When the normal pair of two X chromosomes are lacking in a female child, she is said to have Turner syndrome. It is a genetic disorder found only in females which is also known as Gonadal dysgenesis and Monosomy X.
Features :
Children with Turner syndrome will be shorter than normal height and they become infertile due to the absence of regular ovary function. They will not have puberty and their physical growth will be retarded at this stage. Girls with Turner syndrome cannot produce sex hormones called progesterone and hence cannot bear children. Only with the help of external treatment, these girls can attain puberty and have normal breast development.
Their skin would resemble that of webbed neck of the frog. There will be swelling of tissues in their hands and legs (lymphEdema) along with elongated bone growth (skeletal abnormalities). Very often those children will have congenital heart problems like valve leakage and heart mumur and kidney problems. They would also get middle ear infection and partial hearing loss in early ages.
However, they will have normal intelligence level and good verbal and communication skills. They are likely to develop diabetes and Hypertension at later ages.
It is said that one out of every 2,500 child (female) will have such birth defects.
The missing gene or X chromosome is responsible for causing these defects in female children.
Causes :
Since the disorder is genetic, caused by inheritance of defective chromosome, nothing can be done for preventing it. Such females will be short of two X chromosomes. Normally girl children will have XX chromosome and males will get XY chromosome. But in girls with Turner syndrome either they will lack two X chromosome or they will be partially present.
Tests :
Mere physical examination is not enough for detecting Turner syndrome. Doctors will ask such children to undergo blood count test, echo test, MRI scan of chest and ultrasound for identifying potential development of reproductive organs.
Pictures of Turner Syndrome :
Images, Pics, Pictures and Photos of Turner Syndrome
Treatment :
Such female children will take growth hormone injection for getting normal periods and puberty. Estrogen replacement therapy is administered during 12 years for development of breast and secondary sexual characters. Estrogen injection also prevents them against Osteoporosis.
In case of heart defects, cardiologist is to be consulted for corrective surgery. Similarly, ear infections and hearing loss can be repaired with the help of ENT specialist.
These women can become pregnant, if somebody donates embryos for them. Otherwise, they can lead normal healthy life supported with group therapy for getting improved self esteem.
