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TURNER SYNDROME
Tests & diagnosis Turner syndrome can be diagnosed at any stage of life. It may be diagnosed before birth if 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 Karyotyping 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.
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
In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, the female patient has only one X chromosome. Others may have two X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with two X chromosomes, but other cells have only one.
