Symptoms:

Possible symptoms in young infants include:

• Swollen hands and feet
• Wide and webbed neck

A combination of the following symptoms may be seen in older females:

• Absent or incomplete development at puberty, including sparse pubic hair and small breasts
• Broad, flat chest shaped like a shield
• Drooping eyelids
• Dry eyes
• Infertility
• No periods (absent menstruation)
• Short height
• Vaginal dryness, can lead to painful intercourse

Signs and tests:

Turner syndrome can be diagnosed at any stage of life. It may be diagnosed before birth if chromosome analysis is done during prenatal testing.

The doctor will perform a physical exam and look for signs of underdevelopment. Infants with Turner syndrome often have swollen hands and feet.

The following tests may be performed:

• Blood hormone levels (luteinizing hormone and follicle stimulating hormone)
• Echocardiogram (heart ultrasound)
• Karyotyping (chromosome analysis)
• MRI of the chest
• Ultrasound of reproductive organs and kidneys
• Pelvic exam

Turner syndrome may also alter various estrogen levels in the blood and urine.