Turner syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Pectus excavatum

Turner syndrome

Alternative Names:

Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X
Symptoms:

Possible symptoms include a combination of:

Short height
Webbed neck
Drooping eyelids
A "shield-shaped", broad, flat chest
Absent or incomplete development at puberty, including sparse pubic hair and small breasts
Infertility
Dry eyes
Absent menstruation
Absent normal moisture in vagina; painful intercourse

Signs and tests:

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Turner syndrome can be diagnosed at birth or during childhood, puberty, or adulthood. It can be diagnosed before birth if a karyotype is performed as part of prenatal testing.

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 bone development of the chest.

Infants with Turner syndrome often have swollen hands and feet. This is probably from changes in the drainage of the lymphatic system.

The following tests may be performed:

Karyotyping to look at chromosomes
An ultrasound to look for small or underdeveloped female reproductive organs
A kidney ultrasound to evaluate kidney abnormalities
A gynecologic exam to see if the vaginal lining is dry
Serum luteinizing hormone levels -- may be high
Serum follicle stimulating hormone levels -- may be high
An echocardiogram (heart ultrasound) and MRI of the chest are frequently performed after the diagnosis is made to evaluate possible cardiac defects

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