Turner syndrome
There is no cure for Turner syndrome, but many of the associated symptoms can be trea ted.
Regular health checks and preventative care and treatment are important for girls and women with Turner syndrome. This is because of the risk of complications.
Some hospitals have dedicated Turner syndrome clinics with a number of specialists, including:
If a girl or woman is diagnosed with Turner syndrome, the following areas may be monitored throughout her life.
During childhood, middle ear infections (otitis media) are more likely to develop and need to be treated quickly. About half of all women with Turner syndrome lose their hearing at a faster rate compared with normal age-related decline.This can reduce their ability to interact socially.
High blood pressure (hypertension) is quite common in women with Turner syndrome, so it's important that blood pressure is regularly checked and treated, if necessary.This may be related to underlying heart or kidney problems.
Thyroid function tests can be used to assess how well the thyroid gland is working, as girls with Turner syndrome are at a slightly greater risk of havingan underactive thyroid (hypothyroidism).
The glucose levels in your blood or urine may be checked to screen for diabetes , a lifelong condition that causes your blood sugar level to become too high.
Women withTurner syndrome have an increased risk of developing osteoporosis (brittle bones) in late adulthood. Bone mineral density can be measured at regular intervals using a dual energy X-ray scan (DEXA scan) to assess any change with time.
An endocrinologist (specialist in hormone-related conditions) will be able to carry out tests and checks on a regular basis. They will also be able to recommend appropriate treatment, such as growth hormone therapy.
Girls with Turner syndrome are entitled to receive high-dose growth hormone therapy as soon as it becomes apparent that they're not growing normally. It will help reduce short height in adulthood.
Growth hormone therapy is a daily injection started at around five or six years of age or later. It is usually continued until the age of 15 or 16, helping them gain on average around 5cm (about 2 inches) in height.
Studies reviewed by NICE found somatropin increased height by around 5-9cm (2-3.5in).
There are a number of different types ofsomatropin available. The type used will be based on the needs of the individual following a discussion between the specialist and the girl and her parents, including any advantages and disadvantages of the treatment.
Treatment with somatropin should be stopped if:
Somatropin is usually given daily as a single injection. Parents can perform the injection or the girl can be taught to do it herself. The dose will depend on the girl's size.
Oestrogen and progesterone are the female hormones responsible for sexual development. Oestrogen is also important in preventing osteoporosis (brittle bones).
In girls with Turner syndrome, the ovaries (female reproductive organs) don't work properly. As a result, the girl may not go through puberty and is likely to be unable to have a baby without help (beinfertile).
Women with Turner syndrome will usually need regular sex hormone treatment until they're about 50. After this time, the body usually stops producing oestrogen and monthly periods stop. This is known as the menopause .
Oestrogen replacement therapy is usually started around the time of normal puberty. In girls, this is around 11 years old. It may be recommended that oestrogen replacement is started earlier in gradually increasing doses. Treatment will be tailored to the specific needs of each girl.
Oestrogen triggers the changes that usually happen during puberty, such as breast development. It's important for the health of the womb and bones (protecting against osteoporosis).
It can be given as a gel, tablet or patch. Low doses are used to start with, and gradually increased to adult levels with time and age to mimic normal puberty.
Progesterone replacement therapy is usually started after oestrogen therapy and will cause monthly periods to start. Italso may be given alone or combined in a tablet or patch with oestrogen.
Most women with Turner syndrome are infertile (unable to have children). A minority will be able to coneive naturally, so girls and women with Turner syndrome should have access to sexualhealth and contraception advice.
Assisted conception techniques, such as egg donation and in vitro fertilisation (IVF) , may be recommended for women with Turner syndrome who want to have children.
If a woman has Turner syndrome and becomes pregnant, she will need regular heart checks because the heart and blood vessels will be put under extra strain during pregnancy.It's vital that her womb is healthy and has developed fully during puberty for the pregnancy to be successful.
Some girls and women with Turner syndrome may develop psychological problems, such as low self-esteem or depression .
Doctors sometimes attribute these problems to physical appearance or infertility, but they are more commonly related to difficulties understanding other people's social behaviour and how to respond appropriately. Associated problems commonly arise at home, in school and in the workplace.
Psychological therapy, such as counselling or cognitive behavioural therapy (CBT) , may be recommended.
Most girls withTurner syndrome have a normal level of intelligence, but some may have specific learning difficulties and require extra support.
It's important to seek help if your daughter is affected. Not all aspects of ability are affected equally, so an experienced psychologist should be asked to give an opinion.
You can speak to your GP or health visitor, or the teacher at your child's school or nursery. The school or nursery should follow guidelines abouthow to assess and meet your child's special educational needs to ensure she gets the appropriate support.
Turner syndrome is a genetic disorder that only affects females. It causes a wide range of symptoms and some distinctive characteristics.
The symptoms of Turner syndrome vary depending on the age of the girl or woman affected.
Turner syndrome is a genetic condition caused by a missing or incomplete sex chromosome.
Turner syndrome is sometimes diagnosed before a baby is born, although it is often identified during childhood or at puberty.
There is no cure for Turner syndrome, but many of the associated symptoms, such as short stature, sexual development problems and learning difficulties, can be treated.