Turner syndrome (TS)

Overview

TS is one of the most common types of growth failure and short stature in girls and women, affecting 25–50 per 100,000 females. On average, girls with TS tend to reach an adult stature that is 20 cm less than target height. Other developmental problems may also occur leading to significant challenges for the girl’s health and wellbeing.

Cause

The cause of TS is not fully understood; however, we know it is the result of a genetic issue. Girls with TS lack some sections on the X chromosome.

Symptoms

Girls that are shorter than expected is a key sign of TS. A number of other symptoms may be present, including eye/ear malformations, heart problems and unexplained delayed puberty.

Diagnosis

If TS is suspected by the doctor, a process called karyotyping is performed. All of the chromosomes are looked at in detail by analysing a sample of blood. If a diagnosis is made at birth or during early childhood, growth promoting therapy can be given. When the TS diagnosis is made in late childhood or early adolescence, growth-promoting therapy is needed, perhaps with higher than-usual doses of growth hormone. It is crucial to diagnose TS sooner rather than later.

Calculate your child’s growth

It is important to keep track of your child’s growth in order to identify if there is a problem early on. We recommend measuring your child every 6 months, which is now easier, with our simple to use growth calculator.

Get prepared for talking to your doctor

If you are concerned about your child’s growth, don’t hesitate to speak with an HCP. They will be able to complete some measurements and investigate further if needed, potentially referring you on to a specialist. Here we can help you plan for both conversations.