Fertility Preservation By Ovarian Stimulation and Oocyte Cryopreservation in a 14-year-old Adolescent with Turner Syndrome Mosaicism and Impending Premature Ovarian Failure

Oktay, K., Rodriquez-Wallberg, K. A., & Sahin, G. (2010). Fertility preservation by ovarian stimulation and oocyte cryopreservation in a 14-year-old adolescent with Turner Syndrome mosaicism and impending premature ovarian failure. Fertility and Sterility; 94 (2), 753e15 – 753e19.

 

I chose to present this article in conjunction with my case presentation of a newborn in the NICU with Turner Syndrome mosaicism (3rd write-up in the Rotation 4 H&Ps). This article is a case presentation, which is typically a lower level of evidence than desired, but given the low prevalence of Turner Syndrome and the mosaic variant, I felt that this was acceptable. The case centers on a 14-year-old female diagnosed with Turner Syndrome mosaicism at the age of 13 secondary to short stature and delayed menarche. An abdominal ultrasound revealed that her ovaries were viable and had follicles, but, as is typical with her condition, she was at risk of premature ovarian failure. With concerns about preserving her fertility, she and her family chose to undergo two cycles of ovarian stimulation with Loestrin, an oral contraceptive, within one year. Following the stimulation, several mature and immature oocytes were harvested and cryopreserved to potentially be used in future IVF procedures.

Of course, the researchers acknowledged that due to the low volume of available data, there is limited reliability that IVF would be successful in a woman with Turner Syndrome. Additionally, due to the potentially life threatening cardiac and renal complications associated with Turner Syndrome, it is possible that a pregnancy for the patient in the case study would be much more dangerous than for a woman with completely intact chromosomes.

This case report is one of a handful that centers on oocyte cryopreservation in women with Turner Syndrome mosaicism, and all appear to show the same level of success in the preservation of the oocytes to preserve fertility in the event of premature ovarian failure. This study is limited because it only focuses on one patient, but as I mentioned, the rarity of the condition allows for this limitation.