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If it ain't broke, don't fix it : A case of premature ovarian failure, Fragile X, embryo banking, and frozen embryo transfer

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  • Written By: Hanabusa IVF

Despite being across the country, a number of patients from my prior IVF center still consult with me regarding their treatment. One of these patients is AD.

AD came to me when she was 32 years old. She had been diagnosed with premature ovarian failure (POF) and her last natural period had been 5 years earlier. As with many others who have POF, AD is a carrier of the pre-mutation of the Fragile X gene. Except for 1 REI (Dr. A), all the specialists she saw recommended that she go the donor egg route. Dr. A is one the few physicians that I know who understands how to manage POF/DOR (diminished ovarian reserve). He was able to manipulate her hormones to allow her to ovulate and perform 2 IUI’s. Unfortunately, Dr A does not perform IVF in these cases.

With DOR/POF, the problem with more conservative treatments such as timed intercourse or IUI is that the treatments that help with follicular development do not necessarily also help with the development of an ideal implantation environment. With IVF and embryo freezing, we can focus on optimizing each step separately.

AD came to me because I am able to perform IVF in these situations. As is to be expected in this situation, AD’s FSH was elevated (over 50 mIU). While this could simply indicate that there were “no eggs left,” if there were a few eggs remaining, an elevated FSH could result in Overstimulation syndrome, when FSH is so elevated that viable follicles shut down and stop growth. Unfortunately, there are no tests that can definitively determine whether or not viable eggs still remain, so I started her on a hormone suppression treatment to bring down her FSH levels. Responses to this kind of treatment can be unpredictable, sometimes taking days, sometime taking months, and sometimes not working at all. Fortunately, after 2 months, a follicle developed and we were able to retrieve an egg under local anesthesia.

Since AD was relatively young, the egg fertilized well and developed into a 4-cell embryo which we froze on Day-2. As you may know, we usually recommend culturing embryos for 5-7 days so that they can reach a the blastocyst stage and we can better ascertain embryo quality. However, because this could have been AD’s last egg, there was no way I was going to take that risk.

We could have easily done a transfer at this point, but there was still a risk that AD could enter menopause at anytime and we would not have another opportunity to retrieve an egg, so we continued this process for the next year and were, encouragingly, able to freeze 2 more embryos at Day 2. AD decided that it was time to transfer. Although I prefer natural cycle transfers, for a patient like AD, that wasn’t going to be the most optimal route, so we decided to treat with a minimal hormone replacement cycle using oral estrogen and vaginal progesterone… and success! Well, almost. AD got pregnant, but ended up miscarrying at 8 weeks. At this point, AD needed a break, but, fortunately she had 2 more opportunities left.

At this point, I left for San Diego.

About 6 months into my tenure here at Hanabusa IVF, I received an e-mail from AD. She had been trying to transfer but her doctors were unable to achieve an adequate lining so she contacted me for advice. I reviewed the notes that she sent me and saw that, although her current treatment was similar to the treatment we had used, it had some small differences. Now, I know that not every treatment plan (even normally successful ones) is necessarily going to be successful for everyone. In AD’s case, we had a treatment that worked for getting her pregnant the first time we tried and there was no reason to change it. “If it ain’t broke, don’t fix it.”

I gave AD a recommended treatment plan that replicated our first transfer cycle… and lo and behold, her lining developed as it did before and a few weeks later I received the good news that AD was well into her pregnancy. Of course, there are still a number of hurdles that must be overcome, the primary one being Fragile X expansion, but so far so good and I am rooting for you, AD!