Worried because my DD is being tested for Turners Syndrome - but has no symptoms other than being small in height... Please tell me it's unlikely that she has it :-(

[Katnisscupcake]

Hi there,

We self-referred to a paediatrician because DD (4.5) has been on the 0.4th Centile of the growth charts for some time.

The paediatrician saw her and confirmed that other than being short, she has none of the other symptoms of Turners but that they wanted to run some blood tests to rule it out. I had an Amnio when I was PG with her as I had a high risk of downs (due to a high PAPP-A in my blood) and they performed the indepth, 2 week Karyotype which showed up as a completely normal 46 XX with no evidence of Turners (the Consultant sent me a letter last week to confirm this was the case, after my querying any sign of Turners).

DH's Mum was only 5ft and his Sister (my SIL) is only 5ft 1. DH's DNiece was also very small as a young child and was investigated for dwarfism, but she was completely fine and is now 5ft 2, so not tall but takes after his side of the family.

But I'm scared. Really scared.

Has anyone else's DD been tested for Turners purely because of small stature, no other symptoms and been fine?

DH and I are both 5ft 8 (although I don't think 5ft 8 is particularly tall for a man).

TIA

[UriGeller]

I don't really have any advice but your post jumped out at me because I know a lady who has Turners Syndrome. (Co-incidentally, this lady has a degree from an highly regarded university).

As far as I'm aware, there are quite a few physical characteristics with Turners, your paediatrician does seem to be jumping the gun somewhat suggesting Turners because your dd is under the average in height and has no other characteristics, especially since short stature runs in your family!

Please try not to be scared. I'm sure the blood tests are to rule out, not confirm the presence of Turners.

[Katnisscupcake]

Thank you so much Uri. We are waiting for the letter now to confirm when the bloods are going to be taken. They are also checking for growth hormone and thyroid aswell.

I think it's the infertility with Turners that scares me. All very well to 'choose' not to have children, but not to be given a choice is very very upsetting. Luckily because DD is only 4, she knows nothing at the moment and hopefully will never need to.

[BiscuitsandBaileys]

Hi kat.
My dd was tested for turners when she was 5 as she is small for her age and also because her little fingers bend inwards.
They took bloods the same day as we saw the paediatrician and then we had a long wait for the results.
I was pretty scared too, but she's fine, just little

I'm sure your dd will also be fine.

[IHaveSeenMyHat]

Forgive me for being a bit scientifically ignorant, but if your DD has already had an in depth test of her chromosomes and all was normal, it must be impossible for her to have Turners Sundrome. Seems that way anyway.

Hopefully you'll get some reassuring news. How long do you have to wait?

[mrsminiverscharlady]

If you had karyotyping done during pregnancy I would have thought that it was more or less impossible for her to have Turner's. Does your paediatrician know you had an amnio?

[Katnisscupcake]

Yes she does, although she may not have received the copy of the letter that my Consultant has sent, in time for the letter to come out that we received today. In reference to the amnio, the paed made this statement in the letter:

'even in light of the normal Karyotype from amniocentesis while she was pregnant with katnissbaby, it is still important to repeat katnissbaby's bloods since a normal amnio cannot completely exclude Turner's syndrome.'

[Katnisscupcake]

We've waited 3 weeks already since the Paed appointment, the letter has only just come out to us. Now we have to wait for the appointment for the blood clinic for them to do the tests and then I've heard rumours that it can be 7 weeks before the results come in.

It feels like a lifetime...

[cestlavielife]

did they also run a coeliac screen?
my dd was tested for all sorts of things including turner for being below 0.4 centile and was diagnosed with coeliac disease - this was stoppping her growth. treated she began to grow again....

testing for turners is standard for a short child .

if your your dd has turners well you will deal if she does....

[cestlavielife]

also has she actually dropped centiles or has just remianed on the 0.4 ?someone has to be on the 0/4 centile if she following the line and growing is different from actually falling off the charts which is what my dd did

[Picturesinthefirelight]

What is turners syndrome? ds is very small for his age but its never been mentioned.

[Katnisscupcake]

C'estlavie - we didn't get her height regularly checked, although she was born on the 25th Centile and she had her usual developmental checks and they weren't worried (even though when we plotted her ourselves once she had dropped under the bottom line). The last three times she's been measured she has followed the 0.4th centile, but that's only been in the last year.

We have seen DNiece's Red Book (she's now 21 years old!!) and hers followed the exact same pattern as DD's, although hers did drop off the bottom line, hence being tested for dwarfism aswell.

They are testing her for Coeliac, yes. And of course, yes we'd deal with it if she had Turners, but I'd rather she didn't!

Pictures, Turners is a syndrome that effects girls and along with short stature, means that they don't produce the hormones required for puberty and therefore are infertile . So don't worry, have you have a lovely DS, he can't get Turners.

[brettgirl2]

the amnio might not entirely rule it out but it would make it extremely unlikely. Plus if she is growing on the 0.4th centile then that is a normal growth pattern surely? 1 in 250 of healthy people would be as small. .... That's a good 250,000 people in the UK. And you have small relatives anyway, not as if everyone in the family is 6'

[Katnisscupcake]

Brettgirl2, absolutely!! And the parents of the other girl in the family who had to undergo similar tests, are also both 5ft 8. But of course in 'general' terms, they only take the parents' height into consideration.

Which really does seem crazy when certain physical characteristics are only seen in other relatives. For example, one of my sisters - there are 5 of us - has red hair! She is the only one of us in our immediate family with red hair, but my Uncle has red hair. So it's come from there.

Anyway, I digress. Thank you so much, even though in the back of my mind I already suspected this, it's so nice to think I'm not going crazy and that others suspect the same.

[undecidedanduncertain]

I was going to suggest a coeliac test as well. Does your DD have any other coeliac symptoms (anaemia, bloating, tummy aches, tiredness)?

[Katnisscupcake]

No nothing undecided, they asked loads of questions about her toilet habits etc. They felt her tummy and said it was completely normal, she goes to bed at 7pm and gets up at 7am and is never tired inbetween, NEVER has tummy ache (only had diarrhea twice when she had a D&V bug) and she eats a LOT of pasta with no ill effects. Also her weight is on the 9th centile and has been since she was 12 weeks old.

But they are testing for it anyway so it'll be something else that they can rule out if she doesn't have it.

[undecidedanduncertain]

Doesn't sound like coeliac then (although some people have no outward symptoms). I think you probably don't need to worry about Turners either from the sound of things. They are just being really thorough and ruling things out. That's good - you're getting a proper investigation.

FWIW, I wish we'd had such a thorough consultant when my DS1 first got referred to a paediatrician. His growth was tailing off, though that wasn't the main symptom. We spent a year and a half being fobbed off and told that it was our fault for not overcoming his fussy eating. Then, by chance, that paed was away and we got a different one - who sent DS straight for a whole set of blood tests - including one for coeliac. 2 years of gluten-free eating later and he's a totally different child. I dread to think what would have happened if we'd stuck with the same doctor.

If you self-referred, you must have had some concerns about your DD's heights. Hopefully all these tests will come back negative and you can be reassured that she's just at the small end of normal. But if you do find something, then you can do whatever's necessary to help her be as healthy as possible. It's a good thing either way.

[Katnisscupcake]

Undecided, I'm a real worrier and the only reason that I self-referred was because friends kept on asking us why DD was so small and was she premature. It made me really paranoid and then when the School HV said that they wanted to monitor DD for her height I decided to just get it sorted once and for all.

Neither us nor our families have ever worried about DD's height because DH's family are all so small. In fact my Mum couldn't understand why we self-referred, but she knows that I was getting fed up with people asking why she was so small all the time.

I'm so glad that things were sorted for your DS and that he's improved so dramatically. It must be a huge weight lifted off you.

[undecidedanduncertain]

Thanks Katniss. It's frustrating for you having to wait so long for the results. Although, in my experience, if it's bad news, they telephone straight away with the results, so having to wait can be a good thing. You could always ring and ask to be told the results over the phone?

[Elibean]

I think they're being cautious, and all is probably well, but waiting is always awful, especially for a child's results - hope they hurry up!

My friend's ds has the male equivalent of Turner's (can't remember the name of it) and she had CVS when pregnant, due to a previous Downs pregnancy. It didn't show up, so your paed is right - worth screening for everything, though the odds are hugely in favour of your dd being absolutely fine.

[hostilio]

For information about Turner Syndrome visit tss.org.uk. I had my Dd tested due to 2 reasons short stature (but she was not very short) and because she was very bad at maths. The result was positive. She has TS and it is really important to know early so the girls can get growth hormone treatment. The treatment works better when they are young.

[Deborahxc123]

@Katnisscupcake, sorry I just ran into this thread. My DD was small as well, so they refer her to do the test for Turner syndrome as well after her growth hormone test and coeliac test came back normal. May I know how things are going for the test and how is your DD doing now? thank you very much for the help