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«Turner Syndrome A Guide for Parents and Patients SERIES 1 SERIES 2 SERIES 3 SERIES 4 SERIES 5 SERIES 6 SERIES 7 SERIES 8 SERIES 9 SERIES 10 SERIES 11 ...»

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Schooling & Development Intelligence falls across the normal range and there is no increase of mental retardation in girls with Turner Syndrome. Progress at school is generally good and there are many girls who excel, although some do have specific teaming difficulties. Reading age is often advanced whereas writing age is usually delayed and there may be particular difficulties with mathematics and geometry.

There are many girls with Turner Syndrome who achieve university places and go on to further education in preparation for a professional career. Those individuals who do experience difficulties with word comprehension, planning skills, nonverbal tasks, as well as the lack of thought flexibility and social negotiating skills, benefit enormously from help on a one-to-one basis. If you are at all concerned that your daughter is not fulfilling her potential, you should discuss the possibility of having an educational assessment with the head teacher to see where help and support are needed. If it is appropriate, at your request, your specialist will write to the school to explain the problems and provide useful information for a school educational psychologist.

“Some old medical books describe Turner girls as mentally retarded.This is definitely not true. I have been predicted A’s and B’s for my GCSE’S and I believe I can do as well as any other person”.

ADOLESCENCE

The adolescent years can be a difficult time when there are changes to almost all aspects of a young person’s life; academic demands increase, social relationships become more complex and independence to some may seem daunting. Apart from maybe being smaller than their friends, other emotional problems may arise. Although many Turner Syndrome girls do overcome any learning difficulties with diligence, their social skills are not always well developed and friendships do not come easily, even in comparison with other short girls. In Denmark, where girls, with Turner Syndrome are encouraged to be particularly open and frank with their peers, they are found to make friends more easily and this is beginning to happen in England too. Girls with Turner Syndrome often find it difficult to be assertive which, as a positive feature, may help them cope better with adversity.

A teenager must be encouraged and supported to develop a sense of achievement and confidence in order to equip them to cope with the larger world outside their family.

They are, in general, very caring girls and many have successful careers in nursing.

“I was diagnosed when I was 11 years. When you are that age there are loads of problems on your shoulders with schoolwork, if you were diagnosed earlier it would help”.

GROWTH Short stature is the most common feature in Turner Syndrome and, in childhood, treatment to improve growth and height is an important aim. It should be remembered that parental heights, rather than an individual chromosome abnormality, affect the height of girls with Turner Syndrome and those with tall parents may not require treatment as they could attain a final height of 5’ 2” (157 cm). However, a girl with short parents may well, if untreated, reach only 4’ 2” (127 cm) and would therefore benefit much more from treatment to improve height. The average final height in women with Turner Syndrome is 4’ 8”(l42 cm) if they have not been treated. However, we believe this can be increased, possibly by as much as 3”(8 cm), with growth hormone treatment but this will depend on many factors such as the age at which growth hormone treatment was started.

Girls with Turner Syndrome are often small at birth but retain a normal growth rate until the age of about 2 or 3 years when their growth rate begins to slow down. As the years go by they become noticeably short in comparison with their friends. Even with oestrogen therapy, they have only a minimal growth spurt at puberty.

Treatment Since the mid 1980s there have been treatments developed that may help improve the growth of girls with Turner Syndrome. There are three treatments which are useful in promoting growth; growth hormone, oxandrolone (an anabolic steroid) and oestrogen.

The exact doses to use, the sequence and combination of the treatments as well as the age at which to start treatment, have not yet been fully established. Your specialist will discuss with you your child’s individual needs and therefore the best treatment approach to take. Although girls with Turner Syndrome do not have a deficiency of growth hormone, growth hormone is really the most Important treatment for improving final height. In addition, because of an abnormality of the bones which does not respond to normal levels of growth hormone, additional doses (pharmacological doses) of growth hormone seem to be needed to improve both the rate of growth and eventual final height. Although it is appreciated that such treatment does improve final height, probably by as much as 3” (8 cm), it is not yet possible to predict with certainty what final height will be achieved in each individual girl.

Oestrogens and oxandrolone are available as tablets and are taken by mouth whereas growth hormone has to be given by a daily injection, just under the skin (subcutaneously).

Details about injections, as well as different injection systems, can be obtained from your specialist as well as from the Child Growth Foundation.





Biosynthetic growth hormone is a relatively new drug and any new drug can carry the risk of unrecognised side effects. However, synthetic versions of growth hormone have now been used for a number of years in girls with Turner Syndrome without any serious side effects arising. There are theoretical risks about increasing the risk of developing diabetes, however, many studies have been carried out and there is still no evidence that growth hormone has any adverse effects. Giving subcutaneous injections can cause a localised skin reaction at the site of the injection but this can usually be treated by varying the injection site.

PUBERTY The ovaries normally perform two functions; storing eggs and producing the sex hormones - first Oestrogen and, later, progestogen. It is oestrogen that is required to start the process of puberty. In girls with Turner Syndrome, the number of eggs in the ovaries gradually diminishes during childhood, so the ovaries stop functioning properly well before the age that puberty would normally begin and, without replacement oestrogen therapy, puberty will not occur.

At the appropriate age for starting puberty, treatment with oestrogen will initiate breast development and later, with the combination of oestrogen and progestogen, they will start to have regular withdrawal bleeds or “periods”. Although girls with Turner Syndrome have non-functioning ovaries, it must be emphasised that they do have a normal uterus and vagina, and will therefore be able to have an entirely normal sex life.

In about 4% of Turner Syndrome girls the ovaries do retain sufficient activity to enable puberty to begin spontaneously, but only 1% will go onto have periods. Even in those women with Turner Syndrome who do start periods spontaneously, the ovaries are likely to stop functioning in early adult life.

