Background: Turner syndrome (TS) is the most common sex chromosome anomaly. Spontaneous pregnancies have been reported in a small percentage of women with TS, particularly those with mosaicism. However, due to accelerated follicular atresia, the majority of TS patients undergo ovarian failure prior to or around the time of puberty. In vitro fertilization with donor oocytes and subsequent embryo transfer has been the predominant fertility option for such patients. We report a case of oocyte cryopreservation for a patient with mosaic TS including the evaluation, treatment decisions and ovarian response.
Case: A 28-year-old woman with mosaic TS and oligomenorrhea chose oocyte cryopreservation for fertility preservation. Ovarian reserve testing revealed a day 3 FSH of 4.3 mIU/mL and an antral follicle count of 40. She underwent controlled ovarian stimulation and had a vigorous response to a gonadotropin/gonadotropin-releasing hormone antagonist protocol, with a peak estradiol level of 4507 pg/mL. Transvaginal oocyte retrieval produced 15 oocytes, 13 of which met the criteria for vitrification.
Conclusion: Oocyte cryopreservation offers TS patients a new option to preserve future fertility; however, this new technology requires extensive counseling regarding not only its investigational nature but also risks specific to it and implications for this patient population.