Fertility beyond genetics in Turner Syndrome

Introduction: In Turner Syndrome (45XO) and Turner mosaicism, fertility is reported to be extremely low. We encounter premature menopause, due to premature ovarian failure. When these patients conceive spontaneously, such pregnancies have an increased percentage of abortions, malformations and stillbirths. These patients should be counseled for prenatal genetic testing. Material and Methods: We discuss the case of a patient with Turner mosaicism (45XO,46XX), who successfully conceived due to IVF procedures. Results: The patient, a women with Turner mosaicism encountered secondary amenorrhea due to premature menopause. Because of her diagnosis she was proposed for IVF with egg-donation. She was on HRT for two years before. At the time of embryo-transfer her endometrium was prepared with estrogens and progesterone. The embryo-transfer was done at 48 hours and the patient received two of the four embryos; the other two embryos were frozen. An HCG done at 14 days after embryo-transfer revealed no pregnancy. After two months she decided to have another embryo-transfer with the frozen embryos. The endometrium was prepared in the same manner. This time an intrauterine pregnancy was reveled on vaginal ultrasound. The patient denied genetic tests; she had an uneventful pregnancy and delivered a healthy baby at term. Conclusion: The new techniques of in vitro fertilization have proved very useful for patients with Turner syndrome and Turner mosaic syndrome. Oocyte donation can be an optimal alternative. This can be a way to manage infertility in these cases.