先天性垂体功能减退症研究进展

Progress in congenital hypopituitarism

先天性垂体功能减退症是一种比较罕见的内分泌疾病,多由于垂体本身基因突变、围生期损伤或者缺氧所致。文章主要从垂体功能减退症病因学方面进行综述,着重从与垂体发育有关基因突变方面进行阐述,同时也包括最近临床分型、MRI诊断方面以及预后方面的进展。最后指出要重视改善患者生存质量和减少社会负担。

Congenital hypopituitarism is a rare endocrinologic disease, mainly due to the genetic mutation in developing pituitary gland, damage and hypoxia in perinatal period. Early diagnosis and treatment of the disease is benefitial to both for patients and the society. The etiology, especial genetic mutations related to the congenital hypopituitarism, progress in clinic diagnosis and prognosis were reviewed.