What is Turner Syndrome?
Turner syndrome is a genetic disorder. The normal human cells contain a genetic setup of 22 pairs of chromosomes and 1 pair of sex chromosome (called X and Y). A male has a genetic setup of 46XY chromosome whereas a female has a genetic setup of 46XX chromosomes. In Turner’s syndrome, one of the X chromosomes is missing or misshapen. Because one X chromosome is absent, the ovaries (female reproductive organs) do not develop normally and there inadequate production of female hormones.

What are the clinical features of Turner’s syndrome?
Since ovaries do not develop in girls with Turner’s syndrome, these girls do not go through puberty (do not develop breasts or do not have periods). However their uterus and vagina are normal. Girls with turner syndrome may be shorter than their peers. Some girls may have excess skin folds around the neck (webbed neck), puffy hands and feet at birth (lymphedema). Kidney, heart, thyroid and skeletal problems may be seen. Other features may be low hairline, broad chest with widely spaced nipples.

Not all women with Turner’s syndrome have all features. Some may have only undeveloped ovaries and short stature. They may have a poor sense of direction or poor performance in maths, geometry. MENTAL RETARDATION IS NOT A FEATURE OF TURNER’S SYNDROME.

How is Turner’s syndrome diagnosed?
Children with characteristic features may be diagnosed during childhood. Girls who are short or lack development of breasts or menses would be referred to a doctor. Doctor would do a blood test called as karyotype to diagnose Turner’s syndrome. Karyotype is a test that counts the chromosomes in a cell. If only one X chromosome is present or if one X chromosome is misshapen, a diagnosis of Turner’s syndrome is made.

What is the treatment of Turner’s syndrome?
Patients with Turner’s syndrome should be screened for kidney, heart, hearing and thyroid problems. As the girl approaches 10 years of age, hormones such as estrogen may be required to increase her growth. In addition, growth hormone may also be given to increase the height. Once the child approaches 13 to 14 years of age, female hormones (estrogen & progesterone) will be prescribed to lead to sexual development, (development of breasts and onset of menses). Most women with Turner’s syndrome need to take female hormone pills throughout life.

Which parent is responsible for Turner’s syndrome?
Turner’s syndrome is a biological mutation that occurs for which neither of the parents are responsible.

Can women with Turner’s syndrome have children?
Normally, girls with Turner’s syndrome have underdeveloped ovaries and thus cannot produce eggs. However with new developments such as in vitro fertilization and embryo transplants, these women can have the opportunity to a carry a child through pregnancy and give birth.