DNA India
29 March 2011
By Nozia Sayyed
Pune, India

City–based geneticist and paediatrician, Dr Prakash Gambhir, wants to create awareness on Turner syndrome (TS), a disorder that affects one in 2,000 female live births. Not much is known about this condition in which women suffer infertility and absence of menstruation. In a talk with Nozia Sayyed, Dr Gambhir said that the genetics department of the Maharashtra University of Health Sciences (MUHS) is planning to undertake a research study to track the incidence of Turner syndrome in the city.

What is Turner syndrome?
Turner syndrome is a disorder caused either by the absence or abnormality of one of the two X chromosomes in females. This condition occurs quite commonly during conception, but a majority of such conceptions are lost in early pregnancy as they are not viable and lead to early abortions. The incidence of TS is one in 2,000 female live births. These girls also look different from normal girls.

They look different in what way?
Girls born with this disorder have certain characteristic features. The symptoms include short stature, failure to get menstrual cycle at the appropriate age due to lack of normally functioning ovaries. These ovaries do not ovulate or produce hormones that are essential for normal breast development and other physical characteristics. These girls can also be identified by the shape of their neck as they have a peculiar structure known as webbed neck. Some of them may also have heart or kidney abnormalities.

What are the causes of TS and how can it be diagnosed?
There are no known causes and TS is congenital. It affects the foetus at the time of conception. TS can be diagnosed at any stage of life. Through chromosome analysis, it can be detected even before the child is born. This analysis is done during prenatal testing in which the doctor performs a physical test to look for signs of underdevelopment. The condition is diagnosed by studying the chromosomes, but it is usually detected late due to lack of awareness. Normal females have two X chromosomes, whereas a majority of TS patients lack one of the X chromosomes.

What is the main symptom of TS?
If the paediatrician or nurse is educated about this syndrome, this condition can be suspected in female newborns. The main symptom after birth is swelling of the hands and feet. Other symptoms include webbed neck, broad flat chest, dry eyes, infertility, absence of menstruation and so on.

What is the treatment available?
This disorder is not curable, but presently the mainstay of management consists in giving hormones that are not produced in the adequate amounts in the patient. The growth hormone therapy is one such treatment given to patients. Given from a young age, it may help achieve close to normal height as these females are usually short.

Another therapy includes estrogen therapy, which is started at the age of 12 to 15 years. However, due to non–affordability, many do not have access to this treatment. This therapy helps patients in breast development. With hormone therapy too, women with this syndrome will remain infertile due to lack of ovaries.

Can these women conceive?
No, they cannot but there are chances of achieving pregnancy if they get donor eggs. However, older women usually face infertility caused due to this syndrome and fail to conceive.

Have you planned any research study under the genetics department?
Yes. We are planning to undertake a chromosome DNA study in this field, which will help us understand this disorder better. It will also help in knowing the incidence rate of TS patients in Pune.