Karnataka

Raising awareness on Turner Syndrome that affects females

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A conference on the rare chromosomal disorder will be held in Bengaluru today

When 12-year-old Kruthika (name changed) was not growing in accordance with her age, her parents did not think it was important to seek medical advice. As she grew up, her short stature and inability to attain pubertal development became a major concern for them. When they finally took her to a doctor, little did they know that their daughter was suffering from Turner Syndrome, a rare chromosomal disorder.

Turner Syndrome is a condition that affects only females when one of the X chromosomes (sex chromosomes) is missing or partially missing. Described by Dr. Henry Turner in 1938, it can cause a variety of medical and developmental problems, including shorter height, failure of the ovaries to develop, and heart defects.

To discuss the challenges across lifespan of Turner Syndrome, Magic Foundation-India, an organisation working to create awareness about growth disorders in children, has organised a conference for patients, caregivers and doctors in the city on January 12.

Turner Syndrome can be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms, the diagnosis is delayed until teen or young adult years.

Girls and women with Turner Syndrome need ongoing medical care from a variety of specialists. Regular check up and appropriate care can help most girls and women lead healthy and independent lives.

“My diagnosis was 30 years ago and although doctors said I could be treated abroad, we could not afford it. I lived with the condition and subsequently, went into depression. However, I was able to come out of it and I am now leading a successful life,” said Kruthika.

Although there is no data available on the incidence of the condition in Indian population, experts said Turner Syndrome occurs in 1 in 2,500 live female births. “Short stature is almost a consistent finding in Turner Syndrome, the cause of which is multifactorial, including intrauterine growth retardation, gradual decline in height velocity in childhood, absence of pubertal growth spurt, and to end organ resistance resulting from skeletal dysplasia,” said Shaila S. Bhattacharyya, paediatric and adolescent endocrinologist at Manipal Hospitals.

Varying symptoms

Signs and symptoms may vary among girls and women. For some, the presence of the syndrome may not be readily apparent, but in others, a number of physical features and poor growth show early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects, the doctor said.

For details on the conference, contact info@magicfoundation-india.org

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Printable version | Jan 21, 2020 1:38:30 PM | https://www.thehindu.com/news/national/karnataka/raising-awareness-on-turner-syndrome-that-affects-females/article30545605.ece

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