Question: I am seeking information regarding the treatment and postoperative management of Rokitansky syndrome. My 17 year-old daughter was recently diagnosed with this disorder, and we need help deciding what the treatment options, and the postoperative outcome may be.

Answer: I have some comments that may be helpful to you regarding the question that you posed. As you indicated, Rokitansky syndrome is a genetic disorder that is associated with the vaginal atresia (malformed vagina) with or without absence of the uterus. This syndrome belongs to a spectrum of genetic defects that induce anomalies in the reproductive tract. Some of these anomalies are associated with other defets such as absence of one or both kidneys. Therefore, by getting expert clinical advice you should make sure that your daugther does not carry any other anomalies. Absence of vagina or uterus would not interfere with the sexual development of the individual. Therefore, your daughter should have a normal life even in the absence of vagina or uterus. For the reconstructive surgery, you should seek the help of a surgeon who is specialized in the reconstructive surgery who can correct the anomaly in the reproductive tract of your daugther, Currently, the vagina can be reconstructed, however, I am not aware of any reconstructive surgery of the uterus. The vagina is needed for the sexual intercourse. Therefore, the decision as to when get the reconstructive surgery done entirely depends on you and your daughter. If your daughter does not want to be sexually active, then, you can postpone the procedure until she is both emotionally and physically ready. Since, most if not all of the sexual pleasure, is derived from the clitoris rather than the vaginal stimulation, your daughter should be able to have a normal sex life. Your daughter should also have no problem in becoming a mother. If the ovaries of your daughter are working properly, then, your daughter should have no problem in producing normal eggs. When the time is right, your daughter should seek the help of experts in infertility. Retrieval of eggs is a common procedure in the infertility clinics. The retrieved eggs can be exposed to the sperms of her husband in a Petri dish and they will be allowed to fertilize the eggs. Since your daughter does not have a uterus and as I mentioned, currently there is no procedure for reconstructing a uterus, the fertilized egg(s) has to be placed in the uterus of a surrogate mother. Genetically, a child born from the surrogate mother is truly the child of your daughter and her husband and will inherit the genes from her parents including the defective gene that has caused the disease of your daughter. Unfortunately, the defective gene may be autosomal dominant. In this case, the effect of the defective gene is going to be manifested in the daughter of a mother who carries the gene. Therefore, I would recommend that if your daughter wishes to have a child, she should discuss the problem with a geneticist. I hope that my explanation would suffice and would enable you and your daughter to make the right decisions. The following is a partial list of pertinent references.