TURNER'S SYNDROME

THE BASICS

Turner's syndrome is a chromosomal abnormality which affcets 1 in 2500 females.  It affects the sex chromosomes.  Normal females are XX, but in girls with Turner's the 2nd X is missing (XO) or defective.  It was discovered by an American, Dr. Henry Turner, in 1938.

MY STORY

I was diagnosed in Feb 1999.  Given the statistic above, my freind in my biology A level class actually had it, and noticed my arms (see external signs below).  My G.P had a chromosomal analysis done, and the diagnosis was confirmed.  I was a bit annoyed the doctors hadn't picked it up before, but then they don't see it much!

OUTWARD SIGNS

There are some obvious outward signs, which a person who knows about Turner's will spot as being characteristic of the syndrome.  ALL girls with Turner's syndrome are short in stature.  The following not all have, but most have some: .Cubitus valgus (increased carrying angle at elbow, i.e forarms jut out) .Increased incidnece of pigmented nevi (moles)  .Low posterior hairline                .Small lower jaw                                              .High arched palatte                           .Spoon shaped nails                                          .Webbed neck

IINTERNAL PROBLEMS

There are also problems related to Turner's which are not so visible.  These include things such as horseshoe kidney, thyroid problems, heart abnormalities, particularly the aorta, and obviously, due to the chromasomal defect, infertility.  Many girls with Turner's syndrome also experience hearing and sight problems.

THE DOCTORS AND MEDICATION

Once diagnosed, every girl must see a peadiatric endocrinologist (a children's doctor specialising in hormones).  At puberty, oestrogen must be given to start devlopment of the breasts and reproductive organs, and to keep bones healthy.  Many girls have a growth chart, and when they start to deviate from normal growth rates, growth hormone can be given (daily injections).  I am lucky to come from Southampton originally, where there is one of the greatest specialists in Turner's in the country - Dr. Betts.  Some girls may also need to see a gynecologist (a doctor specialising in the female reproductive system).  I am seeing Mr. Saunders at the Princess Anne Hospital, Southampton. Once puberty has been enduced, hormone replacement therapy (HRT) is given long term, til about at least age 50, to protect against osteoperosis - it's not just for middle aged women!  It is important to maximise growth with growth hormone before initiating oestrogen therapy though, because oestrogen causes the gorwth plates to fuse, preventing further growth (this only happens gradually, however).

HOW TURNER'S SYNDROME HAS AFFECTED ME

Being only relatively recently diagnosed, I have had the joy of 17 years of not knowing there was a problem, and just getting on with life.  If I had known that I had Turner's earlier, I would not have tried so hard in Maths class because I would have known that we don't normally achieve well in that area.  Luckily, I did try, and gained an A at GCSE Maths and a C at A Level Pure Maths. Another problem with being recently diagnosed, though, is that I did not have the opportunity to take growth hormone.  I am lucky because my parents were tall, so I am 5' anyway. I did not have any of the heart or kidney problems.  I am short-sighted, but as my Mother is that would have probably happened anyway.  My thyroid is okay, and the only noticeable thing is my shortness. I am currently taking hormone replacement therapy, and probably will be for a long time, to help keep everything healthy.  I consider myself lucky to not have many of the complications I could have had with such an unknown abnormality. The Turner Syndrome Support Society is very helpful.  Please visit their website.

Write to me at: emma_burton@hotmail.com

Go to the Turners Syndrome Society of the U.S Homepage

Go to the U.K Turner Syndrome Society website

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