Pai Anand, Shakir Mohammad
Department of General Medicine, Aarupadai Veedu Medical College and Hospital, Puducherry, India.
Indian J Hum Genet. 2013 Jan;19(1):113-5. doi: 10.4103/0971-6866.112928.
Mayer-Rokitansky-Kuster-Hauser (MRKH) is a malformation complex comprising absent vagina and absent or rudimentary uterus. MRKH syndrome may be attributed to an initial affection of the intermediate mesoderm consequently leading (by the end of the 4(th) week of fetal life) to an alteration of the blastema of the cervicothoracicsomites and the pronephricducts. These latter subsequently induce the differentiation of the mesonephric and then the Wolffian and Mullerian ducts. There are very sparse such cases reported. We present a case of type II MRKH or Mullerian renal cervical somite association (i.e., Mullerian duct aplasia, renal dysplasia, and cervical somite anomalies).
迈耶-罗基坦斯基-库斯特-豪泽综合征(MRKH)是一种畸形综合征,包括阴道缺如以及子宫缺如或发育不全。MRKH综合征可能归因于中胚层的初始病变,从而(在胎儿期第4周结束时)导致颈胸节段和原肾管的胚基发生改变。后者随后诱导中肾管以及随后的沃尔夫管和苗勒管的分化。报道的此类病例非常稀少。我们报告一例II型MRKH或苗勒管-肾脏-颈节段联合症(即苗勒管发育不全、肾发育异常和颈节段异常)。