Reynaud R, Saveanu A, Barlier A, Enjalbert A, Brue T
Department of Pediatrics, Centre Hospitalier Universitaire Timone, Marseille, France.
Growth Horm IGF Res. 2004 Dec;14(6):442-8. doi: 10.1016/j.ghir.2004.07.001.
Mechanisms that control pituitary development are gradually better understood. They involve molecular signals from surrounding structures and the expression of a cascade of homeodomain transcription factors. Mutations of these transcription factors cause defects of embryologic development of the anterior pituitary responsible for isolated or multiple pituitary hormone deficiencies (respectively, IPHD and MPHD) in both rodents and humans. In this review we emphasize the description of human phenotypes associated with genetic alterations found in IPHD (e.g. isolated corticotroph deficiency and Tpit mutations) and MPHD (mutations of POU1F1, PROP1, Hesx1, Lhx3, Lhx4, Ptx2).
控制垂体发育的机制正逐渐被人们更好地理解。这些机制涉及来自周围结构的分子信号以及一系列同源结构域转录因子的表达。这些转录因子的突变会导致啮齿动物和人类垂体前叶胚胎发育缺陷，分别引发孤立性或多发性垂体激素缺乏症（分别为IPHD和MPHD）。在本综述中，我们着重描述与IPHD（如孤立性促肾上腺皮质激素缺乏症和Tpit突变）和MPHD（POU1F1、PROP1、Hesx1、Lhx3、Lhx4、Ptx2突变）中发现的基因改变相关的人类表型。
