TURNER SYNDROME INDIA
Working towards increasing Turner Syndrome awareness in India
"Don't limit your challenges, challenge your limits"
WHAT IS TURNER SYNDROME?
Phenotype
Turner syndrome is a rare genetic condition that affects about 1 in 2,500 females and can result in various different complications. Cardiac abnormalities, infertility, short stature, hypertension, learning disabilities, skeletal problems, and autoimmune disorders are all common in women with Turner syndrome.
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Image from University of Chicago Pediatrics Clerkship.
GENETIC BASIS OF TURNER SYNDROME
Karyotype
While most women have two X chromosomes, women with Turner Syndrome are missing an X and thus have only 45 chromosomes total. The implications of this missing X chromosome are largely unknown. Patients can be mosaic, meaning they have some cells that are missing the X chromosome while others are not. Furthermore, there are other structures the chromosomes can also take that result in Turner syndrome. Lastly, there also could be Y material present in a woman's cells. These various different karyotypes may result in different measures taken by physicians.
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Image from Medical News.
FIRST STEPS
Tackling Turner Syndrome
Patients who suspect they may have Turner syndrome should get a blood test to see a karotype analysis and confirm the missing X chromosome. It is important for Turner syndrome patients to see an endocrinologist, cardiologist, geneticist, ENT/audiologist, gynecologist, and pediatrician depending on age. They also may want to see a psychologist and a reproductive endocrinologist. Physicians may recommend estrogen and/or growth hormone depending on the patient.
