Gertner J M, Tomlinson S, Gonzalez-Macias J
Arch Dis Child. 1978 Apr;53(4):312-5. doi: 10.1136/adc.53.4.312.
We describe a boy who presented at 4 years of age with radiological hyperparathyroidism, osteosclerosis, and necrosis of the femoral heads. Plasma biochemistry was normal but the parathyroid hormone (PTH) level was very high. He was deaf and had an unusual facies but did not have the phenotype of Albright's hereditary osteodystrophy. Plasma and urine cyclic AMP reponses to bovine PTH were markedly subnormal. Vitamin D produced sustained hypercalcaemia and a fall in plasma phosphorus. After four hyperplastic parathyroid glands were removed he became hypocalcaemic and plasma phosphorus rose. After operation he remained unresponsive to exogenous PTH; We suggest that he had a form of pseudohypoparathyroidism without the phenotype of Albright's hereditary osteodystrophy and with some residual skeletal and renal responsiveness to PTH.
我们描述了一名4岁男孩，其表现为放射性甲状旁腺功能亢进、骨硬化和股骨头坏死。血浆生化指标正常，但甲状旁腺激素（PTH）水平非常高。他失聪且面容异常，但不具有奥尔布赖特遗传性骨营养不良的表型。血浆和尿液中环磷酸腺苷对牛PTH的反应明显低于正常水平。维生素D导致持续性高钙血症和血浆磷下降。切除四个增生的甲状旁腺后，他出现了低钙血症，血浆磷升高。术后他对外源性PTH仍无反应；我们认为他患有一种假性甲状旁腺功能减退症，不具有奥尔布赖特遗传性骨营养不良的表型，且对PTH仍有一些残余的骨骼和肾脏反应。
