How is Turner syndrome diagnosed?

A diagnosis of Turner syndrome may be suspected when there are a number of typical physical features observed such as webbed neck, a broad chest and widely spaced nipples. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet.

The two main clinical features of Turner syndrome 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.

Turner syndrome may be suspected in pregnancy during an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to obtain cells from the unborn baby for chromosomal analysis. If a diagnosis is confirmed prenatally, the baby may be under the care of a specialist pediatrician immediately after birth.

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