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

Objective-To describe 19 cases with Rokitansky syndrome, as well as their e ndocrine features, and other associated malformations. Methods-Nineteen cas es of utero-vaginal atresia are reported. Serum levels of luteinizing hormo ne, follicle stimulating hormone, prolactin, estradiol, and progesterone we re measured. Genetic study was done by karyotype and X chromatin. Pelvic ul trasound was performed, and searches for associated urinary and bone malfor mations were done by intravenous pyelogram and spinal column Xrays, respect ively. Results-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. Thirt een 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 inte rcourse, but three reported satisfactory sexual relations. External genital ia 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 ute rus were delineated; only one had polycystic ovaries. All had a 46XX karyot ype and positive X chromatin. Hormone levels were normal in 16, 3 had hyerp rolactinemia. In 7 out of 11 in whom progesterone was measured, it was ovul atory. In 8 out of 11, the pyelogram was abnormal, and in the same number, skeletal anomalies were found. Conclusions Tn three patients, MURCS associa tion was documented. It is proposed as an easy and minimally invasive study protocol for diagnosis.