GPAtlas🧭 When to suspect
Turner syndrome is the complete or partial loss of one X chromosome in a phenotypic female. The classic karyotype is 45,X, but around half of cases are mosaic (e.g. 45,X/46,XX) or carry a structural X abnormality, producing a milder and easily-missed picture. It affects roughly 1 in 2,000–2,500 females and touches almost every system across the lifespan, so it needs lifelong, multidisciplinary care.
The single most important primary-care skill is recognition, because diagnosis is too often late – the median age at diagnosis is around 15 years, and some women are not diagnosed until adulthood. Short stature is the most consistent feature and is present in almost everyone; ovarian insufficiency (delayed puberty, primary amenorrhoea, infertility) is the second hallmark. A karyotype confirms the diagnosis.
| Life stage | Features that should prompt testing for Turner syndrome |
|---|---|
| Antenatal | Raised nuchal translucency or cystic hygroma, fetal hydrops, or a cardiac (coarctation) or renal (horseshoe kidney) anomaly on ultrasound. |
| Neonatal | Lymphoedema of the hands and feet, a webbed neck or redundant nuchal skin folds, or a left-sided heart lesion. |
| Childhood | Short stature or a falling height velocity, webbed neck, widely spaced nipples, a wide carrying angle, or recurrent otitis media. |
| Adolescence | Delayed or absent puberty, primary amenorrhoea (no periods by 15), absent pubertal growth spurt, or lack of breast development. |
| Adulthood | Short stature with primary ovarian insufficiency, unexplained infertility, or recurrent miscarriage – consider at any age, as late diagnosis is common. |
Have a low threshold in any girl with unexplained short stature (height below the familial range, or crossing centiles downward) and in any woman with primary ovarian insufficiency or unexplained infertility.
Source: International Turner Syndrome Consensus 2024 · NHS Genomics Education
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