Rokitansky syndrome and MURCS association--clinical features and basis for diagnosis

To describe 19 cases with Rokitansky syndrome, as well as their endocrine features, and other associated malformations.

Nineteen cases of utero-vaginal atresia are reported. Serum levels of luteinizing hormone, follicle stimulating hormone, prolactin, estradiol, and progesterone were measured. Genetic study was done by karyotype and X chromatin. Pelvic ultrasound was performed, and searches for associated urinary and bone malformations were done by intravenous pyelogram and spinal column X-rays, respectively.

In all patients, mammary growth began between 9 and 12 years, and pubic hair growth between 11 and 14 years. Nine of them sought advice for primary amenorrhea, and 10 for difficulty in sexual intercourse. Thirteen patients had begun sexual activity, between 18 and 30 years of age; six of them had dyspareunia, and in four it was impossible to have sexual intercourse, but three reported satisfactory sexual relations. External genitalia were normal in all, vaginal length was between 0.5 and 7 cm, and in all ended in a blind pouch. On pelvic ultrasound, normal ovaries and absent uterus were delineated; only one had polycystic ovaries. All had a 46XX karyotype and positive X chromatin. Hormone levels were normal in 16, 3 had hyerprolactinemia. In 7 out of 11 in whom progesterone was measured, it was ovulatory. In 8 out of 11, the pyelogram was abnormal, and in the same number, skeletal anomalies were found.

In three patients, MURCS association was documented. It is proposed as an easy and minimally invasive study protocol for diagnosis.