Turner`s Syndrome

Turner syndrome is usually identified during childhood or at puberty. However, it can sometimes be diagnosed before a baby is born using a test called amniocentesis.

Pregnancy and birth

Turner syndrome may be suspected in pregnancy during a routine ultrasound scan if, for example, problems with the heart or kidney are detected.

Lymphoedema, a condition that causes swelling in the body's tissues, can affect unborn babies with Turner syndrome, and may be visible on an ultrasound scan.

Turner syndrome is sometimes diagnosed at birth as the result of heart problems, kidney problems or lymphoedema.

Childhood

If a girl has the typical characteristics and symptoms of Turner syndrome, such as short stature, a webbed neck, a broad chest and widely spaced nipples, the syndrome may be suspected.

It's often identified during early childhood, when a slow growth rate and other common features become noticeable.

In some cases, a diagnosis is not made until puberty when breasts do not develop or monthly periods do not start.

Girls with Turner syndrome are typically short in relation to the height of their parents. But an affected girl who has tall parents may be taller than some of her peers and is less likely to be identified based on her poor growth.

There's no cure for Turner syndrome but many of the associated symptoms can be treated.

Health checks

Regular health checks and preventative care and treatment are important for girls and women with Turner syndrome. This is because of the risk of complications.

Some hospitals have dedicated Turner syndrome clinics with a number of specialists, including:

a paediatric endocrinologist – a specialist in conditions that affect the hormones of children and teenagers

a psychologist – a specialist in managing emotional, behavioural and educational problems

a gynaecologist – a specialist in treating conditions that affect the female reproductive system

a geneticist – a specialist in genetic and inherited conditions

a nephrologist – a specialist in kidney conditions who helps manage high blood pressure

an ear, nose and throat (ENT) specialist – who monitors ear conditions and hearing alongside an audiologist

an adult endocrinologist

a cardiologist – a heart specialist

an obstetrician – a specialist in pregnancy and birth

If a girl or woman is diagnosed with Turner syndrome, the following areas may be monitored throughout her life.

Hearing and ears

During childhood, middle ear infections (otitis media) are more likely to develop and need to be treated quickly.

Women with Turner syndrome can lose their hearing more quickly than people without Turner syndrome may do. This can reduce their ability to interact socially. 

Blood pressure 

High blood pressure (hypertension) is quite common in women with Turner syndrome, so it's important blood pressure is checked regularly and treated, if necessary. This may be related to underlying heart or kidney problems.

Thyroid gland

Thyroid function tests can be used to assess how well the thyroid gland is working, as girls with Turner syndrome have a slightly increased risk of having an underactive thyroid (hypothyroidism).

Glucose levels

Women with Turner syndrome may need to have their glucose levels in their blood or pee checked to screen for diabetes.

Bone mineral density

Women with Turner syndrome have an increased risk of developing brittle bones (osteoporosis) in late adulthood.

Bone mineral density can be measured at regular intervals using a dual-energy X-ray absorptiometry (DEXA) scan to assess any change with time.