Turner Syndrome

Turner syndrome is a disorder that only affects females, about 1 in every 2,000 baby girls. The cause is an abnormal number of the chromosomes that determine our sex, the X and Y chromosome. A girl has two X chromosome. Girls born with Turner syndrome miss one X chromosome or part of it. The chromosome variation happens around conception by coincidence.  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 pubertal development and infertility. Turner syndrome may be diagnosed when a girl to slow in length growth compared to what may be expected from the parent's length. Or later when sexual development is delayed. Other characteristics of Turner syndrome may be extra skin on the neck (webbed neck), and puffiness or swelling (lymphedema) of the hands and feet.  The diagnosis is established with a chromosome investigation. 

There's no cure for Turner syndrome but many of the associated symptoms can be treated. However, it's usually women with Turner syndrome lead a relatively normal and healthy life. Health can be improved with regular health checks to identify and treat potential problems at an early stage.  

Last modified
22 October 2019

Q96.9 Turner Syndrome

General Medical Guideline
Diagnosis is established when a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome, is associated with one or...