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Low bone density leads to Turner’s syndrome diagnosis
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A-42-year-old African American woman was referred because her bone density T-score was –5.1. She was unsure of the reason why the test was ordered but thought it might be because "my periods were not right."
A T-score as low as –5 in an adult can only be the result of two things.
The patient might have encountered a catastrophic medical event that resulted in rampant bone loss (for example: spinal cord injury, bariatric surgery, mega-dose prolonged steroids, long-standing unrecognized primary or secondary hyperparathyroidism), but even these situations infrequently are so devastating to the skeleton. The event would be so catastrophic that it would be unlikely to go unrecognized and be considered only because of the extremely low T-score.
Much more likely is that the patient had some lifelong condition that simply prevented accumulation of normal bone mass.
In my patient it did not take long to bring Turner's syndrome—complete or mosaic—into the differential diagnosis and I could convince myself that she did indeed have a webbed neck, wide carrying angle and limited breast development. She had many other consistent features by history—late and minimal puberty, shorter than both mother and father, irregular and infrequent menses ...
The karyotype confirmed the diagnosis of Turner's mosaic 46xx/45xo.