Turner Syndrome Support Group
Turner syndrome encompasses a number of chromosomal abnormalities, of which monosomy X, is the most common. It occurs in 1 out of every 2,500 female births. Instead of the normal XX sex chromosomes for a female, only one X chromosome is present and fully functional. In Turner syndrome, female sexual characteristics are present but underdeveloped.
I am the mother of 12 year old twin girls. One of my twins has always been considerably smaller than the other, but I have been reassured for years that both were completely normal. Both twins followed their respective curves on the growth chart, one 85% for height and weight the other 3% for height and weight. Both girls are extremely talented dancers whom have competed across the United States as well as junior high cheerleaders in a pretty competitive school district. It was not until this past year it became quite apparent that the differences are now a cause for concern. Our PCP, along with myself and her father agreed seeing an Endocrinologist for growth hormone therapy would be beneficial. At that appointment we heard the words "Turner Syndrome" for the first time. We had a very thorough exam which exposed a heart abnormality, blood tests that exposed thyroiditis and low estrogen levels. We did have the chromosomal testing, but are still awaiting the results (should know by next Friday). This past week I feel like my world has been turned upside down! How did we miss this? She has a few characteristics of TS; short stature, short toe (but it's #2 not #4 or #5), broad chest, minor learning disabilities in math, as a baby frequent ear infections, hospitalized 2 times for immune deficiencies (but never diagnosed with autoimmune disorder), delayed puberty (no development of breast buds or pubic hair), and most recently the heart abnormality (we see a cardiologist in OCTOBER-the soonest they could get us in). Is there anyone in this forum, parent or Doctor, who is familiar with TS diagnosis at a pre teen? Her bone age is appropriate for a 12 year old, does that mean we are too late for growth hormones? Is there anything I can do with such a late diagnosis? She is 4'6" now, I want her to feel normal! I don't even want to tell her about any of this right now, or even when/if we get a diagnosis. I know I'm in denial and I'm thankful we are getting answers, but I feel like I have failed her by not taking action sooner! Any and all advice is welcomed and appreciated!
-Scared mom, Jill L.
I understand this is incredibly overwhelming. I was diagnosed at 16 (I am 21 now), and had the bone structure of a 14 year old at the time. They told me then I would be able to take growth hormones; however, the gap for it to be effective would be closing soon. If your daughter is still in the stage of a 12 year old bone structure, I do not think it's too late. The only thing the doctors told me was that because it was still new technology there was a slight chance it could possibly help me grow a couple inches (wouldn't be that effective). These hormones are a lot to put on one's body, as it requires injecting a needle every day. I would talk this thoroughly with your daughter if it is something she wants to do. Guiding her to be confident with her height, even if she is shorter than others, will help her to feel normal; making a big deal about it will not. Personally, I think you should talk to your daughter about her diagnosis once you have all the information; to give her more time to help her process what her condition is, and to understand her body. If you wait too long, it could be that much more overwhelming and confusing for her when she finds out. Please don't feel as if though you failed, you haven't, you didn't know. The important thing is that you are getting the medical attention for her that is needed. This was the same in my case, we had no idea that I had this condition, and it didn't feel real when the doctor explained everything to us; it was extremely overwhelming for me.
I can understand this feels scary, but don't worry, your daughter will be okay. :)
hope I could help!
- B
Chloe was diagnosed with Mosiac TS. We started growth hormone in September and at her December appt had grown .30 of an inch. We go back in Feb for more information. I believe once she hits a 10 growth velocity (I think that’s what she said) we will start estrogen. The estrogen will allow her body to start developing as a woman. She could still spontaneously go into puberty on her own, but only time will tell. She handled it well, but I’m not sure she quite understands it all. It was very scary for us at first, not knowing, but after I gave the dust a chance to settle I began to feel better. We chose to look at it like this: there are children out there getting much worse diagnosises. Luckily, due to modern medicine, we can combat every single symptom as she chooses to do so. There is medicine to help her grow, there is medicine to start puberty, if she can’t conceive a child in her own there is IVF (plus she has a twin) and there are thousands of children out there to adopt. As her mother I will make sure we take whatever steps she chooses for the life she envisions for herself and family! Keep your head up, you can do this momma!
I was diagnosed when I was 12 and am now 24. Feel free to message me with any questions