Pseudohypoparathyroidism (a report of 6 patients in a family) / 中华放射学杂志

ABSTRACT

Objective To improve the recognition and diagnosis of pseudohypoparathyroidism (PHP). Methods Six subjects with PHP of 4 generations in one family were investigated and studied. There were 4 males (including 2 deaths) and 2 females. The age of 4 surviving patients was from 8 to 55 years. All cases were proved by clinical biochemistry tests. Plain film of hands and head CT scans were performed in 2 selected patients. Results The somatotype of Albright hereditary osteodystrophy (AHO) and short fingers and toes were found in all cases. Radiologic features were as follows(1)short metacarpals and phalanges.(2)skull thickening and symmetrical calcification of basal ganglia. Conclusion The diagnosis of PHP can be established by close combination of radiologic findings and clinical manifestations.