Turner syndrome is a genetic disorder that causes problems with growth and health. This condition occurs only in females.
Our bodies are made up of cells. Inside the cells are tiny tubes called chromosomes. Every normal cell contains one pair of sex chromosomes. Usually, males have one X and one Y chromosome and females have two X chromosomes. In girls with Turner syndrome, one of the X chromosomes is damaged or missing. No one knows why the second sex chromosome is lost. Not having the second X chromosome causes these girls to have certain problems with growth and health.
A short height is very common. Only about 5% of girls with Turner syndrome will reach a normal height. Other symptoms vary from person to person and may include:
Nearly all females with Turner syndrome have problems with fertility. Problems with the heart, kidneys, thyroid gland, and bones are common. Some girls with Turner syndrome have learning disabilities. Turner syndrome is not a cause of intellectual disability, which used to be called mental retardation.
Turner syndrome may be diagnosed before a child is born with a chorionic villus sampling (CVS) or amniocentesis. These tests can check the baby’s chromosomes. Turner syndrome may be diagnosed when a child is a few months old if she has symptoms. Girls who do not grow normally or who do not develop during puberty may have a special test to check their chromosomes.
Hormone treatments will help your daughter grow taller, and help with bone and sexual development. Medicine and medical procedures may help women who want to have a child.
Girls and women with Turner syndrome should have regular physical exams. Problems with the kidneys, thyroid gland, and high blood pressure need to be watched carefully. Problems with heart valves and the aorta, the largest blood vessel in the body, are common with Turner syndrome. Surgery for heart problems may be needed.
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