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Contents
RESEARCH
Exciting new Study
A Participants View
BSPED
Hopspital Information Packs
Top Idol
Open Days
Editor’s note – There has been some comment from members that by publishing research protocols and updates in ASPECTS means that the Society endorses that research. This is not necessarily correct - the aim is to inform members of current research in order to enable them to make an informed choice as to whether or not they wish to participate in research projects.
The benefit of growth hormone (GH) to the growth and final height (FH) of girls with Turner’s syndrome (TS) has been firmly established. However, two controversial issues continue to divide UK paediatric endocrinologists: namely, the impact on FH, if any, of oxandrolone and the timing of oestrogen induction. The UK Turner Study, which is being carried out on behalf of the British Society for Paediatric Endocrinology & Diabetes (BSPED), aims to resolve these issues. The design of the study has been extensively discussed in previous editions of the TSSS newsletter. However, for those not familiar with the study: girls with TS aged 7-14 years, who are receiving GH treatment but have no previous treatment with either oxandrolone or oestrogen, are randomly assigned to one of four treatment groups (see below). Placebo or “dummy” tablets are used to disguise which group girls are in.
GH Oxandrolone Oestrogen at 12 years |
GH Oxandrolone Oestrogen at 14years |
GH No oxandrolone Oestrogen at 12 years |
GH No oxandrolone Oestrogen at 14 years |
The study is not concerned with testing new drugs or unusual doses:
all the girls in the study receive GH at the current UK “best practice” dose of 10mg(30IU)/m2/wk
those receiving oxandrolone do so at a dose of 0.05mg/kg/day (maximum dose – 2.5mg/day), which has been used to treat various growth disorders, including TS, for several years & is not associated with any side effects
oestrogen treatment is given in the same gradually increasing dose regime to both the 12 & 14 year groups, to mimic natural pubertal development.
The study doesn’t ask those participating to have extra investigations or to see their consultant more often than would be considered “good care” of girls with TS. What is does ask is that girls & their families relinquish the control they would otherwise have over treatment choices. None of the 4 treatment regimes is “bad” and it may be that no one regime is better than the others in relation to FH. However, without disciplined studies such as this, the controversies surrounding growth-promoting treatment for TS will remain unresolved.
The study has been recruiting participants for 2½ years & will continue to do so until the end of this year. To date, over 60 girls have been recruited with several more having agreed to participate and awaiting enrolment. By the time recruitment ends in December 2002, it is anticipated that 100 girls will be enrolled. Since the study began in 1999, it has steadily gathered momentum and has now evolved into the BSPED’s flagship piece of research due, in no small part, to the generosity & support of girls in the UK with TS and their families. Without it, this study would not be possible.
If you are interested in becoming involved in the study or would like further information, please contact your paediatric endocrinologist or Emma-Jane Gault, the Research Assistant for the study, at this address:
Emma-Jane Gault, Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow, G3 8SJ
Tel: (0141) 201 6952
Email: EJ.Gault@clinmed.gla.ac.uk
The British Heart Foundation have granted an award to Dr Julia Ostberg, currently a Specialist Registrar in Endocrinology to research the “Characterisation of cardiovascular risk in adults with TS” This will be a two year study beginning in July and will be carried out at the Middlesex Hospital in London. Dr Ostberg will become a Clinical Research Fellow and will be working closely with Dr Gerry Conway. Some of you who attend the adult TS clinic at the Middlesex may be approached to take part in the study and others may receive a written request. Taking part will involve an echocardiogram, MRI of the aorta, ultrasound of arteries and a blood test for glucose insulin, cholesterol, kidney and liver function etc plus DNA/chromosome analysis [karyotyping has improved over recent years and more detailed analysis is possible now].
There will possibly be a smaller study [within the larger one] to look at different types of oestrogen and different doses for effect on arterial walls.
The Society welcomes this news and thank the BHF for funding this very important study. Dr Ostberg will keep us updated as the study progresses. We would also like to hear from you and your thoughts if you agree to take part in the study.
