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Diagnosis of Turner's syndrome

Diagnosis may be suspected by the presence of a number of typical physical features (for example webbed neck, a broad chest and widely spaced nipples). The two main clinical features of TS are short stature and the lack of the development of the ovaries.

Many girls are diagnosed in early childhood when a slow growth rate and other features are identified. Diagnosis sometimes takes place later when puberty does not occur.

Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet.

TS may be suspected, while the child is in the womb during an ultrasound test. This can be confirmed by chorionic villous sampling or amniocentesis. If a diagnosis is confirmed in the womb, the baby will be under the care of a specialist paediatrician immediately after birth.

 Diagnosis is confirmed by a blood test, called a karyotype. This is used to analyse the chromosomal composition of the female.

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