Two Cases of Pseudohypoparathyroidism in Sibling / 대한소아내분비학회지

ABSTRACT

Pseudohypoparathyroidism(PHP) is an inherited metabolic disorder characterized by hypocalcemia, hyperphosphatemia and an impaired phosphaturic response to exogenous parathormone(PTH), which are caused by end organ resistance to the action of PTH. Most of these patients have, in addition, the skeletal abnormalities of Albright hereditary osteodystrophy. We report two cases of PHP, suspicious type Ia, in sibling who were presented with multiple subcutaneous soft tissue calcification similar to that seen in tumoral calcinosis and had short stature, round face, brachydactyly and metabolic abnormalities(hypocalcemia, hyperphosphatemia, increased serum PTH, and decreased 24hr urinary basal cAMP)