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Turner Syndrome



Turner Syndrome Causes


For people with the disease, cells are missing all or part of an X chromosome and only occur among females. The female patient usually has only one X chromosome while others may have two but incomplete.


Turner Syndrome Definition


A genetic condition, Turner syndrome is a disease in which a female does not have the usual pair of two X chromosomes.


Turner Syndrome Diagnosis


The disease can be diagnosed at any stage. It may be diagnosed before birth or during the prenatal testing. Tests such as blood hormone levels, echocardiogram, karyotyping, MRI of the chest, ultrasound of reproductive organs and kidneys as well as pelvic examinations may be done.


Turner Syndrome Symptoms and Signs


In young infants, the possible symptoms are swollen hands and feet as well as wide and webbed neck. Among older females, a combination of several symptoms may be seen. Among those are absent or incomplete development at puberty, broad, flat chest shaped like a shield, drooping eyelids, infertility, no periods, short height and vaginal dryness that can lead to painful intercourse.


Turner Syndrome Treatment


Children with Turner syndrome may be helped by a growth hormone to help them become taller. For girls, estrogen replacement therapy is often done at age 12 or 13. The procedure will help trigger the growth of breasts, pubic hair, and other sexual characteristics. Grown women who wish to conceive may consider using a donor egg.


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