Infertility is widely known as one of the most common challenges associated with Turner Syndrome, due to premature ovarian failure. As a result, only 2 to 5% of patients who have Turner Syndrome will have spontaneous conception. This usually occurs in those who have the mosaic karyotype. However, this does not mean that women who have Turner Syndrome do not have family planning options.
Throughout the month, we have shared several women’s experiences with starting a family. In this post, we will share statistics, facts you need to know, and resources to learn more. When beginning your journey, reproductive endocrinologists are best suited to provide fertility counseling and family-planning guidance.
While it may not be common for families to start planning for their daughter’s reproductive future so early, it is recommended that fertility preservation be considered in childhood for Turner Syndrome patients. This is so that she might have biological children when the time comes. Girls diagnosed with Turner Syndrome should see specialists, including a reproductive endocrinologist, as early as possible, before ovarian reserves have been depleted. Anti-Mullerian Hormone (AMH) testing can be done to determine the number of eggs left in her ovarian reserve. Premature menopause leads to early loss of ovarian reserve, which is why there is a limited window of time in which fertility preservation can happen.
Non-Mosaic vs. Mosaic Turner Syndrome
Non-mosaic Turner Syndrome patients can begin this process as early as infancy, and mosaic Turner Syndrome patients can often wait until the onset of menstruation. Post-pubertal patients have a limited window of time to pursue fertility preservation. It is important to speak with your health care team to discuss the right timeline for your daughter. Additionally, financial constraints can present a barrier to these procedures. Your reproductive endocrinologist would be the best resource to inquire about financial options. Finally, these processes can be mentally and emotionally taxing on the patient, and it is important that she have access to counseling support.
Always remember that, as a parent, providing family-planning options for when your daughter comes of age is the best thing you can do. It is important not to impose your desires on her, but rather to think ahead so that when she is old enough to discuss family planning, she can consider viable ways to do so.
Fertility Preservation Strategies
There are various methods of fertility preservation, including (see below links for more information):
While it is not common for women who have Turner Syndrome to achieve pregnancy, it is important to know the risks if pregnancy were to happen. Some women do successfully carry a child and give birth with few complications, but each woman’s circumstances are vastly different. The maternal mortality rate for women with Turner Syndrome is 1-2%, 100-200 times greater than for the general population. Here are some facts you should know if you are considering pregnancy, and you should consult your health care team, including a Maternal Fetal Medicine practitioner and a cardiologist in determining your risk.
Pregnancy Risks for Women with Turner Syndrome
Following is a list of potential risks for women with Turner Syndrome. Know the facts so you can make an informed decision about whether pursuing pregnancy is right for you.
- 50% rate of miscarriage
- risk from exacerbation of congenital heart disease and aortic dissection during and after pregnancy; post-pregnancy, 20% of women experience aortic dissection
- frequent complications from conditions like thyroid dysfunction, obesity, diabetes, and hypertensive disorders
- low birth weight, intrauterine growth restriction, and preterm labor and delivery
- hereditary congenital and chromosomal abnormalities in about 50% of babies born to women with Turner Syndrome (Note: there is no increased risk of the child having Turner Syndrome, since it is a random disorder.)
For women who cannot or choose not to carry a pregnancy, adoption and gestational surrogacy are both great options to start a family. A preserved egg from the Turner Syndrome patient can be used, if available. Additionally, donor eggs from a family member, such as a sister or cousin, would still have a genetic connection to the patient, if that is desired. Another option is egg donation from an anonymous donor.
A gestational surrogate is one who does not have genetic connection to the fetus, and thus has no legal rights to the child. Family members sometimes do it for free, while other gestational surrogates receive a fee to carry their child. Only certain states allow this, which means some people use a surrogate from a nearby state where it is legal. If the prospective parents use an out-of-state surrogate, they must adopt the child in their home state after birth. This can be a long and expensive process to navigate, but when it comes to family building, it is rewarding.
Finally, adoption can be done in many different ways. Each state has its own laws that you should familiarize yourself with. There are many considerations for the adoptive parent(s). such as the age and race of the child, etc. You should consult local service providers to discuss your options and to receive guidance through the process. Additionally, you might consider visiting a counselor to discuss your adoption plans, to ensure you are adopting with the right motivation. It should be from a positive desire to start your family and form a family with a child in need, rather than a second choice out of frustration about infertility. Adoption can also be a long and expensive process, but many adoptive parents find it very rewarding.
We have many resources available to help you learn about family planning options: