Monday, April 15, 2013


This girl is on recombinant human growth hormone therapy for her height. When she was born, she had lymphedema of her hands and feet. As a child, she had recurrent urinary tract infections. She has not yet started menstruating. In her 20s, she will be diagnosed with hypothyroidism from autoimmune thyroiditis. Screening labs in her 30s will show elevated liver enzymes. She will never have children. In her 40s, she will develop hypertension and osteoporosis.

Challenge: What's the diagnosis?

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sibogox said...

Turner's syndrome, XO karyotype

webhillizzy said...

turner syndrome (monosomy X)

Anonymous said...

Turner Syndrome

Kat said...

Turner's Syndrome

Craig Chen said...

yep! good job everyone :)

The short, stocky figure with a webbed neck and shield chest are consistent with Turner syndrome.

Sources: UpToDate; Wikipedia.