Prof David Dunger & team, Cambridge
from Dr Rakesh Amin
There are only 6 months left for this study and there is still a need for more volunteers to take part. A number of TSSS members have come forward and we thank them for their willingness to help in this important research project. Obviously we would like more people with TS to come forward and take part but appreciate they may have some concerns. Anyone who would like to know more about the study and detailed information of what is involved should contact me Dr Rakesh Amin on 01223 763404 or e-mail ra249@cam.ac.uk. I look forward to hearing from you.
from Naomi
Those of you who were at the Conference last year will remember Dr Rakesh Amin from Cambridge taking to us about the research he is undertaking into insulin resistance and the need for women with TS to take part. Following discussion with my parents, as parents too are asked to be involved, I decided to give it a go. After all what could I lose and any excuse for a day off work sounds good to me!
A date to suit me was arranged over the phone and accommodation was also organised for us. All we had to do was arrive. On a Monday evening last November, after following the easy to understand directions sent by Rakesh, we arrived at Addenbrookes. We were accommodated in the relatives rooms on site which were exceedingly homely and right next door to a lovely bar which also served a good variety of food.
The following morning we made our way to the research unit where we were met by very friendly nurses who couldn’t do enough for us. I felt quite nervous but was soon put at ease and once both needles were in I was very comfortable. After 2 hours of chatting and having a minute amount of blood taken every few minutes we were given a lovely lunch. After lunch I had a dexa scan to assess my bone density and fat distribution – this was very quick and absolutely painless. When this was done we were free to go – all those nerves for nothing! As we left we were told that an expenses cheque would arrive in the next couple of months and a cheque for £50 duly arrived as stated. We are eagerly awaiting the results of the research but as you will have read Dr Amin still needs more volunteers to take part and with only six months to go this is becoming urgent. So if you can spare a day and don’t mind having blood taken then please do contact Rakesh his details are above.
The following letter from the Secretary of the British Society For Paediatric Endocrinology and Diabetes was received in March. The TSSS Committee felt that they should share this good news with you.
“23rd March 2002
Dear Arlene
RE: AFFILIATION WITH BSPED
The BSPED values its important relationship with your Society with the common aim of working together to improve patient care.
After deliberation about the benefactorship scheme which is important to support the activities of the BSPED, it was felt that it would not be fair to request a similar contribution from yourselves as a charity. In recognition of our close association and to continue to develop this in the future, we would like to formalise our association by offering you honorary affiliation status.
This would entitle you to attend [on payment of appropriate registration fee] the BSPED scientific meeting and mount an appropriately sized exhibition stand at the autumn annual meeting. You would appreciate that the majority of exhibition space would need to be available to our benefactors under contractual arrangements.
We look forward to many years of continued close association.Yours sincerely
Dr Gary Butler
Consultant Paediatric & Adolescent Endocrinologist
The Committee are very pleased that the TSSS, being less than three years old, has achieved such recognition from such an esteemed professional body. They too look forward to working closely with the BSPED in the future to the benefit of all those with TS, especially the young girls and teenagers.
The packs have now arrived and will be sent out over the next few weeks. If you have ordered one and it hasn’t arrived by the end of August please phone the office 01389 380385 and let Arlene know. Similarly if you would like a pack to take to the clinic at your next appointment call the office and request one. The aim is to create greater awareness of the TSSS amongst health professionals and their patients.
Following on from last year’s successful Harry Potter competition the TSSS is hosting another competition for children on growth hormone treatment. Once again Pharmacia will sponsor the competition. This year’s competition will allow children on growth hormone the chance to display their performing skills in the form of a song, dance, poem or even short play. Paediatric consultants and nurses in all the growth clinics will ask children in their care if they want to enter the competition. There will be several age groups and each clinic will submit the best entry in each age group for final judgement.
Prizewinners will spend a day at a recording studio in the autumn and either make a video or CD to take home with them. Every child who enters will receive a certificate and small gift. Entry packs can be obtained from your clinic nurse or TSSS office.
Jemima writes:-
Well another great meeting for those with TS was held here in Belfast. It was nice to see some faces I knew and some new ones, it pleased me to meet adults with TS like myself, and of course to see Arlene and her daughters again. Without Arlene and the TSSS this meeting would not have been impossible. We also had a chance to meet Lynne, the editor of ASPECTS the TSSS newsletter which is very good, and each issue is a big event for me and sure to be a good read for all TS people.
