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Turner syndrome (TS) is a genetic condition that affects only women born genetically female. It happens when a baby is born with one of the X chromosomes partially or completely missing.Â
In this blog, we’ll explore what Turner syndrome is, its symptoms, how it’s diagnosed, and the treatments available.
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Whether you or someone you love has TS, or you’re just curious to learn more, this guide will provide insights into the condition.
What Is Turner Syndrome?
Turner syndrome is a rare condition, affecting about 1 in every 2,500 female births worldwide. It happens due to a problem with the X chromosome. Usually, girls inherit two X chromosomes—one from each parent—but in TS, one of these is missing or altered. This affects growth and development in different ways.
Although Turner syndrome is present from birth, its effects vary from person to person. Some girls may have noticeable symptoms early on, while others might not be diagnosed until later in childhood or even adulthood.
Turner Syndrome Mosaicism
In this type of TS, not all the cells in a girl’s body contain just an X chromosome. Some cells have two X-chromosomes and each cell-type co-exists side by side. This means that TS may not be diagnosed at a young age, because puberty still develops in the usual way and symptoms are milder. There can be good ovarian function, so it is still possible to become pregnant.
Menopause-like symptoms might present later than the classical type of turner’s syndrome.
What Are the Symptoms of Turner Syndrome?
Turner syndrome can cause a wide range of symptoms, but no two people with TS will experience it in exactly the same way.
Here are some of the most common signs:
Physical Features
– Short stature (most girls with TS are significantly shorter than average)
– A webbed neck (extra skin folds from the neck to the shoulders)
– A broad chest with widely spaced nipples
– Low-set ears and a slightly lower hairline at the back of the head
– Swelling (lymphedema) of the hands and feet, especially at birth
– Small or slightly drooping eyelids
Growth and Development
– Delayed or absent puberty
– Ovaries that don’t work properly, leading to infertility or subfertility
– Slow growth in childhood
– Bone development issues, leading to a higher risk of osteoporosis
Medical Conditions Linked to TS
– Heart problems, such as issues with the aorta (the main artery from the heart)
– Kidney abnormalities
– Increased risk of high blood pressure
– Thyroid issues
– Hearing loss
– Increased risk of diabetes
Learning and Social Differences
– Difficulty with maths and spatial reasoning
– Trouble understanding social cues, leading to shyness or social anxiety
– Good verbal skills and strong memory, meaning many girls with TS excel in reading and language
While these symptoms can sound overwhelming, not every girl with TS will experience all of them, and there are many ways to manage the challenges they may face.
How Is Turner Syndrome Diagnosed?
The diagnosis is confirmed using a blood test called a karyotype test, which examines the chromosomes to see if one X chromosome is missing or altered.
What Treatments Are Available?
Although there is no cure for Turner syndrome, treatments can help manage the symptoms and improve quality of life. Here are some common options:
Growth Hormone Therapy
Many girls with TS take growth hormone injections to help them grow taller. The earlier this treatment starts, the better the results.
Oestrogen Therapy
Since many girls with TS don’t go through puberty naturally, they usually need oestrogen therapy (a type of hormone replacement therapy) to help with breast development and bone health. This is often started around the typical age of puberty and continued into adulthood.
Fertility Treatments
Women with classical type TS are unable to conceive naturally because their ovaries do not function. It is still possible with the mosaic-type TS but it depends on how impacted their ovaries are. Some women explore the donor eggs and IVF (in vitro fertilisation) options.
Heart and Kidney Monitoring
Because TS increases the risk of heart and kidney problems, regular check-ups with specialists are important. Some girls may need surgery or medication to manage heart conditions.
Hearing Support
Hearing loss is common in TS, so regular hearing tests and hearing aids, if needed are important to put in place as soon as possible.
Mental Health and Wellbeing
TS is a huge diagnosis to be given, especially if it wasn’t even expected. Counselling and support groups are vital to help a woman come. to terms with the implications of TS.
Raising Awareness and Supporting Those with TS
Although Turner syndrome is not widely known, raising awareness can help ensure early diagnosis and better support. Here’s how you can help:
– Share Information: Talking about TS helps others understand the condition better.
– Join Support Groups: Organisations like the Turner Syndrome Support Society (TSSS) in the UK offer great resources.
– Encourage Early Diagnosis: If a child shows signs of TS, early testing and treatment can make a big difference.
Final Thoughts
Turner syndrome is just one part of a person’s story. It doesn’t define who they are or what they can achieve. If you or someone you love has TS, remember that you are not alone. There’s a whole community of people out there ready to support you.
Do you have any experiences with Turner syndrome? Feel free to share your thoughts or ask any questions in the comments below! And if you need support with HRT to manage symptoms, book an appointment with us today!
Until next time,
Dr Nikki
