Hello, in this HealthSketch we want to talk to you about Turner Syndrome. Turner Syndrome is a genetic condition that only affects girls. It’s named after Dr Henry Turner, who discovered the syndrome in 1938. On average, for every 2000 girls born around the world, one of them will have Turner syndrome. Why does Turner Syndrome occur? Unlike other genetic conditions, it’s not inherited from parents, and has nothing to do with a mother’s
age or environment. Instead, it happens randomly based on how a girl’s genes are first formed. Our genes are like a code which determine how we look and how our body works. All of these genes are wrapped up in 46 chromosomes, which are found in every cell of the body. Of these 46 chromosomes, one pair is different between boys and girls – the sex chromosomes ‘X’ and ‘Y’. Boys have an ‘X’ and ‘Y’ chromosome, while girls have two ‘X’ chromosomes. In girls with Turner Syndrome the second ‘X’ chromosome is missing or altered in some way. Because of this, their body develops slightly differently. The syndrome is very variable, and some girls have very few symptoms. So what are the common features of Turner Syndrome? Nearly all girls are shorter than average, and their ovaries don’t work properly. The ovaries make the hormones oestrogen and progesterone. With less of these hormones, girls with Turner Syndrome may not have a growth spurt, and may not have periods as usual. There are also other more subtle physical differences, for example: having a wide neck,
or slightly puffy hands and feet. Sometimes these features can be picked up on a pregnancy scan, but Turner Syndrome is usually diagnosed after birth. In fact, diagnosis can happen at any age, and because the main features only occur at puberty, some girls aren’t diagnosed until they become teens. The test for Turner Syndrome involves analysing
the chromosomes from a blood sample – called “karyotyping”. There are also other symptoms that may occur with Turner Syndrome. These include weaker bones, hearing difficulties, or problems with the heart, kidneys, or thyroid gland. There may be specific differences with behaviour or learning, but overall, intelligence is not affected. This may seem like a long list, but most girls will only have a few features, so treatment will differ from person to person. For the main features of short height and ovary problems, hormone treatments can be used. Oestrogen and progesterone can be replaced by taking a tablet or patch. For short height, growth
hormone may be given by injection to help a girl grow as tall as she can. Nearly all girls with Turner Syndrome will also be infertile, but can still have children through techniques
like IVF. So, although there’s no cure for Turner
Syndrome, with treatment most girls are able to live long, normal and healthy lives. It is important to get routine check-ups by doctors to pick up on any potential problems early on. As Turner Syndrome can affect many different parts of the body, a team of specialists may be involved, such as: hormone specialists, psychologists, heart specialists, and kidney specialists. In this HealthSketch, we’ve talked about
the genetic cause of Turner Syndrome, The main features of short height and ovary problems, how this can be treated with hormone therapy, and the wider symptoms that can occur. We hope this HealthSketch has been helpful for you and those around you. HealthSketch – ‘Health for all to see’.