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 development of the chest. Infants with Turner syndrome often have swelling of the hands and feet, probably reflecting changes in drainage in the lymphatic system.
- Karyotyping shows 45 chromosomes with a pattern 45 X,0 (i.e., a missing sex chromosome).
- Ultrasound may reveal small or underdeveloped female reproductive organs.
- A kidney ultrasound can evaluate kidney abnormalities.
- A gynecologic exam may reveal dry vaginal lining.
- Serum luteinizing hormone is elevated.
- Serum follicle stimulating hormone is elevated.
- Echocardiogram (heart ultrasound) and MRI of the chest are frequently performed after the diagnosis is made to evaluate possible cardiac defects.
This disease may also alter the results of the following tests:
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