Turner Syndrome Foundation
This post contains sensitive information about reproductive health and infertility. Some of the information may not be suitable for young readers. In this post, we will delve into reproductive health and Turner syndrome, with a particular focus on Dr. Gwendolyn Quinn’s (NYU Langone Health) insightful speech on the subject. We will explore the significance of this speech, the new data presented, and the importance of making informed choices when it comes to reproductive health, which empowers individuals to live fulfilling lives. Additionally, we will highlight the option of choosing a child-free lifestyle and have a FAQ section at the end to address commonly asked questions!
General Overview of Reproductive Health in TS
Dr. Quinn stresses the fact that fertility is just one part of reproductive health, and that other parts are equally important. These include sexual health, contraception, romantic partnering, and the prevention of disease and infection. She says that it’s important to have open conversations about these topics, especially for those with impaired fertility or who know that they can’t or shouldn’t carry a pregnancy, as it can impact their self-esteem and body image. Regardless of fertility, there should still be an ongoing conversation about contraception, not necessarily for preventing pregnancy, but for preventing disease and infection. Another thing people of reproductive age need to think about is the HPV vaccine, which is another way to prevent cervical cancer and potentially head and neck cancers that might be spread through sexual contact.
Fertility Concerns & Pregnancy in TS
Individuals with TS may have difficulty conceiving, and if they do, there’s a high rate of miscarriage and genetic abnormalities in their babies. Some individuals with TS may menstruate, but they may still have premature ovarian insufficiency (a loss of normal function of the ovaries before age 40), which can lead to menopausal symptoms and other health issues. Hormone replacement therapy may be recommended to manage these symptoms. There’s now an option for pre-pubertal and post-pubertal individuals to preserve fertility through several options:
- Anti-mullerian hormone (AMH) testing can give an indication of ovarian reserve (how many eggs you have), but it may not be accurate for those who have been taking oral contraceptives.
- Individuals who are ovulating and producing eggs can freeze their eggs through a process called oocyte cryopreservation, and these frozen eggs can be used for pregnancy later on.
- Ovarian tissue cryopreservation is a surgical procedure where an entire ovary is removed, stored, and later reimplanted to regenerate ovarian function.
Donor eggs can also be used for pregnancy, either from a family member or an anonymous donor. Embryos can also be created using the patient’s own eggs or a donor’s and their partner’s or donor’s sperm. They can also be carried by a gestational carrier (surrogate). The best path is to consult with a reproductive endocrinologist for fertility counseling and family building options. Regarding pregnancy, there are better pregnancy rates in individuals who use donor eggs. Those with TS may be advised against getting pregnant as it may complicate ongoing problems related to cardiac issues, thyroid problems, metabolism and obesity. Close monitoring is recommended for these women both during and after pregnancy.
Counseling & Ethics
Dr. Quinn states that the consensus among experts in Europe regarding the psychosocial issues related to fertility and childbearing in Turner syndrome was based on the four principles approach: Autonomy (acknowledge a person’s right to make their own choices), beneficence (act in the patient’s best interest), non-maleficence (do no harm), and justice. They ranked and rated various statements based on input from people with Turner syndrome and parents of children with TS. The top-rated statement was that patients at risk of premature ovarian insufficiency should have equal access to counseling and fertility preservation options. Patients with TS rated infertility as their primary concern, and infertility in individuals may lead to depression and anxiety. There was disagreement on whether people with Turner syndrome should be included in the consent process regardless of age, and also on whether ovarian tissue preservation should be discussed with them after psychological and cardiac screening. The use of assisted reproductive technology (ART) involves many choices such as ovarian tissue cryopreservation or using a gestational carrier. These choices can be overwhelming and often made in combination with a partner.
There are also ethical issues with minors making decisions about fertility preservation and family building, as sometimes they may change their minds when they are older. There can also be battles over embryos when relationships end. Ultimately, it’s okay for someone to choose to adopt or to decide not to have children.
Child-Free Living Choice
Dr. Quinn brings an end to her speech by mentioning that “it’s perfectly ok to have a life without children.” It is completely up to the individual if they want to lead a fulfilling life without having children, even though there is significant societal pressure to do so. People may believe that a family requires having children, but this is not necessarily the case for everyone. It is crucial not to impose societal expectations on individuals, especially young people.
Dr. Quinn talks about a variety of subtopics surrounding reproductive health in Turner syndrome, starting off with a general overview and then leading into discussing fertility concerns/pregnancy, ethics, adoption and child-free living. To view the webinar, visit: https://turnersyndromefoundation.org/webinar-recording-discussing-infertility-1-13-2021/
FAQ
A majority of girls with TS do not spontaneously go through puberty and will experience premature ovarian failure, at which time hormone replacement therapy will become necessary. One of the most distressing reproductive health issues associated with Turner syndrome is the decreased ability to become pregnant, which is the case for nearly every woman with TS and premature ovarian failure.
Feminization/Reproductive Health
How long will my daughter be on estrogen treatment for?
- Typically, estrogen therapy lasts until menopausal age, and then she would be slowly weaned off the therapy.
Is there an increased risk for breast cancer while on Hormone Replacement Therapy (HRT)?
- There is no evidence that shows an increased risk of breast cancer while receiving HRT. (The risk of breast cancer is generally lower for individuals with TS)
Beyond initial development, what are other benefits to being on this treatment?
- HRT provides many cognitive benefits such as improved motor speed and performance. It also helps to improve maturation and bone health (osteoporosis is a very large issue that many with TS face). HRT also helps to maintain uterine health and keep it vital, as well as improve overall sexual life.
Pregnancy
In-vitro fertilization – IVF? Donor ova? Adoption? Why or why not?
- In most cases, pregnancy is not recommended for people with Turner syndrome due to the elevated risk. The increased blood volume incurred in pregnancy heightens the risk of aortic dissection in the mother, which can be fatal. Many successful pregnancies, however, have occurred via IVF with careful follow up with the reproductive specialists. Adoption offers the least risk to the mother.
Are there any circumstances in which pregnancy is contraindicated?
- Heart issues, as mentioned above, as well as kidney issues provide a contraindication for pregnancy.
Anecdotal evidence found on the internet suggests that women with Turner syndrome can and do carry a pregnancy via a variety of methods. Does maternal risk increase with age?
- If heart/aortic problems exist or have become more evident, the risk certainly increases. Weight gain, prior to pregnancy, can also be problematic since many TS women have difficulty maintaining a healthy weight. If, however, other factors have been adequately treated (i.e. hypothyroidism, calcium issues, etc.), then the risks would increase equally to those without TS.
If I already have a child with Turner syndrome, what is the risk of it occurring again in future pregnancies?
- Turner syndrome occurs randomly, so having a child with TS will not increase the risk of it occurring again in a future pregnancy. A geneticist may assist you in providing additional information.
Written by Ritu Karasapu, TSF volunteer blog writer. Edited by Catherine Melman-Kenny, TSF Blog Coordinator, and Kayla Ganger, TSF Professional Member Liaison. Designed by Nicole Elwell, TSF volunteer blog designer.
© Turner Syndrome Foundation, 2023
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