Turner syndrome

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Pectus excavatum

Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X

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

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.