Medical Information:In normal cases, a female has two X chromosomes, one from the mother and the other from the father. When females have Turner syndrome, they are missing one X chromosome.
Turner syndrome is caused by nondisjunction. Nondisjunction is when a pair of sex chromosomes doesn’t separate during the formation of an egg. If an abnormal egg joins with a normal sperm, forming an embryo, it may not have one of the sex chromosomes. When the embryo grows and all of the cells divide, the baby won't have one of the X chromosomes in every cell.
Turner syndrome is not inherited from a parent with this disorder because women with Turner syndrome can't have kids.
Turner syndrome affects the sexual and growth development. The girls can grow to be an average of 4 feet 8 inches, and may not start puberty at the normal times. The ovaries, which make eggs, the sex hormones, estrogen, and progesterone, won't develop properly. The women look like they have a hefty appearance. Their arms slightly turn out at the elbow; they have a short webbed neck, a lower jaw, and low hairline at the back of the neck. The medical symptoms include: lymph edema (swelling of hands and feet), heart defects, kidney defects, high blood pressure, and infertility.
Turner Syndrome affects 1 out of about 2,500 babies, or 60,000 females in the United States. There are about 800 new cases diagnosed each year.
Turner syndrome can be diagnosed within a few months of the baby’s life by the physical symptoms. Other patients can be diagnosed in their teenage years because they don't grow normally or experience puberty at all.
If Turner syndrome is suspected, a blood sample making a karyotype can be used to diagnose. Turner syndrome can also be diagnosed during the pregnancy with amniocentesis, or a chorionic villus sampling (CVS). In an ultrasound Turners syndrome can be identified by its physical symptoms before the baby is born.
The best way to treat Turner syndrome is hormone replacement therapy. Teenagers can be treated with growth hormone to help grow to a normal height. If treatment is started early enough in childhood, final height growth rates are very high. Another treatment for Turner syndrome is estrogen replacement. This helps girls develop the physical changes of puberty. This treatment usually starts when a girl is about thirteen.
Women with Turner syndrome are sterile, but vitro fertilization can make pregnancy possible. A donor egg is used to create an embryo, which is put into the womb. With proper supportive care, the woman can carry and deliver a baby through the normal birth process.
Everyone with Turner syndrome is different, some can have a lot of physical differences and some can have only a few medical problems. Using early, appropriate medical care with ongoing support, most people with Turners syndrome can lead normal and productive lives and die at the average death rate.