Reproductive Health with Turner Syndrome - Turner Syndrome Foundation

Reproductive Health

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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

Read Article- "Alone on a Path Shared by Many"

“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

Meet, author and TS patient, Allison Amend in a video interview.

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

White Papers

To read more about REPRODUCTIVE HEALTH & FERTILITY, scroll to page(s) G21-G25 in the Clinical Guidelines found here: https://turnersyndromefoundation.org/wp-content/uploads/2017/07/Clinical-Practice-Guideslines-International-G1-2017.full_.pdf

Discover answers to your frequently asked questions about TS.

Learn about fertility preservation in webinar: Family Planning.

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