Spiegel A M, Levine M A, Aurbach G D, Downs R W, Marx S J, Lasker R D, Moses A M, Breslau N A
Am J Physiol. 1982 Jul;243(1):E37-42. doi: 10.1152/ajpendo.1982.243.1.E37.
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.
假性甲状旁腺功能减退症是一种遗传性疾病，与对多种激素（包括甲状旁腺激素、促甲状腺激素、促卵泡激素和黄体生成素）作用的抵抗有关。在此名称下描述的疾病在潜在的基因缺陷、表型表现以及激素作用缺陷的严重程度方面具有异质性。大多数受影响的个体同时具有特征性骨骼改变（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，而该蛋白对于将某些细胞表面激素受体与腺苷酸环化酶系统偶联至关重要。这种缺陷可能是对多种激素作用产生抵抗的原因。其余患者中激素抵抗的原因尚未明确。