Dr Mcmanus and her nurse Philomena were at the meeting also. They have set up a special clinic for adults with TS, so I am looking forward to their clinic where they will know more about TS, rather than the other clinics where possibly the doctors don’t know too much about the condition. Dr Carson who treats the girls with TS was also present and in turn was able to answer the Mums and Dads questions.
My friend Florence and her husband Ian were there with their daughter Catrina, aged 4, who has TS so it was nice for them to meet and discuss things with other parents. Catrina surely keeps her Mum and Dad on their toes and for the other parents who were there and whose daughters were younger than Catrina it was helpful for them to see Catrina and talk about when she was younger and the similarities in their own daughters. Another subject that came up for discussion was growth hormone treatment and Dr Carson was very good at explaining it but leaving the final decision to the Mums and Dads. He explains in a way that parents do not feel pressured or pushed into giving their daughter growth hormone, an option that only they can decide upon.
I could go on and on about the events of the day I for one certainly get a BUZZ from these meetings and can’t wait for the next one. Once again thanks to all who make these meetings possible and great days out for me and other TS folk.
Lynne writes:-
This was a first for the Society and designed to give those unable to come to the Conference a flavour of Open Days with their social element, combined with medical updates.
The first speaker was Dr Fred Kavalier a Consultant in Primary Care Genetics. He gave an excellent presentation in using simple slides to explain chromosomes and in particular the X chromosome. He was honest and told us that it is not really known how 45X happens but there could be several explanations which he went on to describe. His talk brought home to those present how important it is to have genetic counselling for both the parents of young girls with TS and also for adults with TS. Before taking up genetics Dr Kavalier had been a GP so was able to comment on some of the experiences that members had had with their GP prior to and after diagnosis. Hopefully he will be able to come to the Conference in the autumn.
Dr Gerry Conway, Consultant Endocrinologist, was the next speaker and he dealt with the management of adult TS. He went through the checks that the women should have annually – thyroid, diabetes, HRT and bone scans. Other checks and services that should be made available to adult women with TS are – audiology, fertility, cardiology, psychology and genetic counselling. He told us that at the Middlesex they would expect to see patients once every two years and the point of the clinic was to catch the small number of women with more complicated problems to ensure that they can be treated on a more individual basis. He said that women with TS should ideally have a bone scan and hearing test every five years and that blood pressure should be checked more regularly. Following his talk Dr Conway and those present entered into a lively question and answer session. He then introduced Dr Julia Ostberg who will be doing the heart study [see page 6]
Dr Ostberg explained a little about the study, she stayed for the whole day and spent time talking to members during the breaks.
Dr Peter Hindmarsh, Consultant Paediatric Endocrinologist, spoke after lunch. He gave a brief history of growth hormone treatment and talked about the recent NICE decision to recommend that GH treatment for girls with TS be continued. The rest of his session was taken up with debate about the various options available such as the use of oxandralone and the age at which to introduce oestrogen treatment. The debate was lively as there were a number of adults with TS present who had had a variety of treatments and in some cases no treatment at all!
Ms Melanie Davies was the final speaker of the day and spoke on fertility issues. Two important messages were that women with TS should always practice safe sex and that if contemplating IVF treatment must have health checks prior to embarking on IVF treatment. Most fertility unit doctors know about fertility but not about TS, and she recommended that women with TS should ideally give birth to their babies in an obstetric unit. IVF treatment is expensive and local conditions may apply for funding on the NHS, but in some areas TS is a condition where funding is agreed for IVF, it is always worth writing letters of appeal to those who hold the purse strings for IVF treatment. Ms Davies also entered into a lively discussion following her talk.
All in all a successful day which should have drawn to a close at 4.30pm but continued with a number of those who came staying on and chatting about what seemed like every subject under the sun. Which again proves that the social element of these days is so important.
Thank you to all the speakers who gave up a Saturday to come and talk to us, you are very much appreciated.
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