Medicines for Turner syndrome

What it is

Turner syndrome is a genetic condition that affects only females, caused by one of the two X chromosomes being missing or partly missing. Its features vary, but commonly include shorter height than expected, and ovaries that do not develop or work fully, which usually affects puberty and fertility. Some girls and women have other features, such as differences in the heart or kidneys, hearing problems, or particular physical characteristics, and there can be a higher chance of certain conditions like an underactive thyroid or diabetes, which are monitored for. Intelligence is usually normal, though some have specific learning differences. It may be diagnosed before birth, in childhood (often when growth is slow), or later, using a blood test that looks at the chromosomes.

How it is treated

Care focuses on supporting growth and development and monitoring for associated health conditions, and is coordinated by a specialist team over life. Growth hormone treatment can help increase height, and hormone (oestrogen) treatment supports puberty and long-term health, including bone strength, usually started at the appropriate age. Fertility is often affected, and options and support are discussed sensitively. Regular monitoring covers the heart, kidneys, hearing, thyroid, blood sugar and bone health, so any problems are found and treated early. Educational and psychological support is provided where helpful. With good care, women with Turner syndrome lead full and healthy lives.