Turner's syndrome

Alternative names:

Bonnevie-Ullrich syndrome; gonadal dysgenesis; monosomy X

Symptoms:

• short stature
• webbed neck
• low hairline
• abnormal eye features (drooping of eyelids)
• abnormal bone development
• absent or retarded development of physical features that normally appear at puberty
• tearing, decreased
• menstruation, absent
• simian crease (a single crease in the palm)
• pectus excavatum (a "caved-in" appearance to the chest)

Signs and tests:

A physical examination reveals underdeveloped genitalia, webbed neck, short stature, and abnormal development of the arms.

• Karyotyping shows 45 chromosomes.
• Serum luteinizing hormone is elevated.
• Serum follicle stimulating hormone is elevated.

This disease may also alter the results of the following tests:

• estriol - urine
• estriol - serum
• estradiol - test