r/TurnerSyndrome

I’ve known I had Turner syndrome since I was a child. I was on estrogen until I was about 18, but after that I wasn’t consistent. My life was very unstable, I was dealing with depression, CPTSD, moving around a lot, and honestly didn’t take care of myself.
Now I’m 36 and finally trying to prioritize my health. My endocrinologist has made several comments about me “wanting to start treatment now,” and it’s left me feeling guilty.
Has anyone else had a long gap in HRT before restarting?
Do you feel HRT was still worth it after such a long gap? Has it made a noticeable difference for you?
I’m trying to figure out whether restarting now is really beneficial or if I’ve missed the window.
(I had another post discussing side effects. I guess that’s partly why I’m seeking advice too)

I know since 26 weeks pregnant that my baby is mosaic TS (mos 45,X[36]/[46,X,i(X)(q10)[29]) so partially a monosomy, partially an isochromosome (that's the karyotype I received after my amnio at 23w) I was overwhelmed but accepted it fast, since the doctors couldn't see anything else wrong with her (except she's on the smaller side, around percentile 13).

At a mfm scan 2 weeks ago the doc said her aorta looks a little off and referred me to the best doctor for fetal echocardiograms, and I went today...and the diagnosis of CoA was confirmed. Truly I've never been so devasted in my life, I can't stop crying since this afternoon 😭

It's my third child and my favorite motherhood thing is breastfeeding, I adored it with my first 2, but if she'll have surgery, I don't know if I can keep up with pumping until she's well enough to nurse herself. (My let-down at pump was always so bad, I couldn't get anything down, only the baby could).

I feel so bad all over again, I just accepted the TS dx, but this feels too heavy and too real 🥹

Do any of you have positive stories about CoA to share?

I'm terrified I'll be a wreck, waiting for her to come home ... (I live in Eastern Europe, the capital of my country, they have good hospitals but not one where they operate newborns in the same building with the maternity, so she'll have to go with an ambulance to a special heart hospital for babies). The specialist told me today it's possible she won't need surgery, but the numbers did look bad for the moment 🥹

I also have so much to manage with my 2 other kids, this year they both have tough school years, the eldest with exams and such, and I wanted to be there for them, but instead, I'll be a trainwreck.

Tbh this pregnancy was a total surprise at an older age, but I thought it's a blessing. All these problems just hit us in full force and I'm not ready....

Hello everyone, I'm currently in the process of getting a referral to get a blood test to see if I have Turner Syndrome. I'm 28 so I'm going through this process quite late. I'm just wondering what to expect if I do get diagnosed? Its all very overwhelming. Thanks!

Hi all,

Hoping folk with similar results can share--

I had a karyotype recently after 3 IVF cycles and a recent aneuploid pregnancy that ended with termination. The karyotype only sampled 20 cells, but it showed 20% X and 5% XXX and 75% XX. I don't have any classic signs, I had normal periods, am above average in height, good fertility numbers but below average quality and euploid rates (I've had all aneuploids so far which is below average for my age). I had never gotten pregnant naturally, but husband has male factor and I also have significant endometriosis, so I thought that may explain it. My REI suggested the karyotype just to make sure there weren't other factors at play with aneuploid results and our history of infertility.

It's possible there could be subtle physical signs, like a minimally broad chest or thicker neck, but I also could be wrong. ,. As a child, I had recurrent ear infections, obesity (and as an adult - but thank goodness for the GLPS). I have hashimotos, mild scoliosis, functional ADHD, terrible depth perception some other autoimmune issues, dental crowding and thin enamel issues despite good care of teeth. Most of these are pretty non specific

Lab corps originally said "likely to be age related X aneuploidy" but the IVF genetics team picked up on the findings and even there explanation made no sense. It's above average monosomy X, there was no commentary on the XXX cell line. I'm 40, so this is way above the cut off for normal age related X aneuploidy, and the presence of an XXX is more suspicious for a real mosaicism.

With that said, have any of you had a preliminary karyotype with 20% monosomy X, 5% XXX (this is more rare based on what I've read) and either done an expanded karyotype or more confirmatory testing? What did it show? Did the percent mosaicism change? Were there any unexpected results (like addition of Y).

I will get a genetics consult, do cardiac clearance and I'll push for better or more confirmatory testing because I'd like to know what's what, but until then, I appreciate hearing your stories.

I was diagnosed with Turner’s Mosaic at 11, and started on daily growth hormone shots. I’m now currently about 4’8-4’9 (which is really annoying because on my license it says I’m 4’10, it’s literally like I’m shrinking lol).

I’ve gone through periods of my life where I’ve been hyper aware of my height, high school especially I was very insecure about it. And I’ve gone through periods where I don’t really care. Right now I’m in a period where I think about it everyday. I think it’s because I currently work as a nanny, and the 10 year old girl I watch is now about my height. It’s difficult looking at her and realizing that that’s how I look to other people (height wise). And her friends also love to say things like “omg I’m taller than your nanny.” It’s so stupid that at my grown age stuff like this bothers me but it does.

I go out to clubs and bars with my friends and all I can think about is that any guy who looks at me just thinks I look weird, or like a child. I feel like women taller than me are able to look sexy in a way I can’t. It’s stupid but all I think about is if there’s some way for me to get taller because I’m literally delusional lol. I would literally take just 3 more inches of height. I think once I stop nannying and stop being reminded everyday that I’m the same height as a 4th grader I’ll feel better lol. Just needed to vent.

Just curious what others’ experiences are starting Estradiol?
I’m 36 and start in March. First month was fine, has side effects that were normal. But then 2nd week of 2nd month I started spotting/bleeding and have been ever since. My endocrinologist has told me it’s my body getting used to it but at this point this is miserable. She also recommended a Pap smear which i scheduled. It’s been 2.5 months basically. Has this happened to you? What HRT does your Endo have you on?