Mayer-Rokitansky-Küster-Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female.

Coexistence of Mayer-Rokitansky-Küster-Hauser syndrome and gonadal dysgenesis is extremely rare, and a case of Mayer-Rokitansky-Küster-Hauser syndrome with a uterine cervix and normal vagina has not been reported. Here, we report such a case associated with gonadal dysgenesis. A 17-year-old female presented with primary amenorrhea and undeveloped secondary sexual characteristics. Genital examination revealed a uterine cervix and normal vagina without a uterine body and ovaries. An endocrine study showed hypergonadotrophic hypogonadism. The karyotype was 46,XX. Laparoscopy revealed a rudimentary uterus, normal fallopian tubes and bilateral streak ovaries. There were no other associated malformations. Hormonal substitution therapy was started for development of secondary sexual characteristics and prevention of osteoporosis, but the problem of infertility is unresolved.