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Turner syndrome can be diagnosed at birth or during childhood, puberty, or adulthood. It can be diagnosed before birth if a karyotype is performed as part of prenatal testing.
During a physical examination, the doctor will look for signs of underdeveloped breasts and genitalia, webbed neck, short stature, low hairline in back, simian crease (a single crease in the palm), and abnormal bone development of the chest.
Infants with Turner syndrome often have swollen hands and feet. This is probably from changes in the drainage of the lymphatic system.
The following tests may be performed:
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Karyotyping to look at chromosomes
- An ultrasound to look for small or underdeveloped female reproductive organs
- A kidney ultrasound to evaluate kidney abnormalities
- A gynecologic exam to see if the vaginal lining is dry
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Serum luteinizing hormone levels -- may be high
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Serum follicle stimulating hormone levels -- may be high
- An echocardiogram (heart ultrasound) and MRI of the chest are frequently performed after the diagnosis is made to evaluate possible cardiac defects
Turner syndrome may also alter the results of the following tests:
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