Patient Comments: Turner Syndrome - Diagnosis

Question:How was your turner syndrome diagnosed?

Comment from: anelson44, Published: December 12

I was 13, and my mom had been telling the doctors since I was about 6 that I was short for my age. They kept telling her I would hit my growth spurt not to worry. As a child I was always getting ear infections and having to have tubes. Finally we changed insurances in 2007. Again, my mom brought this to the attention of my PCP. We finally got the referral to the endocrinologist, not because he suspected Turner's but because of my thyroid and bone scan. The doctor that looked at me started to look at my hands, mouth, and fingers, and then left the room. He then came in and told my mom that what all these signs were pointing to was Turners. I was diagnosed April 11, 2007. Since then I have a thyroidectomy, found out I have scoliosis, and was able to take HGH for about a year and half and am now 5 ft tall.

Comment from: SharLa, 19-24 Female (Patient) Published: October 11

I was diagnosed with turner syndrome when my mother was pregnant with me. She was an older mother so as they do sometimes they ran that test where they take the fluid from the stomach. It came back positive for turner syndrome. The doctor actually told my mother to have an abortion because they didn't know what problems I would have. Well I was born June 10 and grew up to only be short and not have many Boobs. My whole life I was told I wouldn't have children which saddened me because that's what I wanted. Well at 18 I found out my boyfriend of four years and I was expecting a child. I now have a beautiful girl of 5 months born on Easter. They then told me I was a mosaic which is how I was able to get pregnant. Well they ended up also telling me that my child could be born with full on turner syndrome or none at all. When she was born they took my chord and tested it. She was turner syndrome free and I was blessed.

Comment from: 19-24 Female (Patient) Published: March 25

I was diagnosed with Turner Syndrome at 17, when I was a senior in high school. This was at an age when my peers were talking about getting married and having children in a few years. Knowing I would not be able to have biological children was difficult for me emotionally. I am now 24 and have hypothyroid, struggle with weight, and high blood pressure. As I get older, I'm starting to look into other options for having children, like IVF and adoption. I feel that everything happens for a reason.

Comment from: kathy, 45-54 Female (Patient) Published: February 01

I was 16 when I was diagnosed. I never really understood the enormity of the sickness. I did the treatment. I was told I couldn't have children, but I now have a beautiful daughter with the help of I.V.F and an egg donor. I suffer with weight issues, thyroid, eye problems, a hearing disability and high blood pressure. But I have lived a beautiful, normal life. This sickness never stops you from living and achieving your dreams and goals. I have learned to live with it. Every now and then I get down but my daughter makes me feel like I am a great woman and mother.

Comment from: ashnco, 25-34 Female (Patient) Published: December 07

I was diagnosed with Turner Syndrome when I was 11 years old. They were running a blood test for another condition I have when they found it. All I have to say was it answered a lot of questions, like why I had so many moles, ear infections, trouble in math, etc. My pediatrician, who did not order the test, called on a Sunday night to apologize to my mom for not catching it sooner. Apparently, while I have always been short, I was taller than most girls my age with Turners. Through taking growth hormone shots almost everyday I'm 5'3 and on birth control for several years. I have regular periods. Overall I live a normal life but will still check in with the specialists to make sure no new problems pop up due to this.

Comment from: Roseshepherd, 7-12 Female (Caregiver) Published: October 15

My younger sister was diagnosed in the womb, but doctors didn't realize it. They thought she had down syndrome and actually asked my mother if she wanted to terminate the pregnancy. After her birth they were able to properly identify Turners Syndrome and immediately set her on growth hormones (or as immediately as they do for Turners girls). Because the growth hormones seem to also help her muscles she is now one heck of a really short gymnast.

Comment from: Turners Girl, 35-44 Female (Patient) Published: May 30

I have Turner Syndrome. I am 38 years old. I was not diagnosed until I was 15. Back then they did not have all the medical technology they do now and my symptoms were short stature and not starting puberty. I was started on growth hormones and a few years later my doctor tested me for low thyroid and put me on thyroid medicine that I still am on today. I am 5'2. As an adult I still see my endocrinologist once a year. This year I did start with high blood pressure and last year I had a cataract in my left eye. I have a great life and am for the most part healthy.


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Turner Syndrome - Symptoms Question: What symptoms did you experience with Turner syndrome?
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