Treatment When there is no ovarian function, puberty will only occur if replacement oestrogen therapy is given. The administration of oestrogen in gradually increasing doses over a period of two to three years will produce all the female sexual characteristics such as breast development, female body shape and the physical and emotional changes appropriate for the teenage years. Later, as the girl matures, the hormone replacement will also be important for sexual drive and function and oestrogen helps to provide sufficient vaginal secretions which make sexual intercourse more comfortable.

It is important to start the process of puberty at the appropriate age, ie. around 11 years, so that a girl with Turner Syndrome is able to start maturing, physically and emotionally, at the same time as her peer group. Towards the end of puberty, another hormone, progestogen, is added to the oestrogen treatment. This is important for maintaining the health of the uterus and in allowing the monthly withdrawal bleeds (periods).

NOTE: A number of girls do have spontaneous development of pubic hair, but this is caused by a hormone secreted from the adrenal glands and is not a sign that the girl is entering puberty.

FERTILITY Apart from the ovaries, women with Turner Syndrome have normally functioning reproductive organs, ie. the uterus and fallopian tubes, and so they will be able to have sexual relationships with their partners like any other female. However, because of the non-functioning ovaries, infertility is a common problem. There have been successful pregnancies reported using the technique of in-vitro fertilisation with donor eggs. The donor egg is fertilised with the partner’s sperm and the resulting embryo is then placed into the uterus of the woman with Turner Syndrome. This method of assisted pregnancy has been performed successfully in women with Turner Syndrome and so with these modern treatment techniques it is potentially possible for a woman with Turner Syndrome to have a child. In very rare cases, the ovaries start and continue to function and pregnancies can occur naturally in women with Turner Syndrome, although this is also rare. The aspects of fertility are covered in more detail in the booklet “The Turner Woman” (Series No. 9).

QUESTIONS AND ANSWERS

I. Q. Is my daughter a true girl?

A. Yes, in every way. The only difference is that her ovaries probably will not function and she will need replacement of the hormones which the ovaries normally make to bring about the physical changes from girl to woman.

2. Q. If the X chromosome has a Y fragment, is my daughter partially male?

A. No, she is definitely female. Identifying a Y fragment is important only because it may increase the potential risk of a cancerous change in the ovaries. The ovaries therefore will have to be removed.

3. Q. Will my daughter be able to have normal sexual relations when she grows up?

A. Yes, exactly the same as for any other woman. The vagina and uterus (womb) are entirely normal in women with Turner Syndrome. Of course, oestrogen replacement therapy will be needed which will also provide lubrication of the vagina enabling sexual intercourse to be more comfortable.

4. Q. Will my daughter be able to have children?

A. This is unlikely without medical help. Through specialised fertility techniques, and by using a donated egg from another woman, it is possible. You will need to discuss this with your daughter’s specialist.

5. Q. Will medication be needed throughout life?

A. There will certainly be a need to continue with oestrogen and progestogen treatment. This is both for sexual drive and function and to protect the bones from developing osteoporosis. However, growth hormone and oxandrolone treatments will finish when final height is reached.

6. Q. Why is the contraceptive pill used when my daughter is not fertile?

A. This aspect of treatment often causes the most confusion. A girl with Turner Syndrome needs replacement treatment of oestrogen and progestogen as her ovaries cannot supply these normally. This combination of hormones is the same as that used in contraceptive pills. Although the hormones are the same as those required for replacement therapy, the reason for their use is very different.

7. Q. Should medical checks be done throughout oestrogen replacement therapy?

A. Yes. Your daughter should see the doctor about every six months to have blood pressure and weight checks. Blood pressure should always be measured in the right arm. If she has heart or kidney problems, then these checks may have to be made more frequently and this is something your daughter’s specialist will discuss with you.

8. Q. Does Turner Syndrome effect intelligence?

A. No, intelligence is across the normal range. There may be aspects of learning which present more difficulties, particularly

Abstract

thought and reasoning connected with areas such as mathematics, hut this can be made up for by increased skills in other areas.

9. Q. Does my daughter have any special educational requirements?

A. There may be specific learning difficulties which can be quite subtle and difficult to identify but if you feel that your daughter is not fulfilling her potential, you can ask your specialist to write to the school and arrange for an assessment. Extra help on a one-to-one basis, where it is particularly needed, can make an enormous difference to your daughter’s progress.

10. Q. Are there any other difficulties?

A. There may be behavioural problems which, in a small but significant group, can be quite severe. These problems are very distressing for the child as well as being difficult for those around them. The need for professional help should be discussed with your specialist.

11. Q. Is there a normal life-span for a woman with Turner Syndrome? A. Yes.

12. Q. What are the main problems for a woman with Turner Syndrome likely to be?

A. Hopefully, if the diagnosis is made early, short stature will be less of a problem with the early initiation of treatment. As oestrogen is not produced by the nonfunctioning ovaries, oestrogen replacement will be needed from around the age of 11 years and will be continued throughout adult life. After the normal age of the menopause this will be as hormone replacement therapy (HRT). The main medical problems in adult hood will be the prevention of osteoporosis and the treatment of infertility. Both of these subjects are dealt with in more detail in the second Turner booklet “The Turner Woman”.

13. Q. When do I tell my daughter about her diagnosis and the full implications of Turner Syndrome?

A. It is best to be as open as possible and to discuss the condition of Turner Syndrome from the earliest age. Even if you think she is too young to understand the implications, this is often the best time. As she gets older she can ask questions suitable for her age and stage of development. Parents often find it difficult to discuss the subject but it can be started through simple explanations of why she is receiving medication. Any secrecy about the problem can lead to anxiety for the child and the parents.



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