Pseudohypoparathyroidism

Question 1

what is it?

Answer 1

a genetic defect
the peripheral tissue is unresponsive to effects of the PTH because of alteration in the PTH receptor
similar biochemical picture to hypoparathyroidism but the PTH is elevated

Question 2

how does it present?

Answer 2

bone abnormalities (McCune Albright)
obesity 
subcutaneous calcification 
learning disability 
brachdactyly (4th metacarpal)