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Turner syndrome

• Overview
• Symptoms
• Treatment
• Prevention

Alternative Names:

Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X

Symptoms:

Possible symptoms include a combination of:

• Short height
• Webbed neck
• Drooping eyelids
• Broad, flat chest shaped like a shield
• Absent or incomplete development at puberty, including sparse pubic hair and small breasts
• Infertility
• Dry eyes
• Absent menstruation
• 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 karyotyping 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:

• Karyotyping
• Ultrasound of reproductive organs and kidneys
• Pelvic exam
• Serum luteinizing hormone levels (may be high)
• Serum follicle stimulating hormone levels (may be high)
• Echocardiogram (heart ultrasound)
• MRI of the chest

Turner syndrome may also alter the results of the following tests:

• Estriol - urine
• Estriol - serum
• Estradiol

• Review Date: 12/11/2006
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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