Turner syndrome is a genetic disorder affecting women. Female cells, which normally should contain two X chromosomes happen to have only one X chromosome, thereby conducing to this disorder.
Turner syndrome is a condition affecting development in females. It is seen to affect about 1 in every 2,500 girls. Women normally have two X chromosomes in each cell, however, women with this disorder are born with one X chromosome only or have one part of the same missing. Also called Ullrich-Turner syndrome, this condition was named as Turner syndrome by Dr Henry, who discovered the condition in 1938.
There are two types of Turner syndrome, one which features lack of complete X chromosome and is referred to classical Turner syndrome, while the other called Mosaic Turner syndrome, features abnormalities in X chromosomes of only some cells in the body. Of the two types, Mosaic Turner syndrome symptoms are milder than the former. Depending on the extent of abnormalities, the symptoms will vary.
Symptoms of Turner Syndrome
The gene responsible for long bone growth is situated on the X chromosome. Hence, damage caused to this chromosome or missing part of the same, can result in short stature. Women with this syndrome typically attain a height of 4 feet 7 inches.
Women with Turner syndrome also feature a shorter neck, with extra skin enveloping it. The extra skin forms folds on the neck, thereby giving the neck a webbed appearance.
Lack of development of the ovaries, leading to infertility
The abnormalities on the X chromosome conduces to problems with ovary development. The gene called SHOX or short stature homeobox is associated with occurrence of Turner syndrome. Menstruation starts in the late teens, which gradually comes to a halt, thereby making most women with this syndrome infertile. Breast development is also slow or limited. However, infertility is not the case with everyone. There are rare reports of women with Turner syndrome becoming pregnant.
- Skeletal abnormalities
- Puffiness in the hands and feet
- Low hairline
- Saggy eyelids
- Low ears
- Spots on skin (colored)
- Short fingers and toes
- Hearing problems
- Lower jaw smaller than normal
- Irregular rotation of wrist and elbow joints
- Soft nails turning upward at the ends during old age
Some of the women also encounter heart defects and kidney problems. They are also prone to medical conditions like high blood pressure, blood vessel problems, osteoporosis, thyroid disorder and type II diabetes. Their difference from other women during puberty causes them to become self-conscious and have low self esteem. They become anxious and depressed.
Women with this syndrome have intelligence levels like other women without this syndrome. Thus, women with Turners syndrome do not have impaired cognition and are not mentally retarded. However, they do face certain problems due to developmental delays. They face some learning problems, especially learning mathematics. However, they can read, write and memorize well. They even develop good language skills and find jobs that can earn them a living.
Since, Turner syndrome is a genetic disorder, there is no cure for it. However, Turner syndrome symptoms can be subdued to some extent, if diagnosed early in childhood. Girls can be given human growth hormones to assist bone growth, thus, increasing their stature slightly. Moreover, estrogen therapies are there for women with an absence of puberty. Estrogen hormone also helps prevent osteoporosis. Women with dysfunctional ovaries are unable to conceive. However, with the help of in vitro fertilization and egg donations, women with Turner syndrome can have children of their own.