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Sunday, May 25, 2008

Turner

When someone says Turner Syndrome, what do you think about?
Aortic Coarctation (preductal type):
hypotension and lower extremity cyanosis which causes rib notching = erosion of lower border of the ribs from enlargement of the intercostals which provide collateral blood flow
Primary Amenorrhea 
Ovary streaks = lack of sex hormones 
Most common sex chromosome abnormality in females
Complete or partial monosomy of the X chromosome (45XO)
50%+ = complete loss of the X chromosome = no Barr body the remaining = mosaicism (46XY) which makes the at risk for gonadoblastoma

Patient described as Short, wide spaced nipples, delayed puberty, weak pulses of lower extremities, can have hypothyroidism and diabetes. Xray - rib notching.

That is what I think of when I here Turner Syndrome. 
Turner = trapped in Tanner stage 1


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