Turner Syndrome

February is Turner Syndrome Awareness Month and this page has useful information on what it is and where to get help, as well as a personal story from one of our YOL! members who has Turner Syndrome and our new campaign #Aturnergirlcan .

What is Turner syndrome?


Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby

girls.

A girl with Turner syndrome only has 1 normal X sex chromosome, rather than the usual 2.

This chromosome variation happens randomly when the baby is conceived in the womb. It is

not linked to the mother's age.


Read more about the genetic causes of Turner syndrome


Characteristics of Turner syndrome


Females with Turner syndrome often have a wide range of symptoms and some distinctive characteristics. Almost all girls with Turner syndrome:

  • are shorter than average
  • have underdeveloped ovaries, resulting in a lack of monthly periods and infertility

As height and sexual development are the 2 main things affected, Turner syndrome may not be diagnosed until a girl fails to show sexual development associated with puberty, usually between the ages of 8 and 14 years.


Other characteristics of Turner syndrome can vary significantly between individuals.


Read more about the symptoms of Turner syndrome and how Turner syndrome is diagnosed.


Treating Turner syndrome


There's no cure for Turner syndrome but many of the associated symptoms can be treated.


Girls and women with Turner syndrome will need to have their heart, kidneys and reproductive system checked regularly throughout their lives. However, it's usually possible to lead a relatively normal and healthy life.


Life expectancy is slightly reduced, but it can be improved with regular health checks to identify and treat potential problems at an early stage.


Read more about treating Turner syndrome.


National Congenital Anomaly and Rare Disease Registration Service

If you or your daughter has Turner syndrome, your clinical team will pass information about you/your daughter on to the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS).


The NCARDRS helps scientists look for better ways to prevent and treat Turner syndrome. You can opt out of the register at any time.

We asked a YOL! member what is was like when they were diagnosed with Turner Syndrome and what it actually means for them:


"I was diagnosed with Turner syndrome when I was around 10 years old. I went to a doctor because l was really short, especially in comparison to my family. The doctor instructed me that l needed to have blood tests done. A few weeks later, the doctor found out that l had a thyroid issue and shortly after that, I was diagnosed with Turner syndrome.

Finding out was a rather strange feeling. It was kind of surprising, but also somewhat expected.


The first few months, were very confusing for me. I did not understand what type of things l would have to do as a result of having Turner syndrome and how it would impact me in the future, especially being a teen. But l had an excellent doctor and a team of nurses who explained it all. I was booked to attend appointments that were all based further away than where l lived. This became a regular thing, I still go to an Endocrinologist and have blood tests every 6 months, then to an E.N.T (ears, nose and throat) appointment every 6-9 months and further additional appointments because of my coeliac (also common when you have Turner syndrome.)


Having Turner syndrome does not really impact my daily life at the moment, but there are one or two things that do. For example, I have to deal with extremely irregular periods causing me to have leaks. I also have to take regular medication such as growth hormones and oestrogen."


Our YOL! members tips for people with Turner syndrome: 


  • Don’t let being short or any other symptoms get to you, you are beautiful just the way you are!
  • If your period is extremely irregular, track it using 'Flo' app and tell your nurse.
  • If your condition is impacting your mental health, please tell your doctor/a psychologist.
  • If you need to talk to other people who might be going through a similar thing, join the Turner Syndrome Support Society



"It is really important for girls to get diagnosed as soon as possible so treatment can begin and they get the best results, so l am really happy and excited to be able to raise awareness of this condition".


Thanks for reading and I hope this helps! - from our YOL! member



The Turner Syndrome Support Society is a national charity caring for the needs of those with Turner Syndrome throughout the United Kingdom.

We asked a yol member popular questions about what it is like living with turner syndrome as a teen. 


How does it affect your everyday life 


Having Turner does not affect my everyday life other than I have to take regular medication.each day.

How does it make you feel when you get diagnosed ?

It depends on each person. I was surprised but not too surprised and a bit confused. Normally each reaction tends to be on how much you expect it. 


Do you feel that you have the support system you need ?


Yes,I can ask questions to my nurse or I can speak to people who have gone through a similar situation to me.
How does growth hormone affect you ?

you can have growth pains and even regular headaches. If you have headaches than you should let your nurse know. 


When do I stop/add certain medication ?


Medication is different for everyone but for me, I would have to start growth hormone from young but I started at 10 and finish around 14,I will constantly have to have levothyroxine every day until death and estrogen I got at the age of 11 and I find out. I will need to have progesterone. 


How many hospital appointments do you go to in a 


year ? ENT( Every 6 months but used to be 9)Endocrinologist (every 6 months ) heart (varies on year and situation but normally 6 months) 


What’s the worst thing about having Turner Syndrome ?


The waiting around the hospital  and missing school especially as I got older because the curriculum is getting harder and exams are coming.


Share by: