Pseudohypoparathyroidism with normal serum calcium level
V. Balachandar, J. Pahuja, V. T. Maddaiah and P. J. Collipp
A mildly obese 15-year-old boy had short stature with rounded facies and
short, stubby hands and toes. He had the fully expressed syndrome of
pseudohypoparathyroidism but was the only member of his family who had all
the somatic characteristics of this disease. The serum parathyroid hormone
level was substantially elevated. Urinary excretion of cyclic adenosine
monophosphate and phosphate failed to increase following intravenous
infusion of parathyroid hormone. However, he did not have hypocalcemia. The
present entity is probably a transient form of pseudohypoparathyroidism
with partial responsiveness of skeletal adenyl cyclase to parathyroid
hormone.
