Turner syndrome
Turner syndrome is a genetic disorder which occurs in females. When an embryo is formed in the uterus, they are given a pair of sex chromosomes to determine whether they are male or female. The male receives XY chromosomes and the female receives XX chromosomes. In Turner syndrome females are missing either a portion or all of one of the X chromosomes in their cellular structure. This syndrome is the most common genetic sex chromosome abnormality that is found in female children today. Turner Syndrome occurs in 1 in approximately 2,000 births.
There are physical factors that can be seen at birth or during childhood that can lead a physician to diagnose this syndrome. Infants with Turner Syndrome will have very short stature, frequently have swollen hands and feet and a squatty neck that may appear webbed in nature. Other signs that can lead to diagnosis can include a low hairline and low set ears. Children with this syndrome have a very broad chest and a low set nipple line where the nipples are set more widely apart than normal.
As a child grows other signs and symptoms will show themselves. These include short stubby fingers and very small fingernails. The ring fingers are shorter than normal. They can also have eyelids that droop and they will remain very short in stature compared to their peers. These girls will not have menstrual cycles. Their sexual organs will not develop during puberty. They will not develop breasts like other girls. They will have little or no development in their genital organs.
Some ways that Turner syndrome can be diagnosed include doing an amniocentesis during pregnancy if the couple suspects that their chances of delivering an infant with chromosomal abnormality is increased. After a child is born, physicians can run different tests to diagnose this problem. A visual examination for the physical abnormalities should be done first. Later testing can include a pelvic exam and blood work to test hormone levels. They are especially interested in the follicle stimulating hormone and the luteinizing hormone levels. They can do tests to check for chromosomal abnormalities in infants and older children. They can also test for other internal organ abnormality including ultrasounds of the pelvic and abdominal organs. These organs can be affected in this syndrome.
Females who have Turner syndrome are prone to having other issues and diseases due to their chromosomal abnormalities. One of the most prevalent complications that can occur due to this disease are lack of sexual maturity and infertility due to that. Other diseases that can occur as a complication of this syndrome include diabetes mellitus and Hashimoto’s thyroiditis. Females who have this syndrome frequently have high blood pressure, cardiovascular disease and heart defects. Other problems that have been associated with Turner Syndrome include arthritis, scoliosis, cataracts, and obesity.
There is no cure for Turner syndrome so physicians have to combat the symptoms that are associated with this abnormality in order to give the child or young female adult the best life that she possibly can have. Some of the things that have been used to improve their plight is to give these children human growth hormone in order to allow them to grow to a normal height. They can also give children estrogen replacement therapy when they enter puberty so that they can develop breast tissue, pubic hair and other sexual attributes. These girls are infertile so they cannot get pregnant unless they are assisted with donor eggs or other extreme measures.
These children can have a normal lifespan if they are monitored closely by physicians who can make sure that they are not developing any of the complications that can occur with this syndrome. They will have to take replacement hormones for the biggest portion of their life however they can live a good life if they are treated properly.
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