Reproductive Health

Reproductive health is an essential part of every women’s overall health and well-being. Good reproductive health is a product of diet, exercise, hormonal balance, positive psychological health, as well as specialized medical care for women with Turner Syndrome (TS). For example, diabetes, obesity, and thyroid disease all may interfere with ovulation and increase risk of miscarriage. These elements are even more important for women with Turner Syndrome, a majority of whom experience reproductive health issues. 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. Adequate estrogen levels help to build strong bones, improve fat and cholesterol metabolism, improve sexual functioning, reduce the risk of colon cancer, and strengthen the memory. For girls with TS, estrogen also allows them to undergo the physical changes of puberty that their peers are experiencing.

One of the most distressing reproductive health issues associated with Turner Syndrome is the decreased ability to become pregnant. This is the case for nearly every woman with Turner Syndrome due to premature ovarian failure. Only a fraction of women with TS are able to become pregnant spontaneously, yet due to certain classifications some women may have ovarian function. These include women with mosaicism, especially if a majority of cells are normal, and women with deletions of only the short arm of the X-chromosome (Xp). Other co-morbidities, including diabetes, obesity, and thyroid disease, all may decrease ovulation and increase risk of miscarriage.

With the advancement of Assisted Reproductive Technologies (ART) the chances of women with Turner Syndrome carrying a pregnancy are increasing, most likely with a donor egg. Pregnancies using eggs produced by women with TS have an increased risk of chromosomal abnormalities and an increased chance of miscarriage. It is vital to know that carrying a child comes with heightened health risks, both during and after pregnancy, ranging from aortic dissection to issues with the kidneys, lymphatic system, and thyroid. A thorough evaluation by a cardiologist and high risk obstetrician is critical for women with TS who are considering carrying a pregnancy, since women with TS are at increased risk of cardiac complications and death both during and after pregnancy. The use of a donor egg in combination with a gestational surrogate, or adoption, are excellent options for family building for those who cannot or choose not to carry a pregnancy for medical reasons. Just as each person with Turner Syndrome is unique so is her journey and each will come with its own solution.

There are a multitude of issues related to Reproductive Health for women with Turner Syndrome. Turner Syndrome Foundation recognizes the impact that reproductive health has on a woman, and has initiatied a partnership with a council of medical professionals to create consensus guidelines to assist in choosing the best options for your specific needs. 

Coping with complex reproductive health issues cause many women to describe feelings of loss, grief, fear and depression; however, it is important to try and remain optimistic. More than 7 million people experience infertility each year so it is important to know you are not alone. 

Council on Infertility - A Turner Syndrome Foundation Health Initiative

“Fertility Preservation In Females With Turner Syndrome: A Comprehensive Review and Practical Guidelines”
Review Provides Guidelines for Practitioners with Turner Syndrome Patients

This review was led by Kutluk Oktay, M.D., Ph.D., professor of Obstetrics and Gynecology of the School of Medicine at New York Medical College (NYMC) and world-renowned infertility specialist along with Karen Berkowitz, M.D., Richard Bronson, M.D., Peter McGovern, M.D., Lubna Pal, M.D., Gwendolyn Quinn, Ph.D., and Karen Rubin, M.D. In addition, Giuliano Bedoschi, M.D., and Banafsheh Kashani, M.D., contributed as fellows.
Open access provided by Turner Syndrome Foundation at: http://www.sciencedirect.com/science/article/pii/S1083318815003575 

Contacts of the authors are highlighted on the announcement.
Read TSF Council on Infertility Announcement
 

White Papers:

Dosing Standards for Estrogen: Endocrinetransitions.org
This guide provides adult and pediatric care providers an overview of dosing strategies 
Read paper

Sexual Development: Proper Estrogen Replacement Therapy in Turner Syndrome Adolescents, Nelly Mauras, MD
Read article

Oocyte Cryopreservation for Fertility Preservation in Postpubertal Female Children at Risk for Premature Ovarian Failure Due to Accelerated Follicle Loss in Turner Syndrome or Cancer Treatments, K. Oktay MD1,2,*, G. Bedoschi MD
Read paper

Pregnancy in Turner Syndrome carries high hypertensive risk
Ob. Gyn.News
News and Views that Matter to the Ob.Gyn.
Post by Sara Freeman 7/30/13
Valuable information on the promise and peril of pregnancy in women with Turner Syndrome
Read article

American Society of Reproductive Medicine: Increased maternal cardiovascular mortality associated with pregnancy in women with Turner Syndrome white paper  online CME

Other resources:
View resource page

"Alone On A Path Shared By Many", is a New York Times article that was published depicting the poignant journey of discovery.  

PORTRAIT of me, 2005: New Yorker, writer, age 31. I had a new boyfriend, an agent excited about my novel and a new college teaching job. I was finally approaching happiness, even if I had taken the scenic route. I should have been running victory laps. Here’s what happened instead: I got sick. read article

A Fresh Perspective

Let me introduce myself…. My name is JoLynn Backes, and I am a 33 year old woman diagnosed with Turner Syndrome when I was 6. Right now I am living in Poughkeepsie, NY with my husband. We were blessed with a baby boy through IVF.

Infertility is one of the hardest issues that TS women have to face. What makes it even more difficult is there is not a lot of information readily available to help us sort out our options, or help us through the process whatever we decide. To help raise awareness and advocacy around infertility issues TS women face, the Turner Syndrome Foundation and I would like to hear your stories. Did you go through the IVF process? How did you decide? What was it like for you? Did you adopt? How did you decide to go that route? What was that process like? Did you and your partner decide your best option was to forgo parenthood? How did you make peace with that?

Please send your personal essays describing your unique experience to jbackes@tsfusa.org. Your story can help inspire and comfort others and help us raise the much needed awareness. Feel free to contact me if you have any questions as well.

Sexual Development Disorders
Connecticut Children's Medical Center Multidisciplinary Clinic for Disorders of Sexual Development (DSD) brochure
 Physician's Referral Guide Fact Sheet
 Accordalliance.org DSD Online Resource
 DSD Resource List Fact Sheet

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