By: Ava Bleifuss

What is Turner syndrome?

Turner syndrome is a genetic condition that only affects females. According to the National Organization for Rare Diseases, over 70,000 women and girls in the United States have Turner syndrome, which is about 1 in 2,500 female live births.

How does someone get Turner Syndrome?

Turner Syndrome occurs when one or part of an X chromosome is missing. An X chromosome could be missing from all, or only some, of a female’s cells. In a normal situation, a female child receives one X chromosome from the mother and one X chromosome from the father, meaning she would have all of the genes needed. However, since people with Turner Syndrome are missing part, or all, of the X chromosome, some of their genes are missing. Usually after finding a chromosomal error the body would not allow that cell to continue in the process, but in very rare situations somehow the cell does continue and eventually leads to Turner Syndrome. 

What are the symptoms of Turner syndrome?

The majority of babies with this syndrome are lost to miscarriages or still births. However, some babies with Turner Syndrome do survive. For them, the symptoms of Turner Syndrome are physical features revolving around development, because some of the genes are missing from the DNA, which is the genetic makeup of humans. People with this have slowed growth as well as developmental problems. Studies have often shown that people with Turner Syndrome have heart problems or if they don’t, have higher risk of heart disease. 

What is the history of Turner Syndrome? 

Turner Syndrome was first discovered by Dr. Henry Turner who was a physician based in Oklahoma. Turner was a pioneer endocrinologist who spent his whole life studying endocrinology. It was first described in 1938 in his manuscripts, but the cause was not identified until 1959. He presented his observations describing seven patients with the same developmental and physical features. These symptoms had never been reported before. Turner later wrote over 30 publications discussing Turner Syndrome. 

What is the treatment for Turner Syndrome?

While there is no cure for Turner Syndrome yet, there are ways to help control the symptoms. Turner Syndrome affects a lot of the body’s growth. Most of the treatments are there to help make up for what was lost. Common things to use as treatment are growth hormones to help with height, and estrogen therapy which helps with starting puberty. Surgeries and medications are also common treatments for Turner Syndrome, but only when needed or a problem occurs. 

For more information, please visit:

• https://www.chop.edu/conditions-diseases/turner-syndrome 
• https://www.healio.com/news/endocrinology/20120325/henry-h-turner-md-the-man-behind-turner-s-syndrome 
• https://rarediseases.org/rare-diseases/turner-syndrome/#:~:text=Turner%20syndrome%20affects%20approximately%201,United%20States%20have%20Turner%20syndrome