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Y chromosome material. In a small percentage of Turner syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.
Effect of the chromosomal errors
The missing or altered X chromosome of Turner syndrome causes errors during fetal development and other developmental problems after birth - for example, short stature, ovarian insufficiency and heart defects. Physical characteristics and health complications that arise from the chromosomal error vary greatly.
Risk factors
The loss or alteration of the X chromosome occurs randomly. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development.
Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder.
Complications
Turner syndrome can affect the proper development of several body systems, but varies greatly among individuals with the syndrome. Complications that can occur include:
Heart problems. Many infants with Turner syndrome are born with heart defects or even slight abnormalities in heart structure that increase their risk of serious complications. Heart defects often include problems with the aorta, the large blood vessel that branches off the heart and delivers oxygen-rich blood to the body.
High blood pressure. Women with Turner syndrome have an increased risk of high blood pressure - a condition that increases the risk of developing diseases of the heart and blood vessels.
Hearing loss. Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. An increased risk of frequent middle ear infections can also result in hearing loss.
Vision problems. Girls with Turner syndrome have an increased risk of weak muscle control of eye movements (strabismus), nearsightedness and other vision problems.
Kidney problems. Girls with Turner syndrome may have some malformation of the kidneys. Although these abnormalities generally don't cause medical problems, they may increase the risk of high blood pressure and urinary tract infections.
Autoimmune disorders. Girls and women with Turner syndrome have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease.
Skeletal problems. Problems with the growth and development of bones increase the risk of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis). Women with Turner syndrome are also at increased risk of developing weak, brittle bones (osteoporosis).
Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. However, there is increased risk of learning disabilities, particularly with learning that involves spatial concepts, math, memory and attention.
Mental health issues. Girls and women with Turner syndrome may have difficulties functioning well in social situations and have an increased risk of attention-deficit/hyperactivity disorder (ADHD).
Infertility. Most women with Turner syndrome are infertile. However, a very small number of women may become pregnant spontaneously, and some can become pregnant with fertility treatment.
Pregnancy complications. Because women with Turner syndrome are at increased risk of complications during pregnancy, such as high blood pressure and aortic dissection, they should be evaluated by a cardiologist before pregnancy.
Негізгі бет 20. Turners Syndrome
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