Failure of mullerian duct development. The Mayer-Rokitansky-Kuster-Hauser syndrome

A 3 year old girl with this syndrome is described. She presented with bilateral inguinal hernias containing palpable gonads. She was found to have total absence of vagina, absence of uterus, Fallopian tubes and right kidney. She had an ectopic left kidney and spinal abnormality. Chromosome analysis revealed normal 46 XX karyotype and the gonads were histologically normal ovaries. The Mayer-Rokitansky-Kuster-Hauser Syndrome is a failure of development in part or whole of the paramesonephric (Mullerian) duct, and sometimes of part of the mesonephric (Wolffian) system. This results in absence of uterus, tubes, cervix uteri and usually the whole vagina. The syndrome is contrasted with testicular feminization in which the patient has an XY karyotype, has no uterus or tubes but usually a shallow vagina.