Müllerian duct agenesis and other congenital anomalies.
The Rokitansky anomalad, although a rare disorder, ranks second as a cause of primary amenorrhea in adolescents. This patient presented with a congenital absence of the vagina and uterus and other associated minor abnormalities. She had primary amenorrhea and asynchronic pubertal development. The syndrome appears to be related to a defect in the paramesonephric ducts with frequent involvement of adjacent structures. This report reviews the syndrome and emphasizes the importance of the chronological sequence of events during female sexual development.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000568:Amenorrhea / Q000209:etiology*; D005260:Female; D006801:Humans; D009095:Mullerian Ducts; D011627:Puberty; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*