Patient Comments: Turner Syndrome - Diagnosis

How was your Turner syndrome diagnosed?

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.

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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.

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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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Comment from: Beautiful AMY, 35-44 Female (Patient) Published: August 25

I was diagnosed with Turner's Syndrome when I was 16 by the doctor. I took growth hormone. I have a underactive Thyroid gland.

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Comment from: Debby, 25-34 Female (Caregiver) Published: March 30

My daughter (she is now 29) was diagnosed with turner syndrome by a very thorough registrar when he was giving her the final check-over to discharge us after she was born. He noticed her nipples were further spread apart than normal and that started him looking for other signs. He had difficulty finding a pulse in her feet and also noticed the webbing in her neck. The kept her for further testing and that confirmed his diagnosis.

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Comment from: J.R.Dowd, 45-54 Female (Patient) Published: March 30

I was 16 when first diagnosed with turner syndrome. My mother had become concerned when I had not started to menstruate and had underdevelopment of secondary sexual characteristics. After referral to a specialist/endocrinologist, the diagnosis was made. I am now 53 years old and work as a registered nurse. Yes I am short statured (one of the symptoms related to turner's), however, I lead a fulfilling life and love to travel. I am also blessed with a loving family and good friends. I also have a niece and nephews whom I adore.

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Comment from: reedjaimel, 3-6 Female (Caregiver) Published: March 16

My daughter was suspected of having Turner syndrome at birth and was diagnosed at only a few weeks old. She was found to have a coarctation of her aorta which was repaired when she was 18 months old. She began growth hormone injections at 3 years of age. Today she is six and doing very well.

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Comment from: Broadway Babe, Female (Patient) Published: April 11

I was diagnosed with turner syndrome when I was still in my mother's womb. But, I didn't find out until elementary school. Not a very exciting diagnosis, but anyway, I'm lucky because I'm a mosaic, which means I have only half a chromosome missing.

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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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