Turner syndrome

What is Turner syndrome?

Turner syndrome, also known as congenital ovarian hypoplasia syndrome, is the most common sex chromosome abnormality in females.

There are 46 chromosomes in all cells, which contain our genetic information or genes, which determine who we are. Usually, when a sperm fertilises the egg, it will donate an X or Y sex chromosome, which will join with the X chromosome of the egg and lead to the creation of a full set of DNA. This DNA will allow the cell to divide and eventually grow into a foetus and hopefully give a healthy baby. If the fertilised cell has XX sex chromosomes, the baby will be born female, while if the baby has an XY, it will be male.

In some cases, there is a random loss of one of these chromosomes, so the baby grows up with one less chromosome in its cells, also known as Barr body. You may see it written as 45 XO, which means that the female will have 45 chromosomes in her cells, rather than 46, as one of the two sex chromosomes is missing, so XO rather than XX. It may not be obvious early on in life, but a loss of genes will cause a group of abnormalities, which lead to what we call Turner syndrome. As this error can be in some or all cells, the severity of Turner syndrome can vary between different people.

What are the symptoms of Turner syndrome?

Only females can be affected with Turner syndrome and will have very distinct characteristics:

• Are usually shorter than average

• Have a short, thick neck

• A broad chest with nipples that are widely spaced from each other

• Ovaries do not develop properly and may not work fully

• A late puberty

• Are unable to get pregnant

• Also, these females are prone to developing other medical conditions, like:

• Ear infections and hearing loss

• Urinary tract infections that can happen several times

• Gain weight easily

• Heart and blood vessel problems

• May need glasses because of far or nearsightedness

• Diabetes

• Bone problems

• Difficulties with learning at school

How common is Turner syndrome?

It is believed that doctors find Turner syndrome in 1 of every 2000 female births and appears the same in all ethnicities.

What causes Turner syndrome?

This syndrome is not caused by anything that the mother or the father may have done and there is no one to blame. This is because of complete chance since biology is not perfect and errors can happen, a bit like glitches on a computer.

How is Turner syndrome diagnosed?

Turner syndrome can be found in pregnancy, where the doctor will take an ultrasound scan for any early defects in the baby. They will then take a sample of amniotic fluid and test it for genetic abnormalities. This is called karyotype test.

In some cases, Turner syndrome is missed at birth and not picked up by another doctor until other symptoms are found between the ages of 8 to 14, like a delayed puberty. This again would need a karyotype test to confirm.

Once the syndrome is confirmed, your doctor may ask to pass this information on to the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), which will help scientists find better ways of preventing and treating Turner syndrome. Although your information is very valuable in this research, it is not obligatory and you can opt out from passing on your data if you have any concerns.

How to treat Turner syndrome

Although there is no cure for Turner syndrome, there are some interventions to help girls and women with their symptoms:

• In girls, growth hormone can be continued until adulthood to help with stature

• Have regular checks of their heart, kidneys and reproductive system to treat and avoid any other conditions developing

• Medication and surgery to reduce heart and blood vessel problems in the future

• Special education and assessment at school

• Oestrogen therapy to help with development of puberty

• Vitamin D and calcium supplements to maintain healthy bones

Even if treatment is started early, Turner syndrome can cause life-changing conditions that may not be easily treated. But regular checks and treatment can help maintain a good quality of life and a near-normal life expectancy.

When should I seek help?

If there are any new symptoms that were not there before, please seek help, as Turner syndrome makes it easier to develop other medical conditions like the ones stated earlier. Also, Turner syndrome weakens the immune system, so routine infections are more difficult to fight off and may be fatal if not treated properly.

How can Livi help?

A Livi doctor can ask you questions about your symptoms and recommend a treatment or refer you to a specialist if needed.