Genetic Project
Süžeeskeem Tekst
- I'm sorry to tell you but your daughter has tuners syndrome
- I can tell by the fetuses short neck with that's webbed, low hairline on back on neck, a low set of ears and the hands and feet will be swollen on birth. On the ultrasound you see this.
- Tuners is caused by an absent x chromosome. The fetus still has one x chromosome but she is x0
- All of her proteins are normal however her hormones (human growth hormone, estrogen and progesterone) are significantly lower then a non tuner syndrome child
- on the screen is the hormone estrogen she's lacking
- I guess
- Lets move this conversation to my office
- These low hormone levels in uteri cause short stature, an early loss of ovarian function, osteoporosis
- webbed neck, heart and kidney abnormalities , higher odds high blood pressure and diabetes, under active thyroid, higher odds bowel issue and learning disabilitys
- 17years later
- Hello my name is Aisha and I have tuners syndrome
- I have taken human growth hormone in order to make my height a respectable 5ft 1 in instead of 4ft 10in
- I take estrogen so I can go through puberty and I take progesterone to keep my menstrual cycle regular
- Having had tuners I was wondering what research is being done on my disease I found 3 studies
- The Adult Turner Clinic in South East, Scotland is working to understand the rate of heart abnormalities in Tuner syndrome patients
- This research better helps doctors determine which patients are at risk for heart defects and who and how to screen for them
- Another paper, from the journal of womens health, shows the necessity of estrogen therapy in preventing osteoporosis by 70%, this is meant to understand the necessity of estrogen in the body
- The last paper, from the University of Washington, worked to understand the psychology of women with tuners syndrome psychology and found they are more prone to poor concentration, immaturity and anxiety
- I hope you learned about my condition and goodbye
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