Turner syndrome 

Introduction 

Turner syndrome is caused by a completely or partially missing X chromosome in females 

Turner syndrome is a genetic condition that only affects females. The condition was named after Dr Henry Turner who discovered it in 1938. It is caused by an abnormal sex chromosome and affects about 1 in every 2,000 baby girls.

Most females are born with two X chromosomes. Turner syndrome occurs when one of the X chromosomes is completely or partially missing. Read more about the causes of Turner syndrome.

Characteristics of Turner syndrome

Girls and women who have Turner syndrome often have a wide range of different medical symptoms and characteristics. However, there are two characteristics that occur in almost all cases of Turner syndrome. They are:

  • being shorter than average in height 
  • a lack of development of the ovaries (reproductive organs), leading to infertility

As height and sexual development are the two main characteristics of Turner syndrome, the condition is often undiagnosed until a girl reaches school age or puberty (sexual maturity).

The other characteristics of Turner syndrome vary greatly. For example, the condition can cause heart, kidney and thyroid problems, as well as bone disorders and ear problems.

Read more about the symptoms of Turner syndrome.

Treating Turner syndrome

Girls and women with Turner syndrome will need regular health checks throughout their lives and treatment for any symptoms or conditions that develop. However, most are able to lead relatively normal, healthy lives.

The life expectancy of someone with Turner syndrome is slightly reduced, with some studies suggesting that people with the condition may die around 10 years earlier than those without the condition. Read more about treating Turner syndrome.

Types of Turner syndrome

There are two different types of Turner syndrome depending on how much of the X chromosome is missing.

  • In classic Turner syndrome an X chromosome is completely missing. 
  • In mosaic Turner syndrome a complete X chromosome is only missing from some cells. One X chromosome may be whole and the other may be partially missing or abnormal in some way. 

Last reviewed: 14/04/2011

Next review due: 14/04/2013