The Rokitansky-Kuster-Hauser syndrome with chromosome XO/XX mosaicism (single pelvic kidney)

A case of Rokitansky-Kuster-Hauser syndrome and Turner syndrome association is reported. Alongside vaginal aplasia and rudimentary uterus (typical of Rokitansky-Kuster-Hauser), the patient in fact presented XX/XO type chromosome mosaicism with 20% positivity of sexual chromatin. The rarity of the association between phenotypical features identifying Rokitansky-Kuster-Hauser syndrome and gross genetic changes suggested that the case deserved reporting. A depth urological diagnosis also pointed to the existence of a large solitary pelvic kidney.