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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. 

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.

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.

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