Alternative Names
Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X
Symptoms
Possible symptoms in young infants include:
- Swollen hands and feet
- Wide and webbed neck
A combination of the following symptoms may be seen in older females:
- Absent or incomplete development at puberty, including sparse pubic hair and small breasts
- Broad, flat chest shaped like a shield
- Drooping eyelids
- Dry eyes
- Infertility
- No periods (absent menstruation)
- Short height
- Vaginal dryness, can lead to painful intercourse
Exams and Tests
Turner syndrome can be diagnosed at any stage of life. It may be diagnosed before birth chromosome analysis 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:
- Blood hormone levels (luteinizing hormone and follicle stimulating hormone)
- Echocardiogram (heart ultrasound)
- Karyotyping (chromosome analysis)
- MRI of the chest
- Ultrasound of reproductive organs and kidneys
- Pelvic exam
Turner syndrome may also alter various estrogen levels in the blood and urine.