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Mayer-Rokitansky-Kster-Hauser syndrome

Dr Jeremy Jones and Dr Saqba Farooq et al.

Mayer-Rokitansky-Kster-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 characterized by 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.

Epidemiology
It has a reported incidence of ~ 1: 4000 - 5000 female live births 2.

Clinical presentastion
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 accumulation of haemorrhagic material within uterine buds with a functioning endometrium.

Pathology
The anomaly is thought to arise during embryogenesis, with arrested development of the paramesonephric ducts at ~ 7 weeks after fertilisation. The MRKH 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 of vagina develop from Mllerian ducts between the 8th - 12th gestational week. A developmental defect occurring at this stage leads to agenesis of Mllerian structures. The development of kidneys, ureter, and bladder occurs concomitantly at around 6th- 12th week of gestation. Presence of residual components such as a blind vaginal pouch and a rudimentary anlagen of the uterus (non-functioning myometrial tissue), which are noted in significant proportion of patients.

Associations

The syndrome is often associated with alterations of the urinary or skeletal system which include.

vertebral anomalies : may be present in ~ 10% of cases 7. renal anomalies : such as renal agenesis, ectopic kidney, fused kidney, renal hypoplasia, and horseshoe kidney may seen in 30 - 40 % of MRKH patients 4,8.

See also

MURCS association

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