Balachandar V, Pahuja J, Maddaiah V T, Collipp P J
Am J Dis Child. 1975 Sep;129(9):1092-5. doi: 10.1001/archpedi.1975.02120460072017.
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.
一名轻度肥胖的15岁男孩身材矮小，面容圆润，手和脚趾短粗。他患有完全表现型的假性甲状旁腺功能减退症，但却是其家族中唯一具有该疾病所有躯体特征的成员。血清甲状旁腺激素水平大幅升高。静脉注射甲状旁腺激素后，尿中环磷酸腺苷和磷酸盐的排泄未能增加。然而，他并没有低钙血症。目前这种情况可能是假性甲状旁腺功能减退症的一种短暂形式，骨骼腺苷酸环化酶对甲状旁腺激素有部分反应。
