Patient Comments: Turner Syndrome - Diagnosis


How was your Turner syndrome diagnosed? Submit Your Comment

Comment from: Pippa, 55-64 Female (Patient) Published: August 17

I was medically assessed aged 10-13 regarding sexual development. I had repeated internal examinations, once restrained by a nurse. I had genitalia shown to me with a mirror. I was photographed naked next to my sister (also naked). She had already been found to have a DSD (disorder of sex development). I started my periods normally, aged 13 without hormones. I was diagnosed with mosaic Turner syndrome aged 10, and was only told of the diagnosis aged 33. Doctors refuse to validate abuse. Horrendous entries in my medical notes. Mega betrayal.

Comment from: Holly, 45-54 Female (Patient) Published: August 13

I was diagnosed with Turner syndrome at around 20. My parents didn't really take me to the doctor and I was just told I was small. Now I'm 54 and a train wreck with strokes, heart disease, thyroid, hearing loss, and was told really nothing can be done anymore but medication. I also had 2 brain surgeries last year for Moyamoya syndrome.

Comment from: SheriReho, 65-74 Female (Patient) Published: October 16

I stopped growing in elementary school but wasn't taken to a specialist until I was 17, which is when I was diagnosed with Turner syndrome. I was not given growth hormones, but was prescribed unopposed estrogen. I took myself off of it at 18 or 19 but later had estrogen/progesterone combo from 35 to 50ish. I am 66.

Comment from: aurora77, 35-44 Female (Patient) Published: May 02

I was diagnosed with Turner syndrome when I was 6. My mom took me to a doctor and he said I was just going to be short. About a year later I still wasn't growing and fit into the same clothes I had when I was 3, so my mom took me to a different doctor for another opinion. He said the same thing and my mom blew up at him. She insisted that I should be growing at least a little if I was just short. Thank goodness for that. I had to stay in the hospital for 3 days so they could run a bunch of blood tests. They got the results back and told my parents I have Turner syndrome. I started growth hormone shots soon after and was on them until I was 14. I am 4 ft. 8 inches and 38 years old now. Wish I could've reached 5 foot but I consider myself very lucky in that I have not had any health problems. I have normal periods and the doctor said there is a chance I may be able to have biological children, but I have always wanted to adopt regardless. I plan to as soon as I finish my social work degree. The hardest parts for me have always been the psychological effects. I took a long time to mature, I have a hard time with social skills (yeah I know and I picked a career in social work), and I am bad at math and driving. Overall though, I am happy and look forward to the future.

Comment from: April, 55-64 Female (Patient) Published: August 04

I was diagnosed with Turner syndrome when I was 18. I am now nearly 64. Mum kept telling the general physician but he just kept saying she is fine, she is only small. Eventually, I was in hospital with psoriasis and mum told the doctor, who arranged all the necessary tests. I was devastated. At that time there was nothing they could do. I believe there is a lot more they can do now but all those years ago there wasn't. However, I'm ok and living life.

Comment from: D, mcr, 45-54 Female (Patient) Published: March 22

My Turner syndrome was diagnosed at the age of 8 back in 1979. Mum noticed I was not growing like my brother was and I was hospitalized overnight and had blood tests, etc., through the night. My pet rabbit died while I was away and was more upset at that than the diagnosis, they told me they didn't know how tall I would grow. I went every 6 months, then every year. I never had any growth hormone as back in the day it was not an option. I had normal periods from the age of eleven, and still having them.

Comment from: monik, Published: May 24

I have night sweat and it happens when I wake up during the night (after I am awake they start and then I feel cold).

Comment from: dn, 19-24 Female (Patient) Published: May 13

I have been experiencing vertigo off on and on for years. Mostly after a chiropractic adjustment, which only makes it worse. Horrible dizziness where I cannot tell which way is up or down. I wake up extremely dizzy with nausea and cannot deal with any motion. Here's where my life totally changed. I went to a wellness center and just mentioned that I had vertigo and the owner told me that I had my C1 and C3 out. I was skeptical, and she suggested I see the massage therapist, where he does not do any sharp movements and no hard popping like a traditional chiropractor. So I went to him and got some relief. But it soon returned. In trying to find a solution to this debilitating feeling of dizziness and nausea I found the most amazing chiropractic office. Certainly I was skeptical. First thing they did was a series of tests; x-rays, strength tests, they put me on two scales, one for my right and left foot, amazingly enough one side weighed 20 lb more! That means I was putting more weight on one side than the other. So after all diagnostic tests were done. I went home. Next appointment, the chiropractor only did very small adjustments to my C1 and C3 which were so maladjusted I'm surprised I can stand at all. The following morning I expected to wake up and feel like I always felt, dizzy, nauseous, etc. Not! I feel so amazing! My C1 and C3 were so far out of adjustment it was causing me all kinds of problems. If you are having issues with vertigo, find a chiropractor that specializes in upper cervical pain or symptoms of vertigo. The chiropractor should do x-rays in order to find the bones that are out of place. I am a new man as a result of finally getting this discovered and corrected, for the first time in 10 years!


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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.

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.

Comment from: CS, Female (Patient) Published: January 26

I was sitting on the backs of my legs/ankles on the floor wrapping Christmas ornaments for about 40 minutes. When I tried to stand up, I couldn't put any weight on my right leg and I couldn't bend or straighten it either. It was almost two days before I could put any weight on it.

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.

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: pieterse, 7-12 (Caregiver) Published: June 28

I use paint thinners on my tooth when I have toothache. It sounds crazy but I had enough pain. So yes, the onion works also, and shoe polish also works, but the thinners burns your mouth but it numbs your mouth. And Grandpa powder also works.

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.

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.

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.

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.

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.

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.

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.

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.

Comment from: mdnit1, 35-44 Female (Patient) Published: April 12

I was diagnosed with turner syndrome at 16 when it became apparent that I wasn't developing as well as the other girls in school. I was born with a heart murmur which I outgrew and my blood pressure is wonderful. I stand 4'10" tall and the webbing on my neck and hands are minimal. However the 4th and 5th toes on both my feet appear to be switched around. I was on estrogen for a month which helped me develop my breasts. I have not been on any hormones since. I have a normal sex life and walk with a slight hunch in my back. However with constant reminders I am able to walk straight...I just chalked it up to bad posture! Who knew...I had seizures growing up as well which I also outgrew and doctors said I would't live past 2. Today I am 41 years old and lead a very productive life and thinking about going back on hormones to tame these awful hot flashes.

Published: February 28

I was 15 when I was diagnosed with Turner's. I had to see an endocrinologist at a children's hospital and had blood work and other tests run to get my diagnosis. I had my ovaries removed and have been on hormone therapy ever since.

Comment from: Besa, 19-24 Female (Patient) Published: April 11

When I came to Norway I was diagnosed with turner syndrome at 3 months old. The doctors saw me and saw that I had swollen feet and arms and saw that something wasn’t right and told my parents that I have turner syndrome.

Comment from: Sammmi20, 19-24 Female (Patient) Published: January 31

I am 20 and have just been diagnosed with mosaic turner’s syndrome. I am not really sure what this means at this point except that I won’t ever have my own baby and that it explains my entire medical history. Am very curious as to why no one picked it up till now.