Turner syndrome

A missing or altered X chromosome in girls and women. Short stature and ovarian failure, plus a heart risk nobody should forget.

What it is

Turner syndrome affects around 1 in 2,000 girls. It is caused by one X chromosome being missing or altered.

The two features almost everybody knows are short stature and ovaries that do not develop, so puberty does not happen naturally and fertility is very rarely possible without donor eggs.

The feature that gets forgotten is the aorta. Aortic problems, including coarctation and dilation leading to dissection, are the leading cause of early death in Turner syndrome. Lifelong cardiac imaging is essential, and it is the surveillance most often lost when a young woman moves from paediatric to adult care.

Intelligence is usually normal. Specific difficulties with maths, spatial awareness and social perception are common, and get missed because overall ability is unaffected.

Signs you might notice

Short stature, becoming apparent in childhood.

Absent or incomplete puberty, and periods not starting.

A webbed neck, low hairline, and wide-spaced nipples in some.

Recurrent middle ear infections and progressive hearing loss.

Kidney abnormalities, hypothyroidism, coeliac disease and type 2 diabetes all occur more often.

High blood pressure, which needs treating aggressively because of the aortic risk.

How it can affect day-to-day life

The transition gap is the danger. A young woman leaves paediatric endocrinology at 18 and, without a clear adult pathway, the cardiac scans stop. Aortic dissection in a woman in her thirties who has not been imaged for fifteen years is a documented and preventable outcome.

Hormone replacement is needed from adolescence into at least the usual age of menopause, for bone health and cardiovascular health as well as for development. Stopping it early causes osteoporosis.

The social and spatial difficulties affect friendships and driving, and support for them is rarely offered because the label is a physical one.

Fertility is a substantial grief and is often addressed clinically rather than emotionally.

Supporting someone well

Keep the cardiac surveillance going for life, and specifically make sure it survives the move to adult services. Ask at every appointment when the next aortic scan is due.

Treat blood pressure firmly.

Continue hormone replacement until at least the usual menopausal age.

Screen annually for thyroid and coeliac disease, and check hearing regularly.

Address the maths and social learning needs at school explicitly. Our neurodiversity and SEND pre-screening covers cognition and social understanding together, which fits this profile.

Discuss fertility honestly and early, including donor egg options.

Any severe chest or back pain in a woman with Turner syndrome is aortic dissection until proved otherwise. Say the words at triage.

Where to get help

The Turner Syndrome Support Society UK provide family support and campaign on adult transition.

Ask for a named adult endocrinologist and a cardiac surveillance plan in writing before leaving paediatric care.

Sudden severe chest or back pain is a 999 call.