Gonadal dysgenesis and Rokitansky syndrome. A case report

Primary amenorrhea and lack of sexual development occur in gonadal dysgenesis due to missing ovaries. Primary amenorrhea with sexual development occurs in Rokitansky syndrome due to absence of the uterus, with normal ovarian function. The association of these two conditions has been previously described as a rare event.

A 19-year-old woman presented with primary amenorrhea and lack of secondary sexual characteristics. Physical examination confirmed the absence of mammary development and of pubic and axillary hair. Pelvic ultrasound disclosed absence of the uterus and ovaries. Gonadotropin serum levels were in the menopausal range, and the karyotype showed two mosaic cell lines, 45,X/46,Xdic(X). Scanning of a large number of cells by interphase fluorescence in situ hybridization showed 12% of cells with a dicentric X chromosome. Laparoscopic study confirmed the absence of the uterus and ovaries, with normal fallopian tubes.

This patient had two anomalies affecting reproductive performance, gonadal dysgenesis and congenital absence of the uterus, the first associated with an abnormal karyotype; the second seems to have occurred coincidentally. At this time there is no treatment for the reproductive dysfunction.