Abstract: Decreased parathyroid hormone （PTH） secretion or hormone resistance can both lead to symptoms of PTH function defect. The former is called hypoparathyroidism （HP） and the latter is called pseudohypoparathyroidism （PHP），both being characterized by hypocalcaemia and commonly accompanied with hyperphosphatemia. HP is classified as acquired and genetic，and adult HP is practically acquired. Childhood HP is rare，and more commonly caused by various genetic variations. PHP is a rare genetic disease mostly caused by molecular alterations of the GNAS gene，has various types with different clinical manifestations. The diagnosis is based on clinical manifestations and genetic testing. Calcium supplementation and activated vitamin D are required for hypocalcemia in the treatment of HP and PHP，and nephrocalcinosis needs to be monitored during treatment. PHP also needs to manage other hormone resistance and symptoms of AHO，and corresponding follow-up and treatment should be conducted.

Key words: child, hypoparathyroidism, pseudohypoparathyro-idism, genetics, diagnosis, treatment

摘要： 甲状旁腺素分泌减少或激素抵抗都会导致功能不足的症状，分别称之为甲状旁腺功能减退（HP）和假性甲状旁腺功能减退（PHP），两者均表现为低钙血症，多伴有高磷血症。HP分为获得性和遗传性两大类，成人基本为获得性，而儿童发病率低，多由遗传变异导致。PHP则一般和GNAS基因变异相关，属于遗传罕见病，类型多，临床表现变异大，诊断需要结合临床表现和遗传检测。HP和PHP的主要治疗都是针对低钙血症补充钙剂和活性维生素D，治疗期间要监测肾钙质沉着。同时PHP还需要关注其他激素抵抗和Albright’s骨营养不良（Albright’s hereditary osteodystrophy，AHO）的症状，予以相应的随访和治疗。

关键词: 儿童, 甲状旁腺功能减退, 假性甲状旁腺功能减退, 遗传, 诊断, 治疗