Turner syndrome is a genetic disorder and most pediatricians make the diagnosis based on the typical characteristics seen in the infant. The disorder only affects females and the characteristic features are webbed skin in the neck region, broad shield-like chest, swelling of the hands and feet, and small jaw.
Usually where Turner syndrome is concerned, pediatricians diagnose it at birth or when the baby suffers from associated problems like abnormal growth (short stature), heart problems, kidney problems or thyroid problems.
When a woman is pregnant, sometimes Turner syndrome is suspected during ultrasound. When this happens, the doctor will take sample of cells from placenta or amniotic fluid and conduct a chromosomal analysis. If the test is positive, the baby will be put under specialist pediatric care from the moment she is born.
Most babies and girls are under pediatric endocrinologist care and this continues right into adolescence. Girls with Turner syndrome are deficient in female hormones and need life long hormonal therapy. As mentioned earlier, Turner syndrome causes lack of growth, females suffering from this disorder are put on growth hormones. Growth hormone injections are given from childhood and may have a final say in the girl's adult height. Usually the pediatrician and endocrinologist will work together to ensure that the girl are completely healthy.
In addition, pediatricians have to carefully conduct regular health examinations to ensure that the girls and women do not have any associated problems. Babies with Turner syndrome may suffer from heart murmur or narrowing of the aorta. This would require corrective surgery and the pediatrician has to work in conjunction with a cardiologist for assessment and subsequent treatment.
Middle ear infections are also common among girls suffering from Turner syndrome. Frequent infections can lead to hearing loss and this has to be evaluated thoroughly by the pediatrician. If the doctor suspects anything serious, then an ear, nose and throat (ENT) specialist is roped in to treat the patient.
As it is clearly visible that Turner syndrome and pediatricians seem to go hand in hand because the girls need regular health check ups to ensure that no complications set in.
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