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Turner Syndrome
Alternate Names : Bonnevie-Ullrich Syndrome, Gonadal Dysgenesis, Monosomy X
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Turner Syndrome Diagnosis & Tests
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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- Rheumatoid Arthritis
- Neurologic Disorders
- Seizure Disorders
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• Definition
• Turner Syndrome Overview, Causes, & Risk Factors
• Turner Syndrome Symptoms & Signs
• Turner Syndrome Prevention
• Turner Syndrome Diagnosis & Tests
• Turner Syndrome Treatment
• Turner Syndrome Prognosis
• Turner Syndrome Complications
• Turner Syndrome Support Groups
• Calling Your Health Care Provider
• Pictures & Images
Topics that might be of interest to you Diseases & Conditions
• Arthritis
• Cataract
• Chronic Thyroiditis (Hashimoto's Disease)
• Diabetes
• Infertility
Tests & Exams
• Estradiol - Test
• FSH
• Growth Hormone
• Karyotyping
• LH Blood Test
Other Topics
• Dry Eyes
• Eyelid Drooping
• High Blood Pressure
• Menstruation - Absent
• Obesity
• Short Stature
Review Date : 2/5/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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