Seinen H, Koppeschaar H P, Lips C J
Afd., Algemene Interne Geneeskunde, Academisch Ziekenhuis, Utrecht.
Ned Tijdschr Geneeskd. 1990 Jul 21;134(29):1412-7.
Pseudohypoparathyroidism is a condition in which for some reason the normal effect of PTH in the target organ fails to occur. In the Ia type here described the signal transmission is impaired due to abnormal genetic development of the stimulating G protein (Gs) in the cell membrane resulting in insufficient cAMP production after binding of PTH on the membrane receptor. The failure to occur of the normal PTH effect impairs the calcium homeostasis. In many cases this type of pseudohypoparathyroidism is associated with phenotypical characteristics such as short stature, round face, obesity, brachydactyly, subcutaneous and intracerebral calcifications and sometimes bradyphrenia. Since the Gs protein aspecifically also brings about production of cAMP after binding of other polypeptide hormones to this hormone-specific receptor, several hormone resistances may be present concurrently.
假性甲状旁腺功能减退是一种由于某些原因甲状旁腺激素（PTH）在靶器官中的正常作用未能发生的病症。在本文所述的Ia型中，由于细胞膜中刺激性G蛋白（Gs）的异常基因发育，信号传导受损，导致PTH与膜受体结合后cAMP生成不足。正常PTH作用未能发生会损害钙稳态。在许多情况下，这种类型的假性甲状旁腺功能减退与一些表型特征相关，如身材矮小、圆脸、肥胖、短指畸形、皮下和脑内钙化，有时还伴有智力迟钝。由于Gs蛋白在其他多肽激素与该激素特异性受体结合后也非特异性地导致cAMP生成，可能会同时存在几种激素抵抗。
