垂体相关转录因子与联合垂体激素缺乏症

Pituitary related transcription factors and combined pituitary hormone deficiency

垂体是人体重要的内分泌器官,其胚胎时期的发育异常将导致联合垂体激素缺乏症(CPHD)以及垂体或神经系统结构异常。已发现的致CPHD的转录因子包括PROP1、HESX1、POU1F1、LHX3、LHX4等,它们作用于胚胎发育的不同阶段和途径,表现出的激素缺乏组合也不同。文章介绍了垂体胚胎发育过程、上述转录因子在垂体中的表达及其突变。

The pituitary gland is one of the basic endocrine organs of the body. The defect of certain transcription factors leads to abnormalities of embryonic organogenesis and differentiation failure of hormone-secreting cells, thus representing combined pituitary hormone deficiency （CPHD）. The known transcription factors inducing CPHD include PROP1, HESX1, POU1F1, LHX3, LHX4 and others. Their impact on embryonic development through distinct ways results in various phenotypes. This review explains the pituitary embryonic development and the expression of the transcription factors mentioned above and their mutations responsible for CPHD.