Deficiency of hormone receptor-adenylate cyclase coupling protein: basis for hormone resistance in pseudohypoparathyroidism.
Deficiency of hormone receptor-adenylate cyclase coupling protein: basis for hormone resistance in pseudohypoparathyroidism.
复制标题
激素受体-腺苷酸环化酶偶联蛋白的缺乏：假性甲状旁腺功能减退症激素抵抗的基础。
DOI：
10.1152/ajpendo.1982.243.1.e37
复制
发表时间：
1982
期刊：
影响因子：
--
通讯作者：
Breslau,NA
中科院分区：
文献类型：
--
作者：
Spiegel,AM;Levine,MA;Aurbach,GD;DownsJr,RW;Marx,SJ;Lasker,RD;Moses,AM;Breslau,NA
假性甲状旁腺功能减退症是一种遗传性疾病，与甲状旁腺激素、促甲状腺激素、促卵泡激素和促黄体激素等多种激素的抵抗有关。在此名称下描述的疾病在潜在的遗传缺陷、表型表现和激素作用缺陷的严重性方面是异质的。大多数受影响的个体也具有特征性骨骼变化（遗传性骨营养不良），其鸟嘌呤核苷酸调节蛋白（G蛋白）存在缺陷，该蛋白对于将某些细胞表面激素受体偶联至腺苷酸环化酶系统是必需的。这种缺陷可能是抵抗多种激素作用的原因。在其余患者中，激素抵抗的原因尚未确定。
Pseudohypoparathyroidism is an inherited disorder associated with resistance to the action of several hormones, including parathyroid hormone, thyroid-stimulating hormone, follicle-stimulating hormone, and luteinizing hormone. The disorders described under this designation are heterogeneous in regard to the underlying genetic defects, the phenotypic manifestation, and the severity of the defects in hormone action. The majority of affected individuals who also have the characteristic skeletal changes (heredity osteodystrophy) have a defect in the guanine nucleotide regulatory protein (G protein) that is essential for coupling certain cell-surface hormone receptors to the adenylate cyclase system. This defect is probably the cause for resistance to the action of multiple hormones. In the remaining patients the cause for hormone resistance has not been identified.