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Turner Syndrome

Medical Questions » Turner Syndrome
Name: Turner Syndrome
Also known as: XO Syndrome
Rare defect in sex chromosomes.
Causes of Turner Syndrome
The person is born with only one X chromosome (XO), and no matching X or Y sex chromosome. The sex chromosomes are named X and Y. Normally two X chromosomes (XX) occur in a female, and one of each (XY) in a male.
Symptoms of Turner Syndrome
Patients look female, but are really asexual, as they do not develop testes or ovaries and are infertile. At puberty, the breasts and pubic hair fail to develop, the genitals remain child-like in appearance, and menstrual periods do not start. Other signs are short stature and a web of skin that runs from the base of the skull down the neck and onto the top of the shoulder.
Tests for Turner Syndrome
Diagnosis confirmed by blood and cell tests that show the chromosome structure.
Treatment for Turner Syndrome
Giving female hormones (oestrogens) in a cyclical manner from the time of expected puberty to encourage the development of female characteristics. Growth hormone can be used to improve height, and surgery can correct the heart defects and neck webbing.
Complications of Turner Syndrome of its treatment
Eye disorders, heart valve defects, narrowing of the aorta (main body artery), a stocky chest, the early development of diabetes and thin frail bones (osteoporosis).
Likely Outcome of Turner Syndrome
Patients can function as females in every way except fertility, and can lead a normal life.
       
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