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A group of diseases caused by resistance to PTH (parathormone)
leading to hypocalemia & hyperphosphatemia accompanied by increased
PTH levels in serum (negative feedback).
Patients with type Ia have a genetic deficiency of the Gs protein that
couple PTH receptors to adenyl cyclase. These patients have in addition
to the manifestations of hypocalcemia and hyperphosphatemia a peculiar
constellation of somatic characteristics including subcutaneous ossifications,
brachydactyly (short metacarpals), obesity, round facies,
and short stature.
In some subjects, hypocalcemia and hyperphosphatemia are associated
with radiographically evident osteitis fibrosa cystica (usually
a finding of hyperparathyroidism). This finding suggests selective renal,
as opposed to skeletal, resistance to PTH action. The pathogenesis is
Hypocalcemia and hyperphosphatemia accompanied by increased PTH levels
and normal renal function.
PTH infusion (at present with commercially available synthetic 1-34
peptide) and measurement of urinary cAMP excretion.
Physical appearance can help distinguish type Ia from type Ib pseudohypoparathyroidism
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