What you should know about Turner Syndrome

February marks Turner Syndrome Awareness Month. Here’s what you need to know about this relatively uncommon condition.

What is Turner Syndrome?

The Mayo Clinic defines Turner Syndrome as a chromosomal condition that affects only women. It affects one in every 2,000 to 2,500 live female births.

It occurs when a female’s second X chromosome is missing or partially missing. This happens when genetic information is dropped or lost during meiosis, the division of the sex cells.

There are two types of Turner Syndrome. One is known as classic TS, when girls are missing a complete X chromosome. Those who are only missing part of their second X chromosome have what is called mosaic TS.

Dr. Henry Turner was the first doctor to describe the condition in 1938.

Indicators

According to the Turner Syndrome Society of Canada, there are a number of indicators of Turner Syndrome. These include:

• puffy hands and feet during infancy
• heart abnormalities
• small stature
• failure to menstruate
• problems with fertility

Health complications

There are a number of complications that can arise from Turner Syndrome, and every case presents differently.

The most serious of these complications are heart defects such as bicuspid aorta.

Women with Turner Syndrome may also be at a greater risk for diabetes and low thyroid levels.

They may also not be able to begin puberty naturally, leaving them with a low rate of fertility.

There are also some social implications associated with the condition, such as difficulty with social skills, some learning disabilities and trouble with visual spatial processing.

Treatments

Testing can be done either when the baby is still in the mother’s womb, or after she is born.

It involves taking a sample of tissue, such as blood or amniotic fluid, and examining the chromosomes in the tissue in a test known as a karyotype.

There is no cure for Turner Syndrome, but it can be managed. If detected early enough, women can be put on a human growth hormone supplement to aid in growth. How long they stay on that growth hormone depends on the time of diagnosis.

“If they found out from an early age, we’d often start their growth hormone … somewhere between maybe four and seven years old, and then those girls would usually stay on it until they were 14 or 15 when they finished growing,” said Dr. Elizabeth Cummings, an endocrinologist at the IWK Health Centre in Halifax who works with Turner Syndrome patients.

Endocrinologists, cardiologists and others can help women monitor their health. Women may enlist the help of an obstetrician and gynaecologist as well if they wish to have children.

Turner Syndrome in Nova Scotia

Out of the approximate 6,000 women in Canada living with Turner Syndrome, about 150 to 200 of them live in Nova Scotia.

They would see a team of endocrinologists at the IWK as children, and then move on to the Victoria General hospital once they were adults.

No research is currently being done for Turner Syndrome in Halifax due to such a small sample size of women with Turner Syndrome in the province, according to Cummings.

However, in the past, Nova Scotian women with Turner Syndrome participated in a landmark study involving growth hormones. The study lasted nearly 20 years, beginning in 1989 and ending in 2007.

In the study, which was completed with participants from all over Canada, women were given either a growth hormone or a placebo treatment to determine the effectiveness of the growth hormone.

Other studies had been done, but participants were only put on the growth hormone for a limited time. This one was done until the participants reached their final adult heights.

“The Canadian study was the one that showed that, yes, it truly does work,” said Cummings. “It makes a difference on average of about seven centimetres.”