Advanced search

Mumsnetters aren't necessarily qualified to help if your child is unwell. If you have any serious medical concerns, we would urge you to consult your GP.

Does anyone know anything about Turner's syndrome?

(15 Posts)
Dancergirl Thu 17-Dec-15 12:33:16

I've got myself into a bit of a state, hope I'm worrying over nothing and someone can reassure me.

My middle dd is 12 (13 in January). She has always been very short for her age but I always thought that was just normal for her. She saw a paed on and off between the ages of 2-8 to investigate her slow growth. I can't remember the exact details but everything was found to be ok and she was discharged.

She has dyspraxia and sensory issues and finds eating a wide range of foods very difficult. She also has a small appetite. I was worried this was affecting her growth but was told it wasn't and her diet was sort of ok.

Paed did mention Turner's syndrome around this time but he thought it was unlikely so didn't investigate further.

What's worrying me now is that although she started puberty around 11 or so, it's been very slow and no periods yet. I was just less than 12 when I started mine and I thought girls generally start 6 months earlier than their mothers on average. Dd1 started at 11 years 4 months.

Dd started growing breast buds about 11 but they're still very small and doesn't wear a bra yet. She tells me she has a bit of pubic hair.

I've read up a bit on Turner's syndrome and apparently girls can lack sex hormone which means sexual development can start but doesn't proceed normally and ovaries can be non-functioning.

Dh thinks I'm jumping to conclusions but I can't help worrying. Of course I will take her back to the GP/paed if necessary but as she's a worrier herself I want to get a bit of perspective first.

Jeanniejampots80 Thu 17-Dec-15 12:43:57

Hi, so obviously there is rarely anything definitive in medicine but in the case of turners syndrome there are usually quite obvious physical signs that any pediatrician should have been able to spot is she was attending one for years.

If they did any basic chromosome tests it would have shown up even on the simplest of tests and people would often do that in investigations for growth delay. If you are still worried it would be a simple thing to go see the pediatrician again about your new concerns and they could test quite easily but its unlikely even though it is always possible (a tiny percentage)

Dancergirl Thu 17-Dec-15 12:52:26

I think dd did have a blood test when she was about 4 or 5 but I can't remember what they were testing for.

Do you think it's unusual for puberty to be slow and periods starting much later than mine did?

latrilllis Thu 17-Dec-15 13:17:02

I think the puberty bit is a red herring. It's partly genetic and partly individual so the six months earlier than your mother is nonsense. (Eg my mother was 13, my sister 14, I was 15!)

As Jeannie posted, Turner's would be fairly obvious. Can you go back to the clinic she attended when she was younger and ask whether she was tested at the time?

Naty1 Thu 17-Dec-15 13:22:21

i think i may have read periods start when you hit a certain weight. so i guess if she is smaller and thin this may delay it.

Raxacoricofallapatorius Thu 17-Dec-15 13:23:31

You are worrying and therefore, I'd go back to the Gp. My lovely mate- also a MNer- has a DD with Turner's who was diagnosed later. There were, in retrospect, clear indications. There is nothing to lose by going back to the GP.

Jeanniejampots80 Thu 17-Dec-15 14:09:27

The puberty thing by itself is not worrying. I have personally never heard the 6m rule and I have worked in this area. They probably already ruled out turners as that blood test was probably chromosomes but in order to reassure yourself I would go back to GP/Paed as they will have copies of the results from before.

Dancergirl Thu 17-Dec-15 15:23:00

I don't think they checked for Turner's at the time, it was just mentioned in passing.

The weight thing - I've heard 7 stone before periods starting but have also heard there is no scientific proof of this. Dd is certainly not skinny, she is probably over 7 stone. Just short and she hasn't had a typical growth spurt you get at puberty.

tobysmum77 Thu 17-Dec-15 22:20:16

I have no idea about Turners but my periods started later than my mother's by 18 months. The 6 months thing can't be true or in only 24 generations it would be at birth.

Dancergirl Thu 17-Dec-15 22:30:39

That's very true tobys why didn't I think of that??

HamaTime Thu 17-Dec-15 22:37:42

The dr will have a record of whether Turners was tested for so you could easily check that without having to get your dd back to the GP.
A friend's DD had mosaic Turner's syndrome and it wasn't obvious at all that she had it. It can be very mild, depending on how many cells are affected. It's also not as straightforward to test for as the type where it affects all your cells because more cells need to be tested.

grumpysquash2 Fri 18-Dec-15 18:10:05

Turner syndrome is where you only have one X chromosome instead of two. It is very easy to test for.
Girls with TS often have a distinctive look, involving low set ears and a wider neck than usual.
It's very rare though, something like 1 in 5000

cestlavielife Fri 18-Dec-15 22:34:54

She us not yet 13. My dd 13.7 is only just now having growth spurt. But go back on your own no need to worry dd and get all records so you can check what was tested for

dratsea Sat 19-Dec-15 10:04:22

Posting to try to reassure you but if too much detail please ignore: If by paed you mean a Consultant Paediatrician and chromosomes were not done then you probably fuss too much. To reassure you, the webbed neck (in my limited experience) is clear and the carrying angle (hands by side, arms stick too far out) was usually noticed by parents. The nipples are supposed to be too far apart but not obvious to me. But as you are aware they tend to have other (surgical) problems which is why I met them (genetic diagnosis already made by my more theoretical colleagues.) Essentially pretty obvious by time of expected onset puberty and yes, a cause of delayed puberty but there is far more (and normal) variation in onset that you might expect and there are many more (common) reasons if puberty is significantly delayed. But hopefully, and the reason you post, a parent of a daughter with Turner's will be along shortly and give you a better insight into how the breast buds develop, in Turner's.

grumpy at risk of worrying op about rare things in my mind I had the incidence of Turner's in UK as a bit more common than say Hirschsprung's which is the commonest (surgical) cause of neonatal bowel obstruction and I had Hirschsprung's at 1 in 5000 but perhaps like me you are trying to reassure her on the basis of limited information. (Hirschsprung's is a bit more common around Gloucester but that was my area of research in both senses of the word area)

grumpysquash2 Sat 19-Dec-15 14:07:27

I have spent my whole career in Genetics, so I wouldn't say that I have 'limited information'

Join the discussion

Join the discussion

Registering is free, easy, and means you can join in the discussion, get discounts, win prizes and lots more.

Register now