Turner's Syndrome

Brief Information

Introduction

Turner's syndrome (TS) affects only females, and occurs when one of the two X chromosomes (a chromosome is a strand of DNA that exists in every cell in your body) normally found in females is completely or partially missing.

TS occurs in approximately one in 2,000 live female births.

When an X chromosome is completely missing, this is referred to as 'classical' Turner's syndrome. There are number of physical and medical features which may be present in a female with classical TS.

The most common characteristics include being shorter in height than average and lacking the development of the ovaries leading to infertility. These almost always occur. The number of other features or characteristics of TS varies greatly. Features can include an especially wide neck (webbed neck), a broad chest and widely spaced nipples, arms that turn out slightly at the elbow, a low hairline, low-set ears, and puffy hands and feet.

Occasionally there may also be heart problems, kidney and thyroid problems, bone disorders, and hearing and ear disturbances.

Sometimes there may be abnormalities in the X chromosome in only some cells in the body. This is referred to as mosaic Turner's syndrome and there may be few or no symptoms and fertility may not be affected.

Regular health checks and treatment may be necessary throughout life, but the majority of girls and women with TS lead normal, healthy lives.

Causes

Turner's syndrome is caused by the complete or partial absence of one of the two X chromosomes normally found in women.

It affects all races, nationalities and regions of the world equally and appears to happen randomly. It is not linked to the mother's age.

There are no known toxins or environmental factors that cause or increase the chances of Turner's syndrome.

Treatment

During childhood and adolescence, girls will visit a paediatric endocrinologist (a specialist in childhood conditions of the hormones and metabolism) at regular intervals.

Many girls have injections of growth hormone; ideally these should start around five years of age to help prevent short stature as an adult. This should continue until growth is complete. There is also the possible use of an anabolic steroid to promote growth.

Oestrogen replacement therapy is usually started at the time of normal puberty, around 12 years, with low but increasing doses, so starting breast development. Oestrogen and progesterone are given a little later to induce a monthly 'period', which is necessary to allow shedding of the lining of the womb and keep it healthy. Oestrogen is also important to prevent osteoporosis.

Babies born with a heart murmur or narrowing of the aorta occasionally need surgery to correct the problem. An expert cardiologist (heart expert) will assess and follow up any treatment necessary.

Children are more likely to get middle ear infections. These need to be treated quickly to avoid them leading to deafness. A referral to an ENT (ear, nose, throat) specialist may be necessary.

High blood pressure is quite common in women with TS and should be checked regularly and if necessary treated.

There is also a slightly higher risk of having an under-active thyroid or having diabetes, and this too should be regularly checked and treated if necessary.

Regular health checks are very important. Special TS clinics are available in some areas, with access to a variety of specialists. Early preventive care and treatment is very important.

Almost all women are infertile, but pregnancy with donor embryos may be possible.

With appropriate medical treatment and support, a woman with TS can lead a normal, healthy and happy life.

More Information

• Turner Syndrome Support Society

< Back