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 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.
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 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.
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 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. 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.
The syndrome is often associated with alterations of 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 seen in 30-40% of MRKH patients 4.
- 1. Strübbe EH, Willemsen WN, Lemmens JA et-al. Mayer-Rokitansky-Küster-Hauser syndrome: distinction between two forms based on excretory urographic, sonographic, and laparoscopic findings. AJR Am J Roentgenol. 1993;160 (2): 331-4. AJR Am J Roentgenol (abstract) [pubmed citation]
- 2. Russ PD, Allen-davis JT, Weingardt JP et-al. Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed by magnetic resonance imaging in a 15-year-old girl. J Pediatr Adolesc Gynecol. 1997;10 (2): 89-92. - Pubmed citation
- 3. Pompili G, Munari A, Franceschelli G et-al. Magnetic resonance imaging in the preoperative assessment of Mayer-Rokitansky-Kuster-Hauser syndrome. Radiol Med. 2009;114 (5): 811-26. doi:10.1007/s11547-009-0407-5 - Pubmed citation
- 4. Fedele L, Dorta M, Brioschi D et-al. Magnetic resonance imaging in Mayer-Rokitansky-Küster-Hauser syndrome. Obstet Gynecol. 1990;76 (4): 593-6. - Pubmed citation
- 5. Saleem SN. MR imaging diagnosis of uterovaginal anomalies: current state of the art. Radiographics. 23 (5): e13. doi:10.1148/rg.e13 - Pubmed citation
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