假性甲状旁腺机能减退症(附一家系六例报告)

目的 提高对假性甲状旁腺机能减退症（PHP）的认识和诊断。方法 发现PHP先证者后，对其家族进行了调查。该家族共4代6例患者，男4例（死亡2例），女2例。现存4例年龄最大者55岁，最小者8岁。6例均经生化证实，选择2例摄取手平片和头颅CT片。结果 6例均有典型的Albright遗传性骨营养不良症体型、短指（趾）畸形。2例行X线检查者表现为掌、指骨粗短，骨增厚、基底节区呈对称性钙化。结论 影像学表现与临床特点相结合，可对PHP做出明显诊断。

Pseudohypoparathyroidism (a report of 6 patients in a family)

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.