Turner’s syndrome

What is it?

Turner syndrome[TS] is a relatively common chromosome abnormality that only affects girls. It is caused by the complete or partial deletion of the X chromosome in some or all of the cells of the body. The incidence of TS is approximately 1 in 2000 live female births. There are a number of physical features and characteristics associated with TS but it is rare that they will all appear in one child, but short stature and infertility are nearly always present. Providing diagnosis is made early enough there is the possibility of growth hormone treatment for short stature. In vitro fertilisation [IVF] treatment is also a possibility for infertility. There is no increased risk of mental retardation in those with TS; intelligence spans the normal range, although there may be some problems with spatial awareness.

The majority of girls and women with TS are healthy, happy and lead normal lives.

What causes it?

The cause of the missing or abnormal X chromosome is not known. No risk factors such as maternal age, diet during pregnancy etc have been identified with an increase in risk of having a baby with TS. It is an accident that happens during cell division after conception. Parents with a diagnosis of TS during pregnancy or after birth are advised to have genetic counselling so that they can receive clear, comprehensive and accurate information about TS.

TS is sometimes suspected during antenatal tests such as ultrasound or by amniocentesis and chorionic villus sampling. However, it is more usual for a diagnosis to be made later, after a baby is born, because the baby girl has certain features i.e. short wide neck, puffy hands or feet, widely spaced nipples and occasionally a heart problem.

It can be detected antenatally by amniocentesis and chorionic villus sampling.

Looking after a baby with Turner’s syndrome