My Story: Turner Syndrome and Gonadoblastoma

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The Turner Syndrome Foundation’s (TSF) My Story blog series highlights the experiences of individuals, families, and caregivers affected by Turner Syndrome (TS). Their stories have an incredible ability to inspire others and make a positive impact on the TS community. Since September is Ovarian Cancer Awareness Month, we share the story of Renee, who had her ovaries removed due to a gonadoblastoma, a type of tumor that can occur in TS patients with Y-chromosome mosaicism and can lead to cancer.

Ovarian Cancer Awareness

September is Ovarian Cancer Awareness Month. Ovarian cancer includes cancers of the ovaries, fallopian tubes, and primary peritoneum (the membrane lining the cavity of the abdomen and covering the abdominal organs). Ovarian cancers often do not cause any symptoms in the early stages of the disease and may go undetected until they have reached an advanced stage. There are no available screening diagnostics for the disease, but there are tests that can help diagnose it. 

About 1.3 percent of women will be diagnosed with ovarian cancer at some point in their life. Family history and the presence of inherited gene mutations are the two most common risk factors, in addition to the use of estrogen-only hormone replacement therapy and fertility drugs. While only about 20% of ovarian cancer cases are caught in the early stages, around 94% of patients live longer than five years after diagnosis.

Fox Chase Cancer Center
Everyday Health

Ovarian Cancer & TS

Wikipedia
Spandidos Publications

Gonadoblastoma is a rare tumor that arises in abnormal gonads (the ovaries in women) and contains a mixture of germ cells (cells that become eggs) and sex cord cells. Some gonadoblastomas are benign (non-cancerous), but some can become malignant (cancerous). Some observational studies in TS patients with Y-chromosome mosaicism (a 45X0/46XY karyotype) reveal a higher potential for gonadoblastomas to become malignant.

Karyotyping (a test to examine chromosomes in a sample of cells) of TS patients is critical. In patients with Y-chromosome mosaicism, this tumor can be evident, even in the first decade of life in streak gonads (ovarian insufficiency that can cause delayed puberty and infertility). Early detection of Y-chromosome sequences in TS patients is key, due to the high risk of associated gonadal tumor development. Fluorescence in situ hybridization (FSH or FISH) analysis, in addition to regular karyotyping, effectively identifies sex chromosome markers.

Renee’s Story

Let’s meet Renee, a woman with TS who had her ovaries removed due to a gonadoblastoma. She is a strong woman and fierce advocate for TS awareness.

My Diagnosis

By age 17, I had not yet started my period. My mom was getting more and more concerned. She finally convinced me to see my doctor, whom I had recently started seeing again after her extended maternity leave. She had recently attended a session on TS and recognized that it was a possibility.

“The blessing of having TS is the TS community. I have made wonderful friends who understand in a way others cannot.”

Renee
Renee, diagnosed with TS at 17

Impact of TS On My Life

Renee with the Nebraska TS Awareness Month proclamation

My karyotype showed that some of my cells contained a Y chromosome, which put me at an increased risk for gonadoblastoma and ovarian cancer. Therefore, I needed to have my ovaries removed. The pathology report showed that I did, in fact, have a gonadoblastoma, but luckily, it was benign.

Later, at a TS conference I attended, I had some screening done to be sure I didn’t have some of the other problems associated with TS, such as a bicuspid aortic valve, coarctation of the aorta, or a horseshoe kidney. It turns out that I do have a bicuspid aortic valve, so it is important that I continue to monitor my heart for aortic coarctation or dilation. 

Because of my late diagnosis, I was not able to have growth hormone treatment (GHT). I wonder if I would have ended up taller if I had been diagnosed earlier and done treatment. Shortly after my surgery, I started on hormone replacement therapy of estrogen and progesterone. The blessing of having TS is the community. I have made wonderful friends who understand in a way others cannot. Thank you to my Nebraskan butterfly sisters.

Challenges I've Faced

For me, the biggest challenge of having TS is the emotional aspect–feeling different from others, being the target of teasing, and having anxiety. That’s where the relationships I have formed with other women with TS here in Nebraska and at national conferences have helped.

I have been blessed to have had good healthcare. I would love to see more specialized TS clinics so that patients with TS could have the best care possible and have more of a “one-stop shop.” It would be so nice to take care of everything at one time, instead of seeing the endocrinologist one day, the cardiologist another, and scheduling all the necessary tests separately.

I am proud to have a Bachelor of Arts degree with a major in French and a minor in Spanish. I have also worked as an educational American Sign Language interpreter. My future plans include attending more national conferences and getting together with my Nebraska butterflies.

TS Awareness Month Proclamation

Every year since 2013, I have arranged for a proclamation from the governor of Nebraska for February to be declared TS Awareness Month. There is a ceremony where the Governor signs the various proclamations, and a representative speaks about it.

Renee with the Governor of Nebraska and other TS advocates at the proclamation ceremony
Renee with the Governor during the ceremony

What You Can Do

Renee is an example of a strong butterfly and fierce advocate for TS awareness. We can learn a lot from her story, in terms of Turner syndrome and gonadoblastoma and advocacy:

  • Ask your endocrinologist to do a FSH (or FISH) analysis, in addition to a regular karyotype test, to identify whether there is any Y-chromosome material.
  • If you do have Y-chromosome mosaicism, follow up with your endocrinologist for further testing, including an abdominal/ transvaginal ultrasound.
  • If your genetic testing (karyotype) was done many years ago, talk with your health care provider about whether repeating it would be a good idea. Technology is constantly changing and improving.
  • Of course, if you have any symptoms, like pain or irregular bleeding, see your doctor right away.
  • Advocate for TS awareness and action whenever and wherever you can. See the TSF website for information on personal advocacy and public (legislative) advocacy.
  • Sign the Petition for TS Patient Care. This document will be sent to lawmakers to stress the importance of early diagnosis and comprehensive, specialized healthcare for TS patients.

Written by Ruchika Srivasatava, TSF volunteer blog writer, and edited by Susan Herman, TSF Blog Coordinator. Designed by Jasmine Persaud, TSF volunteer blog designer.

© Turner Syndrome Foundation, 2022

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