Turner's Syndrome

Turner's syndrome (TS) is a relatively common chromosomal disorder which only affects females. It is caused by complete or partial absence of an X chromosome in some or all the cells of the body. Usually, women have 46 chromosomes in each arranged in 23 pairs, with the 23rd pair consisting of two X chromosomes. In women with TS one of these X chromosomes is partially or completely missing so that there is only one X chromosome instead of the usual two.

What is a chromosome?

When ultrasound is performed during pregnancy, TS is sometimes suspected if there appears to be fluid around the neck. Antenatal diagnosis to confirm this can be made by chorionic villus sampling (CVS) or amniocentesis. TS can also be diagnosed incidentally when CVS or amniocentesis are performed for some other reason such as inceased maternal age. However, many girls are only diagnosed later in life when they are investigated for short stature or the absence of the expected changes during puberty.

Chromosome changes such as Turner's syndrome are associated with miscarriage in early pregnancy: in other words, a significant proportion of affected pregnancies are lost naturally.

	Characteristics of Turner's Syndrome

People with TS have a characteristic appearance. They nearly always have short stature, together with minor changes to physique and facial appearance, such as a low hairline.

People with TS may also be affected by hearing problems and short sightedness. Some girls with TS may develop high blood pressure, kidney and urinary tract problems, thyroid problems, osteoporosis or diabetes. Behavioural problems and learning difficulties can also be associated with this diagnosis. The specific learning difficulties associated with TS include problems with spatial awareness and coordination, rather than intellectual limitations. Infertility, due to non-functioning ovaries, is a typical problem for women with TS.

Growth hormone can be used to help with growth but the results of this are variable and depend on many factors such as the age at which the treatment was started. Oestrogen therapy can be given to promote puberty. In adulthood, assisted conception may be available to overcome fertility problems.

In the vast majority of cases, women with TS can live a normal life, attending mainstream schools, working in ordinary jobs, and having successful careers, relationships and family life.

Find out more about Turner's syndrome from the Turner Syndrome Support Society