM, et al. Clinical value of magnetic resonance imaging in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: diagnosis of associated malformations, uterine rudiments and intrauterine endometrium. Eur Radiol. 2014;24(7):1621-7.