Pseudohypoparathyroidism with normal serum calcium level.
Pseudohypoparathyroidism with normal serum calcium level.
复制标题
血清钙水平正常的假性甲状旁腺功能减退症。
DOI：
10.1001/archpedi.1975.02120460072017
复制
发表时间：
1975
影响因子：
--
通讯作者：
P. Collipp
中科院分区：
文献类型：
--
作者：
V. Balachandar;J. Pahuja;V. Maddaiah;P. Collipp
一名轻度肥胖的15岁男孩身材矮小，相貌圆润，手和脚趾短而粗。他患有完全表现为假性甲状旁腺功能减退症的综合征，但他是其家族中唯一具有这种疾病的所有躯体特征的成员。血清甲状旁腺激素水平显著升高。静脉注射甲状旁腺激素后，尿中环磷酸腺苷和磷酸的排泄量没有增加。然而，他并没有低钙血症。目前的实体可能是假性甲状旁腺功能减退症的一种暂时性形式，骨骼腺苷环化酶对甲状旁腺激素有部分反应。
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.