Turner Syndrome and Fertility: Act Early!

While infertility is one of the primary symptoms of Turner Syndrome (TS), fertility treatments can help some patients, primarily those with mosaic TS. In this post, we summarize and discuss the article “Importance of early and precise ascertainment of mosaic TS for fertility preservation and assisted reproduction counseling,” by Borini and Coticchio, which is an overview of the study by Giles et al. “PGT-A (preimplantational genetic screening) in patients with partial X monosomy using own oocytes: is a suitable indication.” 

Note: Everyone’s medical situation is different. If you or a loved one with TS are considering infertility treatment, please talk to your doctor about the treatments available and risks involved.

Impact of Turner Syndrome on Fertility

Many women and girls wish to have a family of their own, but a diagnosis of TS often makes them wonder if that dream can ever become a reality. Spontaneous pregnancy occurs in a small percentage of individuals with TS and generally is more likely in women with mosaicism and those who report spontaneous puberty (less than 20%) and a regular menstrual cycle. Individuals with TS are also at a higher risk for pregnancy complications, particularly related to aortic dissection.

Infertility can cause a mix of emotions: sadness and loss from knowing that infertility is common with the condition, but also relief from understanding why their body is acting the way it is. Learning about the types of fertility treatments and counseling can help them continue their dreams of growing a family. It can also give them comfort as they come to understand how their family may be different from other families.

If you or a loved one have just received a TS diagnosis, it is crucial for you to have a clear understanding of two fertility treatments (OD and PGT-A; see below for more details) and the financial implications of fertility treatments in general. With more background knowledge, you will be in a better position to have discussions with your loved ones and/or your medical professionals. Even if you are not in this specific situation, it is important as allies of the TS community to spread awareness and advocate for its needs around the issue of fertility


Women with TS experience significant challenges in getting pregnant and carrying a pregnancy to term. The study focused on women with mosaic TS (where some cells in the body have both X chromosomes while others lack all or part of the second X chromosome). Women with mosaic TS can vary in how much difficulty they have in conceiving, from hardly any problems at all to numerous obstacles. A comparison is made between two types of fertility treatments: preimplantation genetic testing for aneuploidy (PGT-A) and oocyte donation (OD) with the conclusion that OD is the superior method (see below for more details).

Fertility Treatments (PGT-A and OD)

Preimplantation genetic testing for aneuploidy (PGT-A) is typically done when a woman is pursuing in-vitro fertilization (IVF). A PGT-A test can be done on one or two cells from an embryo before it is transferred to the woman’s uterus. The test checks the number of chromosomes present in the embryo, so that an embryo with a typical number of chromosomes can be chosen for implantation.

Oocyte donation (OD) is when one woman provides an oocyte–commonly referred to as an “egg”—so that another woman can conceive as part of an assisted reproduction treatment.


Why Early TS Diagnosis Is Important

Women with TS are at high risk for a condition called primary ovarian insufficiency. This is when a woman’s ovaries stop working normally at an earlier age than is typical. Many women with TS also run out of eggs before adulthood. Both of these possibilities make it crucial for consultation with a fertility doctor to occur as early as possible. If you or a young loved one has just been diagnosed with TS, time is of the essence in seeking fertility counseling. If possible, mature oocytes or embryos can be stored for the future using cryopreservation (“freezing”). Oocyte preservation has been performed in children with TS as young as 13. Ovarian tissue cryopreservation is another option that is being investigated.

Cost of Fertility Treatment

Not surprisingly, these procedures and the storage of oocytes and embryos are very expensive:

Oocyte Extraction

Oocyte Storage


$300-500 per year

Embryo IVF

Embryo Storage


$400-600 per year

Health insurance typically does not cover fertility treatments, so if you or a loved one have received a TS diagnosis, you will need to start saving money early.

Importance of Early Action

The challenges women with TS face in starting a family can be very daunting, but there are many treatment strategies that may be helpful. The important thing to realize is that much of the research and financial planning for fertility treatments must be started many years before you or your loved one hopes to have a baby. If an individual receives a TS diagnosis was early, they, their parents, or their caretakers should work together to determine which path is the best.

TSF Webinar

webinar- reproductive issues and options in TS

To learn more about how TS can affect fertility and how to keep the dream of having a family alive, watch the free webinar “Reproductive Issues and Options in TS.” This webinar is specifically geared towards helping women with TS who wish to have biological children.

Dr. Peter McGovern presented a webinar covering the topics of hormones, fertility preservation, pregnancy concerns, and more for women with TS. Dr. McGovern is a reproductive endocrinologist, and was a contributing faculty member of the TSF Council on Infertility. He co-authored  “Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines” (see the link below).

A recording of this free webinar is available to view here.

Takeaway: What You Can Do Now

Written by Catherine Martin, TSF volunteer blog writer. Edited by Liz Donner, TSF volunteer blog editor, and Susan Herman, TSF volunteer lead blog editor. Infographic by Jasmine Persaud.




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©Turner Syndrome Foundation 2021

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