Patient Comments: Turner Syndrome - Diagnosis

How was your Turner syndrome diagnosed?

Comment from: PixLPixie, 45-54 Female (Patient) Published: November 12

Well, I had the split preparation and then a colonoscopy. The preparation was not bad at all, not bad tasting at all; the Gatorade and Pedialyte tasted worse, too sweet. I was totally clear at the end of it. I slept as soon as the drugs went in, Fentanyl and Versed, then lucky enough to wake up to watch the screen and see the labyrinth that is my large bowel. Great. Then back to sleep. I just have to say that this test is so important. Don't be put off by the fear of preparation that may taste bad or opinions of others; form your own opinion.

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Comment from: Schwab, 19-24 Female (Patient) Published: April 01

At 15, I always talked to my parents how weird I felt because I didn't get my period like all my girlfriends and I was really short. My parents decided to take me to an endocrinologist just to check and try to see what was going on. After a lot of tests I was diagnosed with Turner syndrome.

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Comment from: Tonya, 7-12 Female (Caregiver) Published: April 22

My daughter was diagnosed with Turner syndrome at birth. She had lymphedema in her hands and feet, partial cleft palate, broad chest with wide set nipples, and extra skin on the back of her neck, along with a heart murmur. She was later diagnosed being monosomy X karyotype. She is 7 now and very outgoing. She has a rare condition with her heart that we found about when she was days old. Just a few months ago we found out that it may be affecting her. The doctor told us that it will around the age of 5 or 6. She actually has hyperthyroid, so she never stops. She gains no weight but eats constantly due to her thyroid. I tried her on growth hormones injection when she was about 4 but it was stopped about 3 months later. She hated them so much. She"s about a foot smaller than kids her age. But I guarantee you she is stronger than all of them.

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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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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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