Patient Comments: Turner Syndrome - Diagnosis

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.

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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.

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Comment from: nanny, 3-6 Female (Caregiver) Published: July 30

I am so happy all of you are doing so well, I hope my granddaughter will get to do so well. She was born with Turner's and only weighed 1.14 lb. Her mother has never taken her to her specialists to keep track of her development. She will soon be 4 with the intelligence of a two year old maybe.

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Comment from: katyq85, 25-34 Female (Patient) Published: December 30

I was born in 1985 two weeks before my mom's 31st birthday. A military doctor happened to be there and told them I needed to be tested for Turner syndrome. My mom's cousin was also born with Turner syndrome.

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Comment from: megrae18, 19-24 Female (Patient) Published: July 24

My mother was pregnant with me when they diagnosed me with Turner syndrome. They performed an amniocentesis and then told my mother I had Turner's. I was born April 7 and I am on a medication for under-active thyroid. I am healthy and well and doctors didn't think I would even get breasts, but I have a broad chest. I was bummed I have to live with this for the rest of my life, but I am happy and I have a great life ahead of me.

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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.

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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.

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Turner Syndrome - Symptoms Question: What were symptoms associated with Turner syndrome in you or someone you know?
Turner Syndrome - Treatment Question: What kinds of treatment have you or a relative received for Turner syndrome?

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