A patient of short stature with idiopathic hypoparathyroidism round face and metacarpal signs.
A 16-year old girl of short stature, with round face, mental retardation, and Albright's dimple sign was admitted for evaluation of hypocalcemia. Her serum calcium levels were 6.3-8.0 mg/dl, and phosphorus 6.9-7.8 mg/dl. Although a diagnosis of pseudohypoparathyroidism was initially suggested, her serum iPTH concentration was low (0.1 ng/ml). Furthermore, an injection of synthetic human parathyroid hormone (100 U, hPTH (1-34] was followed by a marked increase in urinary excretion of cyclic AMP and phosphorus. This case suggests that a shortened metacarpal is not a reliable guide in distinguishing between idiopathic hypoparathyroidism and pseudohypoparathyroidism and that a standard Ellsworth-Howard test is a prerequisite to differential diagnosis.
D000293:Adolescent; D001827:Body Height; D002118:Calcium / Q000097:blood; D000242:Cyclic AMP / Q000652:urine; D003937:Diagnosis, Differential; D005145:Face; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis* / Q000378:metabolism; D008663:Metacarpus / Q000000981:diagnostic imaging; D010281:Parathyroid Hormone; D010758:Phosphorus / Q000652:urine; D011547:Pseudohypoparathyroidism / Q000175:diagnosis; D011859:Radiography
D010281:Parathyroid Hormone; D010758:Phosphorus; D000242:Cyclic AMP; D002118:Calcium