Pseudohypoparathyroidism with normal serum calcium level.
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.
D000293:Adolescent; D002118:Calcium / Q000097:blood*; D000242:Cyclic AMP / Q000652:urine; D005385:Fingers / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010281:Parathyroid Hormone / Q000097:blood; D010710:Phosphates / Q000652:urine; D011547:Pseudohypoparathyroidism / Q000175:diagnosis*; D011859:Radiography; D014034:Toes / Q000000981:diagnostic imaging
D010281:Parathyroid Hormone; D010710:Phosphates; D000242:Cyclic AMP; D002118:Calcium