Turner Syndrome: Unique as a Butterfly

Turner Syndrome is a genetic condition, a difference in the number or type of sex chromosomes, in those assigned female at birth. Usually there are two copies of the X chromosome in each cell. In those with more “classic” Turner Syndrome, there is only one copy of the X chromosome in each cell.

There are also forms of Turner Syndrome in which both X chromosomes are present but did not form correctly or are missing parts. Mosaicism is also possible, where some cells have two X chromosomes and some have one. Turner Syndrome is relatively common, occurring in about 1 in 2,500 female births.

Turner Syndrome is associated with a higher risk of certain medical conditions including growth and puberty problems, thyroid problems, diabetes, heart problems, kidney problems, learning difficulties, and loss of fertility. Not every child with Turner Syndrome will have all of these other medical conditions, but it is important to routinely monitor for them.

How is Turner Syndrome Diagnosed?

Turner Syndrome can be diagnosed at any age through a simple blood test called a karyotype. A karyotype counts the number of chromosomes in each cell.

As genetic testing is becoming more common during pregnancy, some children with Turner Syndrome may be diagnosed before they are born.

What are the Symptoms and Signs of Turner Syndrome?

A physician or health care provider may order a karyotype to look for Turner Syndrome if a child has certain clinical features or conditions. Every child with Turner Syndrome may have a different combination of features. By age group, some common features include: 

• Infants: puffy hands and feet; short fingers and toes; certain structural heart problems
• Toddlers and school-aged children: learning difficulties; hearing loss or recurrent ear infections; short stature (especially if much shorter than expected as compared to other family members)
• Teenagers and adolescents: short stature; delayed or absent puberty; stopping of periods after they first start

What is the Treatment for Turner Syndrome?

There is no cure for Turner Syndrome, but any associated medical conditions can be treated or supported. Some examples may include:

• Growth hormone therapy for short stature
• Estrogen replacement for puberty
• Regular imaging for heart problems
• Extra assistance in school to help learning
• Fertility counseling

What Support Exists for Turner Syndrome?

If your child has been diagnosed with Turner Syndrome at any age, it is important to remember that they are not alone and that children with Turner Syndrome can, and do, live happy and productive lives. Across the country, there are many clinics that provide comprehensive care for children with Turner Syndrome, including one at Nationwide Children’s Hospital. There are also many support and advocacy groups including the Turner Syndrome Foundation – the symbol of this foundation is a butterfly, representing strength, perseverance, and hope.